Специалистам

Ниже предлагаем вам ознакомиться с таблицей генов, варианты в которых ассоциированы с наследственными заболеваниями. Обращаем ваше внимание на то, что обладать патогенностью может не сам ген, а вариант в гене. Поэтому один и тот же ген может подвергаться анализу и в базовом, и в расширенном исследовании.

Ген

Описание заболевания в базе данных OMIM

Описание заболевания в библиотеке Gene Review

AAAS

Achalasia-addisonianism-alacrimia syndrome

AARS

Charcot-Marie-Tooth disease, axonal

Developmental and epileptic encephalopathy 29

Trichothiodystrophy 8, nonphotosensitive

AARS1

Charcot-Marie-Tooth disease, axonal

Developmental and epileptic encephalopathy 29

Trichothiodystrophy 8, nonphotosensitive

Charcot-Marie-Tooth Hereditary Neuropathy Overview

AARS2

Combined oxidative phosphorylation deficiency 8

Leukoencephalopathy, progressive

ABAT

GABA-transaminase deficiency

ABCA12

Ichthyosis, congenital

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

ABCA3

Surfactant metabolism dysfunction, pulmonary

ABCA4

Cone-rod dystrophy 3

Fundus flavimaculatus

Retinal dystrophy, early-onset severe

Retinitis pigmentosa 19

Stargardt disease 1

Nonsyndromic Retinitis Pigmentosa Overview

ABCB11

Cholestasis, benign recurrent intrahepatic

Cholestasis, progressive familial intrahepatic 2

ABCB4

Cholestasis, intrahepatic

Cholestasis, progressive familial intrahepatic 3

Gallbladder disease 1

ABCB7

Anemia, sideroblastic

ABCC6

Arterial calcification, generalized

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum, forme fruste

Pseudoxanthoma Elasticum

Generalized Arterial Calcification of Infancy

ABCC8

Diabetes mellitus, noninsulin-dependent

Diabetes mellitus, permanent neonatal 3

Diabetes mellitus, transient neonatal 2

Hyperinsulinemic hypoglycemia, familial

Hypoglycemia of infancy, leucine-sensitive

Familial Hyperinsulinism

Permanent Neonatal Diabetes Mellitus

Maturity-Onset Diabetes of the Young Overview

ABCC9

Cardiomyopathy, dilated

Hypertrichotic osteochondrodysplasia (Cantu syndrome)

Intellectual disability and myopathy syndrome

Brugada Syndrome

Cantú syndrome

ABCD1

Adrenoleukodystrophy

Adrenomyeloneuropathy, adult

X-Linked Adrenoleukodystrophy

ABCD4

Methylmalonic aciduria and homocystinuria, cblJ type

Disorders of Intracellular Cobalamin Metabolism

ABCG5

Sitosterolemia 2

Sitosterolemia

ABHD12

Polyneuropathy, hearing loss

Charcot-Marie-Tooth Hereditary Neuropathy Overview

ABHD5

Chanarin-Dorfman syndrome

ACACA

Acetyl-CoA carboxylase deficiency

ACAD8

Isobutyryl-CoA dehydrogenase deficiency

ACAD9

Mitochondrial complex I deficiency, nuclear type 20

ACADM

Acyl-CoA dehydrogenase, medium chain

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

ACADS

Acyl-CoA dehydrogenase, short-chain

Short-Chain Acyl-CoA Dehydrogenase Deficiency

ACADVL

VLCAD deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

ACAN

Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Spondyloepimetaphyseal dysplasia, aggrecan type

ACAT1

Alpha-methylacetoacetic aciduria

ACE

Renal tubular dysgenesis

ACO2

Infantile cerebellar-retinal degeneration

ACOX1

Mitchell syndrome

Peroxisomal acyl-CoA oxidase deficiency

ACP5

Spondyloenchondrodysplasia with immune dysregulation

ACSF3

Combined malonic and methylmalonic aciduria

ACSL4

Intellectual developmental disorder, X-linked 63

ACTA1

Myopathy, actin

Myopathy, actin

Myopathy, congenital

Nemaline myopathy 3, autosomal dominant or recessive

ACTA2

Aortic aneurysm, familial thoracic 6

Moyamoya disease 5

Multisystemic smooth muscle dysfunction syndrome

Heritable Thoracic Aortic Disease Overview

ACTB

Baraitser-Winter syndrome 1

Baraitser-Winter Cerebrofrontofacial Syndrome

ACTC1

Atrial septal defect 5

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Left ventricular noncompaction 4

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

ACTG1

Baraitser-Winter syndrome 2

Deafness, autosomal dominant 20/26

Hereditary Hearing Loss and Deafness Overview

Baraitser-Winter Cerebrofrontofacial Syndrome

ACTG2

Megacystis-microcolon-intestinal hypoperistalsis syndrome 5

Visceral myopathy 1

ACTG2 Visceral Myopathy

ACTL6B

Developmental and epileptic encephalopathy 76

Intellectual developmental disorder with severe speech and ambulation defects

ACTN1

Bleeding disorder, platelet-type

ACTN2

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Myopathy, congenital with structured cores and Z-line abnormalities

Myopathy, distal

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

ACTN4

Glomerulosclerosis, focal segmental

ACVR1

Fibrodysplasia ossificans progressiva

Fibrodysplasia Ossificans Progressiva

ACVR2B

Heterotaxy, visceral

ACVRL1

Telangiectasia, hereditary hemorrhagic

Hereditary Hemorrhagic Telangiectasia

Heritable Pulmonary Arterial Hypertension Overview

ACY1

Aminoacylase 1 deficiency

ADA

Adenosine deaminase deficiency, partial

Severe combined immunodeficiency due to ADA deficiency

Adenosine Deaminase Deficiency

ADAM17

ADAM22

Developmental and epileptic encephalopathy 61

ADAMTS13

Thrombotic thrombocytopenic purpura, hereditary

ADAMTS2

Ehlers-Danlos syndrome, dermatosparaxis type

ADAMTSL2

Geleophysic dysplasia 1

Geleophysic Dysplasia

ADAR

Aicardi-Goutieres syndrome 6

Dyschromatosis symmetrica hereditaria

Aicardi-Goutieres Syndrome

ADARB1

Neurodevelopmental disorder with hypotonia, microcephaly

ADAT3

Neurodevelopmental disorder with brain abnormalities, poor growth

ADCY5

Dyskinesia with orofacial involvement, autosomal dominant

Dyskinesia with orofacial involvement, autosomal recessive

Neurodevelopmental disorder with hyperkinetic movements and dyskinesia

ADCY5 Dyskinesia

ADGRG1

Polymicrogyria, bilateral frontoparietal

Polymicrogyria, bilateral perisylvian

ADGRG6

Lethal congenital contracture syndrome 9

ADGRV1

Usher syndrome, type 2C

Usher syndrome, type 2C

Usher Syndrome Type II

ADK

Hypermethioninemia due to adenosine kinase deficiency

ADNP

Helsmoortel-van der Aa syndrome

ADNP-Related Disorder

ADSL

Adenylosuccinase deficiency

AFF2

Intellectual developmental disorder, X-linked 109

AFG3L2

Optic atrophy 12

Spastic ataxia 5, autosomal recessive

Spinocerebellar ataxia 28

Spinocerebellar Ataxia Type 28

AGA

Aspartylglucosaminuria

AGK

Cataract 38, autosomal recessive

Sengers syndrome

AGL

Glycogen storage disease IIIa

Glycogen storage disease IIIb

Glycogen Storage Disease Type III

AGPAT2

Lipodystrophy, congenital generalized

Berardinelli-Seip Congenital Lipodystrophy

AGPS

Rhizomelic chondrodysplasia punctata, type 3

AGRN

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

AGT

Renal tubular dysgenesis

AGTPBP1

Neurodegeneration, childhood-onset

AGTR1

Renal tubular dysgenesis

AGXT

Hyperoxaluria, primary

Primary Hyperoxaluria Type 1

AHCY

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

AHDC1

Xia-Gibbs syndrome

Xia-Gibbs Syndrome

AHI1

Joubert syndrome 3

Joubert Syndrome

AIFM1

Combined oxidative phosphorylation deficiency 6

Cowchock syndrome

Deafness, X-linked 5

Spondyloepimetaphyseal dysplasia, X-linked

Charcot-Marie-Tooth Hereditary Neuropathy Overview

AIMP1

Leukodystrophy, hypomyelinating

AIP

Pituitary adenoma 1, multiple types

Pituitary adenoma predisposition

AIP Familial Isolated Pituitary Adenomas

AIPL1

Cone-rod dystrophy

Leber congenital amaurosis 4

Retinitis pigmentosa, juvenile

Nonsyndromic Retinitis Pigmentosa Overview

AIRE

Autoimmune polyendocrinopathy syndrome , type I

AK2

Reticular dysgenesis

AKR1D1

Bile acid synthesis defect, congenital

AKT2

Diabetes mellitus, type II

Hypoinsulinemic hypoglycemia with hemihypertrophy

AKT3

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2

MPPH Syndrome

ALAD

Porphyria, acute hepatic

ALAS2

Anemia, sideroblastic

Protoporphyria, erythropoietic

X-Linked Protoporphyria

ALB

Analbuminemia

ALDH18A1

Cutis laxa, autosomal dominant 3

Cutis laxa, autosomal recessive

Spastic paraplegia 9A, autosomal dominant

Spastic paraplegia 9B, autosomal recessive

ALDH1A3

Microphthalmia, isolated 8

ALDH3A2

Sjogren-Larsson syndrome

ALDH4A1

Hyperprolinemia, type II

ALDH5A1

Succinic semialdehyde dehydrogenase deficiency

Succinic Semialdehyde Dehydrogenase Deficiency

ALDH6A1

Methylmalonate semialdehyde dehydrogenase deficiency

ALDH7A1

Epilepsy, pyridoxine-dependent

Pyridoxine-Dependent Epilepsy - ALDH7A1

ALDOA

Glycogen storage disease XII

ALDOB

Fructose intolerance, hereditary

Hereditary Fructose Intolerance

ALG1

Congenital disorder of glycosylation, type Ik

ALG11

Congenital disorder of glycosylation, type Ip

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALG12

Congenital disorder of glycosylation, type Ig

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALG13

Developmental and epileptic encephalopathy 36

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALG14

Intellectual developmental disorder with epilepsy, behavioral abnormalities

Myopathy, epilepsy

Congenital Myasthenic Syndromes Overview

ALG2

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALG3

Congenital disorder of glycosylation, type Id

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALG6

Congenital disorder of glycosylation, type Ic

ALG8

Congenital disorder of glycosylation, type Ih

Polycystic liver disease 3 with or without kidney cysts

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALG9

Congenital disorder of glycosylation, type Il

Gillessen-Kaesbach-Nishimura syndrome

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ALMS1

Alstrom syndrome

Alstrom Syndrome

ALOX12B

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

ALOXE3

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

ALPL

Hypophosphatasia, adult

Hypophosphatasia, childhood

Hypophosphatasia, infantile

Odontohypophosphatasia

Hypophosphatasia

ALS2

Amyotrophic lateral sclerosis 2, juvenile

Primary lateral sclerosis, juvenile

Spastic paralysis, infantile onset ascending

ALS2-Related Disorder

ALX3

Frontonasal dysplasia 1

ALX4

Frontonasal dysplasia 2

Parietal foramina 2

Enlarged Parietal Foramina

AMACR

Alpha-methylacyl-CoA racemase deficiency

Bile acid synthesis defect, congenital

AMELX

Amelogenesis imperfecta, type 1E

AMER1

Osteopathia striata with cranial sclerosis

Osteopathia Striata with Cranial Sclerosis

AMN

Adrenoleukodystrophy

Adrenomyeloneuropathy, adult

Imerslund-Grasbeck syndrome 2

AMPD1

Myopathy due to myoadenylate deaminase deficiency

AMPD2

Pontocerebellar hypoplasia, type 9

AMT

Glycine encephalopathy

Nonketotic Hyperglycinemia

ANK1

Spherocytosis, type 1

ANK2

Cardiac arrhythmia, ankyrin-B-related

Long QT syndrome 4

Long QT Syndrome

ANK3

Mental retardation, autosomal recessive

ANKH

Chondrocalcinosis 2

Craniometaphyseal dysplasia

Craniometaphyseal Dysplasia, Autosomal Dominant

ANKRD1

Dilated Cardiomyopathy Overview

ANKRD11

KBG syndrome

KBG Syndrome

ANKRD26

Thrombocytopenia 2

ANKRD26-Related Thrombocytopenia

ANKS6

Nephronophthisis 16

Nephronophthisis

ANO10

Spinocerebellar ataxia, autosomal recessive 10

ANO5

Gnathodiaphyseal dysplasia

Miyoshi muscular dystrophy 3

Muscular dystrophy, limb-girdle

ANO5 Muscle Disease

ANOS1

Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

ANTXR1

GAPO syndrome

ANTXR2

Hyaline fibromatosis syndrome

Hyaline Fibromatosis Syndrome

AP1B1

Keratitis-ichthyosis-deafness syndrome, autosomal recessive

AP1S1

MEDNIK syndrome

AP1S2

Pettigrew syndrome

AP3B1

Hermansky-Pudlak syndrome 2

Hermansky-Pudlak Syndrome

AP3B2

Developmental and epileptic encephalopathy 48

AP4B1

Spastic paraplegia 47, autosomal recessive

AP-4-Associated Hereditary Spastic Paraplegia

AP4E1

Spastic paraplegia 51, autosomal recessive

Stuttering, familial persistent

AP-4-Associated Hereditary Spastic Paraplegia

AP4M1

Spastic paraplegia 50, autosomal recessive

AP-4-Associated Hereditary Spastic Paraplegia

AP4S1

Spastic paraplegia 52, autosomal recessive

AP-4-Associated Hereditary Spastic Paraplegia

APC

Adenoma, periampullary

Adenomatous polyposis coli

Brain tumor-polyposis syndrome 2

Colorectal cancer, somatic

Desmoid disease, hereditary

Gardner syndrome

Gastric adenocarcinoma and proximal polyposis of the stomach

Gastric cancer, somatic

Hepatoblastoma, somatic

APC-Associated Polyposis Conditions

APC2

Cortical dysplasia, complex

Intellectual developmental disorder, autosomal recessive 74

APOB

Hypercholesterolemia, familial

Hypobetalipoproteinemia

Familial Hypercholesterolemia

APOB-Related Familial Hypobetalipoproteinemia

APTX

Ataxia, early-onset

Ataxia with Oculomotor Apraxia Type 1

AR

Androgen insensitivity

Androgen insensitivity, partial

Hypospadias 1, X-linked

Spinal and bulbar muscular atrophy of Kennedy

Spinal and Bulbar Muscular Atrophy

Androgen Insensitivity Syndrome

ARCN1

Short stature, rhizomelic

ARFGEF2

Periventricular heterotopia with microcephaly

ARG1

Argininemia

Arginase Deficiency

Urea Cycle Disorders Overview

ARHGAP31

Adams-Oliver syndrome 1

Adams-Oliver Syndrome

ARHGDIA

Nephrotic syndrome, type 8

ARHGEF9

Developmental and epileptic encephalopathy 8

ARID1A

Coffin-Siris syndrome 2

Coffin-Siris Syndrome

ARID1B

Coffin-Siris syndrome 1

Coffin-Siris Syndrome

ARID1B-Related Disorder

ARID2

Coffin-Siris syndrome 6

Coffin-Siris Syndrome

ARL13B

Joubert syndrome 8

Joubert Syndrome

ARL3

Joubert syndrome 35

Retinitis pigmentosa 83

ARL6

Bardet-Biedl syndrome 3

Retinitis pigmentosa 55

Bardet-Biedl Syndrome Overview

Nonsyndromic Retinitis Pigmentosa Overview

ARL6IP1

ARMC4

Ciliary dyskinesia, primary

ARMC9

Joubert syndrome 30

ARNT2

ARSA

Metachromatic leukodystrophy

Arylsulfatase A Deficiency

ARSB

Mucopolysaccharidosis type VI (Maroteaux-Lamy)

ARSL

Chondrodysplasia Punctata 1, X-Linked

ARV1

Developmental and epileptic encephalopathy 38

ARX

Developmental and epileptic encephalopathy 1

Hydranencephaly with abnormal genitalia

Intellectual developmental disorder, X-linked 29

Lissencephaly, X-linked 2

Partington syndrome

Proud syndrome

ASAH1

Farber lipogranulomatosis

Spinal muscular atrophy with progressive myoclonic epilepsy

ASAH1-Related Disorders

ASCC1

Barrett esophagus/esophageal adenocarcinoma

Spinal muscular atrophy with congenital bone fractures 2

ASH1L

Mental retardation, autosomal dominant 52

ASL

Argininosuccinic aciduria

Urea Cycle Disorders Overview

Argininosuccinate Lyase Deficiency

ASNS

Asparagine synthetase deficiency

Asparagine Synthetase Deficiency

ASPA

Canavan disease

Canavan Disease

ASPH

Traboulsi syndrome

ASPM

Microcephaly 5, primary

ASPM Primary Microcephaly

ASS1

Citrullinemia

Urea Cycle Disorders Overview

Citrullinemia Type I

ASXL1

Bohring-Opitz syndrome

Myelodysplastic syndrome, somatic

Bohring-Optiz Syndrome

ASXL2

Shashi-Pena syndrome

ASXL3

Bainbridge-Ropers syndrome

ASXL3-Related Disorder

ATAD3A

Harel-Yoon syndrome

Pontocerebellar hypoplasia, hypotonia

ATCAY

Ataxia, cerebellar

ATIC

AICA-ribosiduria due to ATIC deficiency

ATL1

Neuropathy, hereditary sensory

Spastic paraplegia 3A, autosomal dominant

Spastic Paraplegia 3A

ATM

Ataxia-telangiectasia

Lymphoma, B-cell non-Hodgkin

Lymphoma, mantle cell

T-cell prolymphocytic leukemia, somatic (3)

Ataxia-Telangiectasia

ATOH7

Persistent hyperplastic primary vitreous, autosomal recessive

ATP13A2

Kufor-Rakeb syndrome

Spastic paraplegia 78, autosomal recessive

ATP1A1

Charcot-Marie-Tooth disease, axonal

Hypomagnesemia, seizures

ATP1A2

Alternating hemiplegia of childhood 1

Developmental and epileptic encephalopathy 98

Fetal akinesia, respiratory insufficiency

Migraine, familial basilar

Migraine, familial hemiplegic

Familial Hemiplegic Migraine

ATP1A3

Alternating hemiplegia of childhood 2

CAPOS syndrome

Developmental and epileptic encephalopathy 99

Dystonia-12

ATP1A3-Related Neurologic Disorders

ATP2A1

Brody myopathy

ATP2B3

ATP6AP2

Congenital disorder of glycosylation, type IIr

Intellectual developmental disorder, X-linked

ATP6V0A2

Cutis laxa, autosomal recessive

Wrinkly skin syndrome

ATP6V0A2-Related Cutis Laxa

ATP6V0A4

Distal renal tubular acidosis 3, with or without sensorineural hearing loss

Hereditary Distal Renal Tubular Acidosis

ATP6V1A

Cutis laxa, autosomal recessive

Developmental and epileptic encephalopathy 93

ATP6V1B1

Distal renal tubular acidosis 2 with progressive sensorineural hearing loss

Hereditary Distal Renal Tubular Acidosis

ATP6V1B2

Deafness, congenital

Zimmermann-Laband syndrome 2

ATP7A

Menkes disease

Occipital horn syndrome

Spinal muscular atrophy, distal

Charcot-Marie-Tooth Hereditary Neuropathy Overview

ATP7A-Related Copper Transport Disorders

ATP7B

Wilson disease

Wilson Disease

ATP8A2

ATP8B1

Cholestasis, benign recurrent intrahepatic

Cholestasis, intrahepatic

Cholestasis, progressive familial intrahepatic 1

ATP8B1 Deficiency

ATRX

Alpha-thalassemia myelodysplasia syndrome, somatic

Alpha-thalassemia/mental retardation syndrome

Mental retardation-hypotonic facies syndrome, X-linked

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

AUH

3-methylglutaconic aciduria, type I

AUTS2

Intellectual developmental disorder, autosomal dominant 26

AVPR2

Diabetes insipidus, nephrogenic

Nephrogenic syndrome of inappropriate antidiuresis

Hereditary Nephrogenic Diabetes Insipidus

B3GALNT2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A

B3GALT6

Al-Gazali syndrome

Ehlers-Danlos syndrome, spondylodysplastic type

Spondyloepimetaphyseal dysplasia with joint laxity, type 1

B3GALTL

Peters-plus syndrome

B3GAT3

Multiple joint dislocations, short stature

B3GLCT

Peters-plus syndrome

Peters Plus Syndrome

B4GALNT1

Spastic paraplegia 26, autosomal recessive

B4GALT7

Ehlers-Danlos syndrome, spondylodysplastic type

B4GAT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

B9D1

Joubert syndrome 27

Joubert Syndrome

B9D2

Joubert syndrome 34

Joubert Syndrome

BAAT

Bile acid conjugation defect 1

BAG3

Cardiomyopathy, dilated

Myopathy, myofibrillar

Dilated Cardiomyopathy Overview

Charcot-Marie-Tooth Hereditary Neuropathy Overview

BANF1

Nestor-Guillermo progeria syndrome

BBS1

Bardet-Biedl syndrome 1

Bardet-Biedl Syndrome Overview

BBS10

Bardet-Biedl syndrome 10

Bardet-Biedl Syndrome Overview

BBS12

Bardet-Biedl syndrome 12

Bardet-Biedl Syndrome Overview

BBS2

Bardet-Biedl syndrome 2

Retinitis pigmentosa 74

Bardet-Biedl Syndrome Overview

BBS4

Bardet-Biedl syndrome 4

Bardet-Biedl Syndrome Overview

BBS5

Bardet-Biedl syndrome 5

Bardet-Biedl Syndrome Overview

BBS7

Bardet-Biedl syndrome 7

Bardet-Biedl Syndrome Overview

BBS9

Bardet-Biedl syndrome 9

Bardet-Biedl Syndrome Overview

BCAP31

Deafness, dystonia

BCKDHA

Maple syrup urine disease, type Ia

Maple Syrup Urine Disease

BCKDHB

Maple syrup urine disease, type Ib

Maple Syrup Urine Disease

BCL11A

Dias-Logan syndrome

BCL11A-Related Intellectual Disability

BCOR

Microphthalmia, syndromic 2

BCS1L

Bjornstad syndrome

GRACILE syndrome

Mitochondrial complex III deficiency, nuclear type 1

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

BGN

Meester-Loeys syndrome

Spondyloepimetaphyseal dysplasia, X-linked

Heritable Thoracic Aortic Disease Overview

BHLHA9

Syndactyly, mesoaxial synostotic

BICD2

Spinal muscular atrophy, lower extremity-predominant

Spinal muscular atrophy, lower extremity-predominant

BIN1

Centronuclear myopathy 2

BLM

Bloom syndrome

Wilms Tumor Predisposition

Bloom Syndrome

BLNK

BMP1

Osteogenesis imperfecta, type XIII

BMP2

Brachydactyly, type A2

Short stature, facial dysmorphism

BMP4

Microphthalmia, syndromic 6

Orofacial cleft 11

BMPER

Diaphanospondylodysostosis

BMPR1A

Polyposis syndrome, hereditary mixed

Polyposis, juvenile intestinal

Juvenile Polyposis Syndrome

BMPR1B

Acromesomelic dysplasia 3

Brachydactyly, type A1

Brachydactyly, type A2

Heritable Pulmonary Arterial Hypertension Overview

BMPR2

Pulmonary hypertension, familial primary

Pulmonary hypertension, primary

Pulmonary venoocclusive disease 1

Heritable Pulmonary Arterial Hypertension Overview

BOLA3

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia

BPTF

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

BRAF

Adenocarcinoma of lung, somatic

Cardiofaciocutaneous syndrome

Colorectal cancer, somatic

LEOPARD syndrome 3

Melanoma, malignant

Nonsmall cell lung cancer, somatic

Noonan syndrome 7

Noonan Syndrome

Cardiofaciocutaneous Syndrome

Noonan Syndrome with Multiple Lentigines

BRAT1

Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Rigidity and multifocal seizure syndrome, lethal neonatal

BRCA1

Fanconi anemia, complementation group S

BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer

Fanconi Anemia

BRCA2

Fanconi anemia, complementation group D1

Wilms tumor

BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer

Wilms Tumor Predisposition

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

BRPF1

Intellectual developmental disorder with dysmorphic facies and ptosis

BRWD3

Intellectual developmental disorder, X-linked 93

BSCL2

Encephalopathy, progressive

Lipodystrophy, congenital generalized

Neuropathy, distal hereditary motor

Silver spastic paraplegia syndrome

Berardinelli-Seip Congenital Lipodystrophy

BSCL2-Related Neurologic Disorders/Seipinopathy

BSND

Bartter syndrome, type 4a

Sensorineural deafness with mild renal dysfunction

BTD

Biotinidase deficiency

Biotinidase Deficiency

BTK

Agammaglobulinemia, X-linked 1

Isolated growth hormone deficiency, type III

X-Linked Agammaglobulinemia

C10ORF2

C12orf57

Temtamy syndrome

C12orf65

Combined oxidative phosphorylation deficiency 7

Spastic paraplegia 55, autosomal recessive

C19orf12

Neurodegeneration with brain iron accumulation 4

Neurodegeneration with Brain Iron Accumulation Disorders Overview

Mitochondrial Membrane Protein-Associated Neurodegeneration

C1QBP

Combined oxidative phosphorylation deficiency 33

C2CD3

Orofaciodigital syndrome XIV

Joubert Syndrome

C8orf37

Bardet-Biedl syndrome 21

Cone-rod dystrophy 16

Retinitis pigmentosa 64

CA2

Osteopetrosis, autosomal recessive 3

CA5A

Hyperammonemia due to carbonic anhydrase VA deficiency

Carbonic Anhydrase VA Deficiency

CA8

Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

CACNA1A

Developmental and epileptic encephalopathy 42

Episodic ataxia, type 2

Migraine, familial hemiplegic

Migraine, familial hemiplegic

Spinocerebellar ataxia 6

Spinocerebellar Ataxia Type 6

Familial Hemiplegic Migraine

CACNA1C

Brugada syndrome 3

Long QT syndrome 8

Timothy syndrome

Long QT Syndrome

CACNA1C-Related Disorders

Brugada Syndrome

CACNA1D

Primary aldosteronism, seizures

Sinoatrial node dysfunction and deafness

CACNA1E

Developmental and epileptic encephalopathy 69

CACNA1F

Aland Island eye disease

Cone-rod dystrophy, X-linked

Night blindness, congenital stationary (incomplete)

X-Linked Congenital Stationary Night Blindness

CACNA1G

Spinocerebellar ataxia 42

Spinocerebellar ataxia 42, early-onset

CACNA1S

Hypokalemic periodic paralysis, type 1

Malignant Hyperthermia Susceptibility

Hypokalemic Periodic Paralysis

CAD

Developmental and epileptic encephalopathy 50

CAMK2A

Mental retardation, autosomal dominant 53

CAMK2B

Mental retardation, autosomal dominant 54

CAMTA1

Cerebellar dysfunction with variable cognitive and behavioral abnormalities

CANT1

Desbuquois dysplasia 1

Epiphyseal dysplasia, multiple

CAPN3

Muscular dystrophy, limb-girdle

Muscular dystrophy, limb-girdle

Calpainopathy

CARD11

B-cell expansion with NFKB and T-cell anergy

Immunodeficiency 11A

Immunodeficiency 11B with atopic dermatitis

CARS2

Combined oxidative phosphorylation deficiency 27

CASK

FG syndrome 4

Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Mental retardation, with or without nystagmus

CASK Disorders

CASQ2

Ventricular tachycardia, catecholaminergic polymorphic

Catecholaminergic Polymorphic Ventricular Tachycardia

CASR

Hyperparathyroidism, neonatal

Hypocalcemia, autosomal dominant

Hypocalcemia, autosomal dominant

Hypocalciuric hypercalcemia, type I

Pancreatitis Overview

CAV1

Lipodystrophy, familial partial

Pulmonary hypertension, primary

Heritable Pulmonary Arterial Hypertension Overview

CAV3

Cardiomyopathy, familial hypertrophic

Creatine phosphokinase, elevated serum

Long QT syndrome 9

Myopathy, distal

Rippling muscle disease 2

Long QT Syndrome

CAVIN1

Lipodystrophy, congenital generalized

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

CBS

Homocystinuria, B6-responsive and nonresponsive types

Thrombosis, hyperhomocysteinemic

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

CC2D1A

Mental retardation, autosomal recessive 3

CC2D2A

COACH syndrome 2

Joubert syndrome 9

Meckel syndrome 6

Joubert Syndrome

CCBE1

Hennekam lymphangiectasia-lymphedema syndrome 1

CCDC103

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

CCDC115

Congenital disorder of glycosylation, type IIo

CCDC22

Ritscher-Schinzel syndrome 2

Ritscher-Schinzel Syndrome

CCDC39

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

CCDC40

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

CCDC47

Trichohepatoneurodevelopmental syndrome

CCDC65

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

CCDC78

CCDC8

3-M syndrome 3

Three M Syndrome

CCDC88A

CCDC88C

Hydrocephalus, congenital

CCND2

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

MPPH Syndrome

CCNK

CCNO

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

CCNQ

CCT5

Neuropathy, hereditary sensory

CD19

Immunodeficiency, common variable

CD247

CD3D

Immunodeficiency 19

CD3E

Immunodeficiency 18

Immunodeficiency 18, SCID variant

CD3G

Immunodeficiency 17, CD3 gamma deficient

CD40

Immunodeficiency with hyper-IgM, type 3

CD40LG

Immunodeficiency, X-linked

X-Linked Hyper IgM Syndrome

CD79A

Agammaglobulinemia 3

CD79B

Agammaglobulinemia 6

CD96

C syndrome

CDAN1

Dyserythropoietic anemia, congenital

Congenital Dyserythropoietic Anemia Type I

CDC45

CDH1

Blepharocheilodontic syndrome 1

Breast cancer, lobular

Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate

Endometrial carcinoma, somatic

Ovarian cancer, somatic

Hereditary Diffuse Gastric Cancer

CDH2

Agenesis of corpus callosum, cardiac

Arrhythmogenic right ventricular dysplasia, familial

CDH23

Deafness, autosomal recessive 12

Usher syndrome, type 1D

Usher syndrome, type 1D/F digenic

Usher Syndrome Type I

Hereditary Hearing Loss and Deafness Overview

CDH3

Ectodermal dysplasia, ectrodactyly

Hypotrichosis, congenital

Mental retardation, autosomal dominant 3

CDK10

Al Kaissi syndrome

CDK13

Congenital heart defects, dysmorphic facial features

CDK13-Related Disorder

CDK19

Developmental and epileptic encephalopathy 87

CDK5RAP2

Microcephaly 3, primary

CDKL5

Developmental and epileptic encephalopathy 2

CDKN1C

Beckwith-Wiedemann syndrome

IMAGE syndrome

Wilms Tumor Predisposition

Silver-Russell Syndrome

Beckwith-Wiedemann Syndrome

IMAGe Syndrome

CDKN2A

CDON

Holoprosencephaly 11

Holoprosencephaly Overview

CDSN

Hypotrichosis 2

Peeling skin syndrome 1

CDT1

Meier-Gorlin syndrome 4

CENPF

Stromme syndrome

CENPJ

Microcephaly 6, primary

CEP104

Joubert syndrome 25

Joubert Syndrome

CEP135

Microcephaly 8, primary

CEP152

Microcephaly 9, primary

Seckel syndrome 5

CEP164

Nephronophthisis 15

Nephronophthisis

CEP290

Joubert syndrome 5

Leber congenital amaurosis 10

Meckel syndrome 4

Senior-Loken syndrome 6

Joubert Syndrome

Bardet-Biedl Syndrome Overview

Nephronophthisis

CEP41

Joubert syndrome 15

Joubert Syndrome

CEP57

Mosaic variegated aneuploidy syndrome 2

CEP63

CEP83

Nephronophthisis 18

Nephronophthisis

CERS1

CERS3

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

CERT1

CFAP298

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

CFAP300

Ciliary dyskinesia, primary

CFAP410

Retinal dystrophy with macular staphyloma

Spondylometaphyseal dysplasia, axial

CFC1

Heterotaxy, visceral

CFL2

Nemaline myopathy 7, autosomal recessive

CFP

CFTR

Congenital bilateral absence of vas deferens

Cystic fibrosis

Sweat chloride elevation without CF (3)

Cystic Fibrosis and Congenital Absence of the Vas Deferens

Pancreatitis Overview

CHAMP1

Mental retardation, autosomal dominant 40

CHAT

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

CHD2

Developmental and epileptic encephalopathy 94

CHD2-Related Neurodevelopmental Disorders

CHD3

Snijders Blok-Campeau syndrome

CHD4

Sifrim-Hitz-Weiss syndrome

CHD4 Neurodevelopmental Disorder

CHD7

CHARGE syndrome

Hypogonadotropic hypogonadism 5 with or without anosmia

CHD7 Disorder

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

Esophageal Atresia/Tracheoesophageal Fistula Overview

CHD8

CHKB

Muscular dystrophy, congenital

CHM

Choroideremia

Choroideremia

CHMP1A

Pontocerebellar hypoplasia, type 8

CHRDL1

Megalocornea 1, X-linked 309300 (3)

CHRNA1

Multiple pterygium syndrome, lethal type

Myasthenic syndrome, congenital

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

CHRNA2

Epilepsy, nocturnal frontal lobe

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

CHRNA4

Epilepsy, nocturnal frontal lobe

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

CHRNB1

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

CHRND

Multiple pterygium syndrome, lethal type

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

CHRNE

Myasthenic syndrome, congenital

Myasthenic syndrome, congenital

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

CHRNG

Escobar syndrome

Multiple pterygium syndrome, lethal type

CHST14

Ehlers-Danlos syndrome, musculocontractural type 1

CHST3

Spondyloepiphyseal dysplasia with congenital joint dislocations

CHST3-Related Skeletal Dysplasia

CHSY1

Temtamy preaxial brachydactyly syndrome

CHUK

Cocoon syndrome

CIB2

Deafness, autosomal recessive 48

Usher syndrome, type IJ

Usher Syndrome Type I

CILK1

CISD2

Wolfram syndrome 2

CIT

Microcephaly 17, primary

CKAP2L

Filippi syndrome

CLCN1

Myotonia congenita, dominant

Myotonia congenita, recessive

Myotonia levior, recessive (3)

Myotonia Congenita

CLCN2

Hyperaldosteronism, familial

Leukoencephalopathy with ataxia

CLCN2-Related Leukoencephalopathy

CLCN4

Raynaud-Claes syndrome

CLCN4-Related Neurodevelopmental Disorder

CLCN5

Dent disease 1

Hypophosphatemic rickets

Nephrolithiasis, type I

Proteinuria, low molecular weight

Dent Disease

CLCN7

Hypopigmentation, organomegaly

Osteopetrosis, autosomal dominant 2

Osteopetrosis, autosomal recessive 4

CLCN7-Related Osteopetrosis

CLCNKB

Bartter syndrome, type 3

Bartter syndrome, type 4b

CLDN1

Ichthyosis, leukocyte vacuoles

CLDN14

Deafness, autosomal recessive 29

Hereditary Hearing Loss and Deafness Overview

CLDN16

Hypomagnesemia 3, renal

CLDN19

Hypomagnesemia 5, renal

CLMP

Congenital short bowel syndrome

CLN3

Ceroid lipofuscinosis, neuronal

CLN5

Ceroid lipofuscinosis, neuronal

CLN6

Ceroid lipofuscinosis, neuronal

Ceroid lipofuscinosis, neuronal

CLN8

Ceroid lipofuscinosis, neuronal

Ceroid lipofuscinosis, neuronal

CLP1

Pontocerebellar hypoplasia, type 10

CLPB

3-methylglutaconic aciduria, type VII

CLPB Deficiency

CLPP

Perrault syndrome 3

Perrault Syndrome

CLRN1

Retinitis pigmentosa 61

Usher syndrome, type 3A

Nonsyndromic Retinitis Pigmentosa Overview

CLTC

Mental retardation, autosomal dominant 56

CNGB3

Achromatopsia 3

Achromatopsia

CNNM2

Hypomagnesemia 6, renal

Hypomagnesemia, seizures

CNOT1

Holoprosencephaly 12, with or without pancreatic agenesis

Vissers-Bodmer syndrome

CNOT3

Intellectual developmental disorder with speech delay, autism

CNPY3

Developmental and epileptic encephalopathy 60

CNTNAP1

Hypomyelinating neuropathy, congenital

Lethal congenital contracture syndrome 7

Charcot-Marie-Tooth Hereditary Neuropathy Overview

CNTNAP2

Pitt-Hopkins like syndrome 1

COA6

Mitochondrial complex IV deficiency, nuclear type 13

COA8

COASY

Neurodegeneration with brain iron accumulation 6

Pontocerebellar hypoplasia, type 12

Neurodegeneration with Brain Iron Accumulation Disorders Overview

COCH

Deafness, autosomal dominant 9

Hereditary Hearing Loss and Deafness Overview

COG1

Congenital disorder of glycosylation, type IIg

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

COG4

Congenital disorder of glycosylation, type IIj

Saul-Wilson syndrome

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

Saul-Wilson Syndrome

COG5

Congenital disorder of glycosylation, type IIi

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

COG6

Congenital disorder of glycosylation, type IIl

Shaheen syndrome

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

COG7

Congenital disorder of glycosylation, type IIe

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

COG8

Congenital disorder of glycosylation, type IIh

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

COL10A1

Metaphyseal chondrodysplasia, Schmid type

Schmid Metaphyseal Chondrodysplasia

COL11A1

Deafness, autosomal dominant 37

Fibrochondrogenesis 1

Marshall syndrome

Stickler syndrome, type II

Stickler Syndrome

COL11A2

Deafness, autosomal dominant 13

Deafness, autosomal recessive 53

Fibrochondrogenesis 2

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Stickler Syndrome

Hereditary Hearing Loss and Deafness Overview

COL17A1

Epidermolysis bullosa, junctional

Epidermolysis bullosa, junctional

Epithelial recurrent erosion dystrophy

Junctional Epidermolysis Bullosa

COL1A1

Caffey disease

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Ehlers-Danlos syndrome, arthrochalasia type

Osteogenesis imperfecta, type I

Osteogenesis imperfecta, type II

Osteogenesis imperfecta, type III

Osteogenesis imperfecta, type IV

Classic Ehlers-Danlos Syndrome

COL1A1/2 Osteogenesis Imperfecta

Caffey Disease

COL1A2

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Ehlers-Danlos syndrome, arthrochalasia type

Ehlers-Danlos syndrome, cardiac valvular type

Osteogenesis imperfecta, type II

Osteogenesis imperfecta, type III

Osteogenesis imperfecta, type IV

COL1A1/2 Osteogenesis Imperfecta

COL2A1

Achondrogenesis, type II or hypochondrogenesis

Avascular necrosis of the femoral head

Czech dysplasia

Kniest dysplasia

Legg-Calve-Perthes disease

Osteoarthritis with mild chondrodysplasia

Platyspondylic skeletal dysplasia, Torrance type

SED congenita

SMED Strudwick type

Spondyloepiphyseal dysplasia, Stanescu type

Spondyloperipheral dysplasia

Stickler sydrome, type I

Stickler syndrome, type I

Stickler Syndrome

Type II Collagen Disorders Overview

Spondylometaphyseal Dysplasia, Corner Fracture Type

COL3A1

Ehlers-Danlos syndrome, vascular type

Polymicrogyria with or without vascular-type EDS

Vascular Ehlers-Danlos Syndrome

COL4A1

Angiopathy, hereditary

Brain small vessel disease with or without ocular anomalies

Microangiopathy and leukoencephalopathy, pontine

COL4A1-Related Disorders

COL4A2

Brain small vessel disease 2

COL4A3

Alport syndrome 2, autosomal recessive

Alport syndrome 3, autosomal dominant

Hematuria, benign familial

Alport Syndrome

COL4A4

Alport syndrome 2, autosomal recessive

Hematuria, familial benign

Alport Syndrome

COL4A5

Alport syndrome 1, X-linked

Alport Syndrome

COL5A1

Ehlers-Danlos syndrome, classic type

Fibromuscular dysplasia, multifocal

Classic Ehlers-Danlos Syndrome

COL5A2

Ehlers-Danlos syndrome, classic type

Classic Ehlers-Danlos Syndrome

COL6A1

Bethlem myopathy 1

Ullrich congenital muscular dystrophy 1

Collagen VI-Related Dystrophies

COL6A2

Bethlem myopathy 1

Ullrich congenital muscular dystrophy 1

Collagen VI-Related Dystrophies

COL6A3

Bethlem myopathy 1

Dystonia 27

Ullrich congenital muscular dystrophy 1

Collagen VI-Related Dystrophies

COL7A1

EBD inversa

EBD, Bart type

EBD, localisata variant (3)

Epidermolysis bullosa dystrophica, AD

Epidermolysis bullosa dystrophica, AR

Epidermolysis bullosa pruriginosa

Epidermolysis bullosa, pretibial

Toenail dystrophy, isolated

Transient bullous of the newborn

Dystrophic Epidermolysis Bullosa

COL9A1

Stickler syndrome, type IV

Multiple Epiphyseal Dysplasia, Dominant

Stickler Syndrome

COL9A2

Epiphyseal dysplasia, multiple

Multiple Epiphyseal Dysplasia, Dominant

Stickler Syndrome

COL9A3

Epiphyseal dysplasia, multiple

Multiple Epiphyseal Dysplasia, Dominant

Stickler Syndrome

COLEC10

3MC syndrome 3

COLEC11

3MC syndrome 2

COLQ

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

COMP

Carpal tunnel syndrome 2

Epiphyseal dysplasia, multiple

Pseudoachondroplasia

Multiple Epiphyseal Dysplasia, Dominant

Pseudoachondroplasia

COQ2

Coenzyme Q10 deficiency, primary

Primary Coenzyme Q10 Deficiency

COQ4

Coenzyme Q10 deficiency, primary

Primary Coenzyme Q10 Deficiency

COQ6

Coenzyme Q10 deficiency, primary

Primary Coenzyme Q10 Deficiency

COQ8A

Primary Coenzyme Q10 Deficiency

COQ8B

Nephrotic syndrome, type 9

Primary Coenzyme Q10 Deficiency

COQ9

Coenzyme Q10 deficiency, primary

Primary Coenzyme Q10 Deficiency

CORO1A

Immunodeficiency 8

COX10

Mitochondrial complex IV deficiency, nuclear type 3

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

COX15

Mitochondrial complex IV deficiency, nuclear type 6

COX20

Mitochondrial complex IV deficiency, nuclear type 11

COX6B1

Mitochondrial complex IV deficiency, nuclear type 7

COX7B

Linear skin defects with multiple congenital anomalies 2

Microphthalmia with Linear Skin Defects Syndrome

CP

Cerebellar ataxia

Hemosiderosis, systemic

Aceruloplasminemia

Neurodegeneration with Brain Iron Accumulation Disorders Overview

CPLANE1

Joubert syndrome 17

Orofaciodigital syndrome VI

Joubert Syndrome

CPS1

Carbamoylphosphate synthetase I deficiency

Urea Cycle Disorders Overview

CPT1A

CPT deficiency, hepatic

Carnitine Palmitoyltransferase 1A Deficiency

CPT2

CPT II deficiency, infantile

CPT II deficiency, lethal neonatal

CPT II deficiency, myopathic

Carnitine Palmitoyltransferase II Deficiency

CRADD

Intellectual developmental disorder, autosomal recessive 34

CRB1

Leber congenital amaurosis 8

Pigmented paravenous chorioretinal atrophy

Retinitis pigmentosa-12

Nonsyndromic Retinitis Pigmentosa Overview

CRB2

Focal segmental glomerulosclerosis 9

Ventriculomegaly with cystic kidney disease

CRBN

Mental retardation, autosomal recessive 2

CREB3L1

Osteogenesis imperfecta, type XVI

CREBBP

Menke-Hennekam syndrome 1

Rubinstein-Taybi syndrome 1

Rubinstein-Taybi Syndrome

CRELD1

Atrioventricular septal defect, partial

CRIPT

Short stature with microcephaly and distinctive facies

CRLF1

Cold-induced sweating syndrome 1

Cold-Induced Sweating Syndrome including Crisponi Syndrome

CRPPA

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

CRTAP

Osteogenesis imperfecta, type VII

CRX

Cone-rod retinal dystrophy-2

Leber congenital amaurosis 7

Nonsyndromic Retinitis Pigmentosa Overview

CRYAA

Cataract 9, multiple types

CRYAB

Cardiomyopathy, dilated

Cataract 16, multiple types

Myopathy, myofibrillar

Myopathy, myofibrillar

CSF1R

Brain abnormalities, neurodegeneration

Leukoencephalopathy, diffuse hereditary

CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

CSF2RA

Surfactant metabolism dysfunction, pulmonary

CSF2RB

Surfactant metabolism dysfunction, pulmonary

CSF3R

Neutropenia, severe congenital

CSNK2A1

Okur-Chung neurodevelopmental syndrome

CSNK2B

Poirier-Bienvenu neurodevelopmental syndrome

CSPP1

Joubert syndrome 21

Joubert Syndrome

CSRP3

Cardiomyopathy, hypertrophic

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

CSTA

Peeling skin syndrome 4

CSTB

Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)

Progressive Myoclonic Epilepsy Type 1

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

Dyskeratosis Congenita

CTCF

Mental retardation, autosomal dominant 21

CTDP1

Congenital cataracts, facial dysmorphism

Congenital Cataracts, Facial Dysmorphism, and Neuropathy

CTNNA2

Cortical dysplasia, complex

CTNNB1

Colorectal cancer, somatic

Exudative vitreoretinopathy 7

Hepatocellular carcinoma, somatic

Medulloblastoma, somatic

Neurodevelopmental disorder with spastic diplegia and visual defects

Ovarian cancer, somatic

Pilomatricoma, somatic

CTNND1

Blepharocheilodontic syndrome 2

CTNS

Cystinosis, atypical nephropathic

Cystinosis, late-onset juvenile or adolescent nephropathic

Cystinosis, nephropathic

Cystinosis, ocular nonnephropathic

Cystinosis

CTPS1

Immunodeficiency 24

CTSA

Galactosialidosis

CTSD

Ceroid lipofuscinosis, neuronal

CTSK

Pycnodysostosis

Pycnodysostosis

CTU2

Microcephaly, facial dysmorphism

CUBN

Imerslund-Grasbeck syndrome 1

CUL3

Neurodevelopmental disorder with or without autism or seizures

Pseudohypoaldosteronism, type IIE

Pseudohypoaldosteronism Type II

CUL4B

Mental retardation, X-linked

CUL7

3-M syndrome 1

Three M Syndrome

CWC27

Retinitis pigmentosa with or without skeletal anomalies

CWF19L1

Spinocerebellar ataxia, autosomal recessive 17

CXCR4

Myelokathexis, isolated

WHIM syndrome 1

CYB5R3

Methemoglobinemia, type I

Methemoglobinemia, type II

CYBA

Chronic granulomatous disease 4, autosomal recessive

Chronic Granulomatous Disease

CYBB

Chronic granulomatous disease, X-linked

Immunodeficiency 34, mycobacteriosis

Chronic Granulomatous Disease

CYC1

Mitochondrial complex III deficiency, nuclear type 6

CYP11A1

Adrenal insufficiency, congenital

CYP11B1

Adrenal hyperplasia, congenital

Aldosteronism, glucocorticoid-remediable

CYP11B2

Aldosterone to renin ratio raised (3)

Hypoaldosteronism, congenital

Hypoaldosteronism, congenital

CYP17A1

17,20-lyase deficiency, isolated

17-alpha-hydroxylase/17,20-lyase deficiency

CYP21A2

Adrenal hyperplasia, congenital

Hyperandrogenism, nonclassic type

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

CYP24A1

Hypercalcemia, infantile

CYP27A1

Cerebrotendinous xanthomatosis

Cerebrotendinous Xanthomatosis

CYP27B1

Vitamin D-dependent rickets, type I

CYP2U1

Spastic paraplegia 56, autosomal recessive

CYP4F22

Ichthyosis, congenital

CYP7B1

Bile acid synthesis defect, congenital

Spastic paraplegia 5A, autosomal recessive

D2HGDH

D-2-hydroxyglutaric aciduria

DAG1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

DARS1

Hypomyelination with brainstem and spinal cord involvement and leg spasticity

DARS2

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

DBT

Maple syrup urine disease, type II

Maple Syrup Urine Disease

DCAF17

Woodhouse-Sakati syndrome

Neurodegeneration with Brain Iron Accumulation Disorders Overview

Woodhouse-Sakati Syndrome

DCDC2

Nephronophthisis 19

Sclerosing cholangitis, neonatal

Nephronophthisis

DCHS1

Mitral valve prolapse 2

Van Maldergem syndrome 1

DCLRE1C

Omenn syndrome

Severe combined immunodeficiency, Athabascan type

DCX

Lissencephaly, X-linked

Subcortical laminal heterotopia, X-linked

DCX-Related Disorders

DDB2

Xeroderma pigmentosum, group E

Xeroderma Pigmentosum

DDC

Aromatic L-amino acid decarboxylase deficiency

DDHD1

Spastic paraplegia 28, autosomal recessive

DDHD2

Spastic paraplegia 54, autosomal recessive

DDR2

Spondylometaepiphyseal dysplasia, short limb-hand type

Warburg-Cinotti syndrome

DDX11

Warsaw breakage syndrome

Warsaw Syndrome

DDX3X

Intellectual developmental disorder, X-linked

DDX3X-Related Neurodevelopmental Disorder

DDX59

Orofaciodigital syndrome V

DDX6

Intellectual developmental disorder with impaired language and dysmorphic facies

DEAF1

Neurodevelopmental disorder with hypotonia, impaired expressive language

Vulto-van Silfout-de Vries syndrome

DENND5A

Developmental and epileptic encephalopathy 49

DEPDC5

Epilepsy, familial focal

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

DEPDC5-Related Epilepsy

DES

Cardiomyopathy, dilated

Myopathy, myofibrillar

Scapuloperoneal syndrome, neurogenic

Dilated Cardiomyopathy Overview

DFNA5

Deafness, autosomal dominant 5

DFNB59

Deafness, autosomal recessive 59

DGAT1

DGKE

Nephrotic syndrome, type 7

Genetic Atypical Hemolytic-Uremic Syndrome

C3 Glomerulopathy

DGUOK

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Portal hypertension, noncirrhotic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

Deoxyguanosine Kinase Deficiency

DHCR24

Desmosterolosis

DHCR7

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz Syndrome

DHDDS

Developmental delay and seizures with or without movement abnormalities

Retinitis pigmentosa 59

Nonsyndromic Retinitis Pigmentosa Overview

DHH

46XY gonadal dysgenesis with minifascicular neuropathy

46XY sex reversal 7

Nonsyndromic Disorders of Testicular Development

DHODH

Miller syndrome

DHTKD1

Alpha-aminoadipic and alpha-ketoadipic aciduria

Charcot-Marie-Tooth Hereditary Neuropathy Overview

DHX16

Neuromuscular disease and ocular or auditory anomalies with or without seizures

DHX30

Neurodevelopmental disorder with severe motor impairment and absent language

DHX37

46, XY sex reversal 11

Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies

DIAPH1

Deafness, autosomal dominant 1

Seizures, cortical blindness

Hereditary Hearing Loss and Deafness Overview

DIS3L2

Perlman syndrome

Wilms Tumor Predisposition

DKC1

Dyskeratosis congenita, X-linked

Dyskeratosis Congenita

DLAT

Pyruvate dehydrogenase E2 deficiency

Primary Pyruvate Dehydrogenase Complex Deficiency Overview

DLD

Dihydrolipoamide dehydrogenase deficiency

Dihydrolipoamide Dehydrogenase Deficiency

Primary Pyruvate Dehydrogenase Complex Deficiency Overview

DLG3

Intellectual developmental disorder, X-linked 90

DLG4

Intellectual developmental disorder 62

DLL1

Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Holoprosencephaly Overview

DLL3

Spondylocostal dysostosis 1, autosomal recessive

Spondylocostal Dysostosis, Autosomal Recessive

DLL4

Adams-Oliver syndrome 6

Adams-Oliver Syndrome

DLX5

Split-hand/foot malformation 1

DMD

Becker muscular dystrophy

Cardiomyopathy, dilated

Duchenne muscular dystrophy

Dystrophinopathies

NR0B1-Related Adrenal Hypoplasia Congenita

DMP1

Hypophosphatemic rickets, AR

DMPK

Myotonic dystrophy 1

Myotonic Dystrophy Type 1

DMXL2

Developmental and epileptic encephalopathy 81

DNA2

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6

DNAAF1

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAAF3

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAAF4

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAAF5

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAH11

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAH5

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAH9

Ciliary dyskinesia, primary

DNAI1

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DNAJB6

Muscular dystrophy, limb-girdle

DNAJC12

Hyperphenylalaninemia, mild

DNAJC19

3-methylglutaconic aciduria, type V

DNAJC3

DNAJC5

Ceroid lipofuscinosis, neuronal

DNM1

Developmental and epileptic encephalopathy 31

DNM1L

Encephalopathy, lethal

Optic atrophy 5

DNM2

Centronuclear myopathy 1

Charcot-Marie-Tooth disease, axonal type 2M

Charcot-Marie-Tooth disease, dominant intermediate B

Lethal congenital contracture syndrome 5

DNMT3A

Acute myeloid leukemia, somatic

Heyn-Sproul-Jackson syndrome

Tatton-Brown-Rahman syndrome

DNMT3B

Facioscapulohumeral muscular dystrophy 4, digenic

Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Facioscapulohumeral Muscular Dystrophy

DOCK6

Adams-Oliver syndrome 2

Adams-Oliver Syndrome

DOCK7

Developmental and epileptic encephalopathy 23

DOCK8

Hyper-IgE recurrent infection syndrome, autosomal recessive

DOK7

Fetal akinesia deformation sequence 3

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

DOLK

Congenital disorder of glycosylation, type Im

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

DPAGT1

Congenital disorder of glycosylation, type Ij

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

DPF2

Coffin-Siris syndrome 7

Coffin-Siris Syndrome

DPM1

Congenital disorder of glycosylation, type Ie

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

DPM2

Congenital disorder of glycosylation, type Iu

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

DPYD

5-fluorouracil toxicity

Dihydropyrimidine dehydrogenase deficiency

DRC1

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

DSC2

Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair

Arrhythmogenic right ventricular dysplasia 11

Arrhythmogenic Right Ventricular Cardiomyopathy

DSE

Ehlers-Danlos syndrome, musculocontractural type 2

DSG1

Erythroderma, congenital

Keratosis palmoplantaris striata I, AD

DSG2

Arrhythmogenic right ventricular dysplasia 10

Cardiomyopathy, dilated

Arrhythmogenic Right Ventricular Cardiomyopathy

Dilated Cardiomyopathy Overview

DSP

Arrhythmogenic right ventricular dysplasia 8

Cardiomyopathy, dilated

Dilated cardiomyopathy with woolly hair, keratoderma

Epidermolysis bullosa, lethal acantholytic

Keratosis palmoplantaris striata II

Skin fragility-woolly hair syndrome

Arrhythmogenic Right Ventricular Cardiomyopathy

DST

Epidermolysis bullosa simplex 3, localized or generalized intermediate

DSTYK

Congenital anomalies of kidney and urinary tract 1

Spastic paraplegia 23

DTNA

Left ventricular noncompaction 1, with or without congenital heart defects

DUOX2

Thyroid dyshormonogenesis 6

DUOXA2

Thyroid dyshormonogenesis 5

DVL1

Robinow syndrome, autosomal dominant 2

Autosomal Dominant Robinow Syndrome

DVL3

Robinow syndrome, autosomal dominant 3

Autosomal Dominant Robinow Syndrome

DYM

Dyggve-Melchior-Clausen disease

Smith-McCort dysplasia

DYNC1H1

Charcot-Marie-Tooth disease, axonal

Mental retardation, autosomal dominant 13

Spinal muscular atrophy, lower extremity-predominant 1

Charcot-Marie-Tooth Hereditary Neuropathy Overview

DYNC2H1

Short-rib thoracic dysplasia 3 with or without polydactyly

DYRK1A

Mental retardation, autosomal dominant 7

DYRK1A Syndrome

DYSF

Miyoshi muscular dystrophy 1

Muscular dystrophy, limb-girdle

Myopathy, distal

Dysferlinopathy

EARS2

Combined oxidative phosphorylation deficiency 12

EBF3

Hypotonia, ataxia

EBF3 Neurodevelopmental Disorder

EBP

Chondrodysplasia punctata, X-linked dominant

MEND syndrome

Chondrodysplasia Punctata 2, X-Linked

ECEL1

Arthrogryposis, distal

ECHS1

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency

EDA

Ectodermal dysplasia 1, hypohidrotic

Tooth agenesis, selective

Hypohidrotic Ectodermal Dysplasia

EDAR

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type

Hypohidrotic Ectodermal Dysplasia

EDARADD

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type

Hypohidrotic Ectodermal Dysplasia

EDN3

Waardenburg syndrome, type 4B

EDNRA

Mandibulofacial dysostosis with alopecia

EDNRB

ABCD syndrome

Waardenburg syndrome, type 4A

EED

Cohen-Gibson syndrome

EED-Related Overgrowth

EEF1A2

Developmental and epileptic encephalopathy 33

Mental retardation, autosomal dominant 38

EFEMP2

Cutis laxa, autosomal recessive

EFEMP2-Related Cutis Laxa

EFHC1

EFNB1

Craniofrontonasal dysplasia

EFTUD2

Mandibulofacial dysostosis, Guion-Almeida type

Mandibulofacial Dysostosis with Microcephaly

EGR2

Charcot-Marie-Tooth disease, type 1D

Dejerine-Sottas disease

Hypomyelinating neuropathy, congenital

Charcot-Marie-Tooth Hereditary Neuropathy Overview

EHMT1

Kleefstra syndrome 1

Kleefstra Syndrome

EIF2AK3

Wolcott-Rallison syndrome

EIF2B1

Leukoencephalopathy with vanishing white matter

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B2

Leukoencephalopathy with vanishing white matter

Ovarioleukodystrophy

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B3

Leukoencephalopathy with vanishing white matter

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B4

Leukoencephalopathy with vanishing white matter

Ovarioleukodystrophy

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2B5

Leukoencephalopathy with vanishing white matter

Ovarioleukodystrophy

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter

EIF2S3

MEHMO syndrome

EIF4A3

Robin sequence with cleft mandible and limb anomalies

ELANE

Neutropenia, cyclic

Neutropenia, severe congenital 1

ELANE-Related Neutropenia

ELMO2

Vascular malformation, primary intraosseous

ELN

Cutis laxa, autosomal dominant

Supravalvar aortic stenosis

Williams Syndrome

ELOVL4

Ichthyosis, spastic quadriplegia

Spinocerebellar ataxia 34

Stargardt disease 3

ELP1

Dysautonomia, familial

Medulloblastoma

Osteogenesis imperfecta 21

Familial Dysautonomia

ELP2

Intellectual developmental disorder, autosomal recessive 58

EMC1

Cerebellar atrophy, visual impairment

EMD

Emery-Dreifuss muscular dystrophy 1, X-linked

Emery-Dreifuss Muscular Dystrophy

EMG1

Bowen-Conradi syndrome

ENG

Telangiectasia, hereditary hemorrhagic

Hereditary Hemorrhagic Telangiectasia

ENPP1

Arterial calcification, generalized

Cole disease

Hypophosphatemic rickets, autosomal recessive

Generalized Arterial Calcification of Infancy

ENTPD1

Spastic paraplegia 64, autosomal recessive

EOGT

Adams-Oliver syndrome 4

Adams-Oliver Syndrome

EPB42

Spherocytosis, type 5

EPB42-Related Hereditary Spherocytosis

EPCAM

Colorectal cancer, hereditary nonpolyposis

Diarrhea 5, with tufting enteropathy

Lynch Syndrome

EPG5

Vici syndrome

EPHB4

Capillary malformation-arteriovenous malformation 2

Lymphatic malformation 7

Capillary Malformation-Arteriovenous Malformation Syndrome

EPM2A

Epilepsy, progressive myoclonic 2A (Lafora)

Epilepsy, progressive myoclonic 2B (Lafora)

Progressive Myoclonus Epilepsy, Lafora Type

EPRS1

ERCC1

Cerebrooculofacioskeletal syndrome 4

Xeroderma Pigmentosum

ERCC2

Trichothiodystrophy 1, photosensitive

Xeroderma pigmentosum, group D

Xeroderma Pigmentosum

ERCC3

Trichothiodystrophy 2, photosensitive

Xeroderma pigmentosum, group B

Xeroderma Pigmentosum

ERCC4

Fanconi anemia, complementation group Q

XFE progeroid syndrome

Xeroderma pigmentosum, group F

Xeroderma pigmentosum, type F/Cockayne syndrome

Xeroderma Pigmentosum

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

ERCC5

Cerebrooculofacioskeletal syndrome 3

Xeroderma pigmentosum, group G

Xeroderma pigmentosum, group G/Cockayne syndrome

Xeroderma Pigmentosum

ERCC6

Cerebrooculofacioskeletal syndrome 1

Cockayne syndrome, type B

Premature ovarian failure 11

UV-sensitive syndrome 1

Cockayne Syndrome

ERCC6L2

Bone marrow failure syndrome 2

ERCC8

Cockayne syndrome, type A

UV-sensitive syndrome 2

Cockayne Syndrome

ERF

Chitayat syndrome

Craniosynostosis 4

ERLIN1

Spastic paraplegia 62

ERLIN2

Spastic paraplegia 18, autosomal recessive

ESCO2

Juberg-Hayward syndrome

Roberts-SC phocomelia syndrome

ESCO2 Spectrum Disorder

ESRRB

Deafness, autosomal recessive 35

Hereditary Hearing Loss and Deafness Overview

ETFA

Glutaric acidemia IIA

Multiple Acyl-CoA Dehydrogenase Deficiency

ETFB

Glutaric acidemia IIB

Multiple Acyl-CoA Dehydrogenase Deficiency

ETFDH

Glutaric acidemia IIC

Multiple Acyl-CoA Dehydrogenase Deficiency

ETHE1

Ethylmalonic encephalopathy

Ethylmalonic Encephalopathy

EVC

Ellis-van Creveld syndrome

EVC2

Ellis-van Creveld syndrome

Weyers acrofacial dysostosis

EXOSC3

Pontocerebellar hypoplasia, type 1B

EXOSC3 Pontocerebellar Hypoplasia

EXOSC8

Pontocerebellar hypoplasia, type 1C

EXOSC9

Pontocerebellar hypoplasia, type 1D

EXPH5

Epidermolysis bullosa simplex 4, localized or generalized intermediate

Epidermolysis Bullosa Simplex

EXT1

Chondrosarcoma

Exostoses, multiple

Hereditary Multiple Osteochondromas

Trichorhinophalangeal Syndrome

EXT2

Exostoses, multiple

Seizures, scoliosis

Hereditary Multiple Osteochondromas

EXTL3

Immunoskeletal dysplasia with neurodevelopmental abnormalities

EYA1

Anterior segment anomalies with or without cataract

Branchiootic syndrome 1

Branchiootorenal syndrome 1, with or without cataracts

Branchiootorenal Spectrum Disorder

EYA4

Deafness, autosomal dominant 10

Dilated Cardiomyopathy Overview

Hereditary Hearing Loss and Deafness Overview

EZH2

Weaver syndrome

EZH2-Related Overgrowth

F10

Factor X deficiency

F11

Factor XI deficiency, autosomal dominant

Factor XI deficiency, autosomal recessive

F13A1

Factor XIIIA deficiency

F2

Dysprothrombinemia

Hypoprothrombinemia

Thrombophilia 1 due to thrombin defect

Prothrombin Thrombophilia

F7

Factor VII deficiency

F8

Hemophilia A

Thrombophilia 13, X-linked

Hemophilia A

F9

Hemophilia B

Thrombophilia 8, X-linked

Hemophilia B

FA2H

Spastic paraplegia 35, autosomal recessive

Fatty Acid Hydroxylase-Associated Neurodegeneration

Neurodegeneration with Brain Iron Accumulation Disorders Overview

FADD

Immunodeficiency 90 with encephalopathy, functional hyposplenia

FAH

Tyrosinemia, type I

FAM111A

Gracile bone dysplasia

Kenny-Caffey syndrome, type 2

FAM126A

Leukodystrophy, hypomyelinating

Hypomyelination and Congenital Cataract

FAM149B1

Joubert syndrome 36

FAM161A

Retinitis pigmentosa 28

Nonsyndromic Retinitis Pigmentosa Overview

FAM20A

Amelogenesis imperfecta, type IG (enamel-renal syndrome)

FAM20C

Raine syndrome

FAM58A

STAR syndrome

FANCA

Fanconi anemia, complementation group A

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCB

Fanconi anemia, complementation group B

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCC

Fanconi anemia, complementation group C

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCD2

Fanconi anemia, complementation group D2

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCE

Fanconi anemia, complementation group E

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCF

Fanconi anemia, complementation group F

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCG

Fanconi anemia, complementation group G

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCI

Fanconi anemia, complementation group I

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCL

Fanconi anemia, complementation group L

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FANCM

Spermatogenic failure 28

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

FAR1

Cataracts, spastic paraparesis

Peroxisomal fatty acyl-CoA reductase 1 disorder

FARS2

Combined oxidative phosphorylation deficiency 14

Spastic paraplegia 77, autosomal recessive

FARS2 Deficiency

FASTKD2

Combined oxidative phosphorylation deficiency 44

FAT4

Hennekam lymphangiectasia-lymphedema syndrome 2

Van Maldergem syndrome 2

FBLN5

Cutis laxa, autosomal recessive

Macular degeneration, age-related

Neuropathy, hereditary

FBLN5-Related Cutis Laxa

FBN1

Acromicric dysplasia

Ectopia lentis, familial

Geleophysic dysplasia 2

MASS syndrome

Marfan lipodystrophy syndrome

Marfan syndrome

Stiff skin syndrome

Weill-Marchesani syndrome 2, dominant

Weill-Marchesani Syndrome

Heritable Thoracic Aortic Disease Overview

FBN1-Related Marfan Syndrome

Geleophysic Dysplasia

FBN2

Contractural arachnodactyly, congenital

Macular degeneration, early-onset

Congenital Contractural Arachnodactyly

FBP1

Fructose-1,6-bisphosphatase deficiency

Fructose-1,6-Bisphosphatase Deficiency

FBXL4

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)

FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome

FBXO11

Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

FBXW11

Neurodevelopmental, jaw

FCSK

Congenital disorder of glycosylation with defective fucosylation 2

FEZF1

Hypogonadotropic hypogonadism 22, with or without anosmia

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

FGA

Afibrinogenemia, congenital

Amyloidosis, familial visceral

Dysfibrinogenemia, congenital

Hypodysfibrinogenemia, congenital

FGB

Afibrinogenemia, congenital

Dysfibrinogenemia, congenital

Hypofibrinogenemia, congenital

FGD1

Aarskog-Scott syndrome

Mental retardation, X-linked syndromic 16

FGD4

Charcot-Marie-Tooth disease, type 4H

FGF10

Aplasia of lacrimal and salivary glands

LADD syndrome

FGF12

Developmental and epileptic encephalopathy 47

Brugada Syndrome

FGF3

Deafness, congenital with inner ear agenesis

Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

FGF8

Hypogonadotropic hypogonadism 6 with or without anosmia

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

Holoprosencephaly Overview

FGF9

Multiple synostoses syndrome 3

FGFR1

Encephalocraniocutaneous lipomatosis, somatic mosaic

Hartsfield syndrome

Hypogonadotropic hypogonadism 2 with or without anosmia

Jackson-Weiss syndrome

Osteoglophonic dysplasia

Pfeiffer syndrome

Trigonocephaly 1

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

FGFR Craniosynostosis Syndromes Overview

FGFR1-Related Hartsfield Syndrome

Encephalocraniocutaneous Lipomatosis

FGFR2

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Apert syndrome

Beare-Stevenson cutis gyrata syndrome

Bent bone dysplasia syndrome

Craniofacial-skeletal-dermatologic dysplasia

Craniosynostosis, nonspecific (3)

Crouzon syndrome

Gastric cancer, somatic

Jackson-Weiss syndrome

LADD syndrome

Pfeiffer syndrome

Saethre-Chotzen syndrome

Scaphocephaly and Axenfeld-Rieger anomaly (3)

Scaphocephaly, maxillary retrusion

FGFR Craniosynostosis Syndromes Overview

Apert Syndrome

FGFR3

Achondroplasia

Bladder cancer, somatic

CATSHL syndrome

Cervical cancer, somatic

Colorectal cancer, somatic

Crouzon syndrome with acanthosis nigricans

Hypochondroplasia

LADD syndrome

Muenke syndrome

Nevus, epidermal

SADDAN

Spermatocytic seminoma, somatic

Thanatophoric dysplasia, type I

Thanatophoric dysplasia, type II

Achondroplasia

Thanatophoric Dysplasia

Muenke Syndrome

FGFR Craniosynostosis Syndromes Overview

Hypochondroplasia

FGG

Afibrinogenemia, congenital

Dysfibrinogenemia, congenital

Hypodysfibrinogenemia

Hypofibrinogenemia, congenital

FH

Fumarase deficiency

Hypercholesterolemia, familial

LDL cholesterol level QTL2

Leiomyomatosis and renal cell cancer

FH Tumor Predisposition Syndrome

Fumarate Hydratase Deficiency

FHL1

Emery-Dreifuss muscular dystrophy 6, X-linked

Hemophagocytic lymphohistiocytosis, familial

Myopathy, X-linked

Reducing body myopathy, X-linked 1a

Reducing body myopathy, X-linked 1b

Scapuloperoneal myopathy, X-linked dominant

Emery-Dreifuss Muscular Dystrophy

FKBP10

Bruck syndrome 1

Osteogenesis imperfecta, type XI

FKBP14

Ehlers-Danlos syndrome, kyphoscoliotic type

FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

FKRP

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

FKTN

Cardiomyopathy, dilated

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

Fukuyama Congenital Muscular Dystrophy

FLAD1

Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

FLCN

Birt-Hogg-Dube syndrome

Colorectal cancer, somatic

Pneumothorax, primary spontaneous

Renal carcinoma, chromophobe

Birt-Hogg-Dube Syndrome

Potocki-Lupski Syndrome

FLNA

Cardiac valvular dysplasia, X-linked

Congenital short bowel syndrome

Frontometaphyseal dysplasia 1

Heterotopia, periventricular

Intestinal pseudoobstruction, neuronal

Melnick-Needles syndrome

Otopalatodigital syndrome, type I

Otopalatodigital syndrome, type II

Terminal osseous dysplasia

FLNA Deficiency

X-Linked Otopalatodigital Spectrum Disorders

FLNB

Atelosteogenesis, type I

Atelosteogenesis, type III

Boomerang dysplasia

Larsen syndrome

Spondylocarpotarsal synostosis syndrome

FLNB Disorders

FLNC

Cardiomyopathy, familial hypertrophic

Cardiomyopathy, familial restrictive 5

Myopathy, distal

Myopathy, myofibrillar

FLT4

Congenital heart defects, multiple types

Hemangioma, capillary infantile

Lymphatic malformation 1

Milroy Disease

FLVCR1

Ataxia, posterior column

FLVCR2

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

FMN2

Intellectual developmental disorder, autosomal recessive 47

FMR1

Fragile X syndrome

Fragile X tremor/ataxia syndrome

Premature ovarian failure 1

FMR1 Disorders

FN1

Glomerulopathy with fibronectin deposits 2

Spondylometaphyseal dysplasia, corner fracture type

Spondylometaphyseal Dysplasia, Corner Fracture Type

FOLR1

Neurodegeneration due to cerebral folate transport deficiency

FOXC1

Anterior segment dysgenesis 3, multiple subtypes

Axenfeld-Rieger syndrome, type 3

FOXC2

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus

Lymphedema-distichiasis syndrome

Lymphedema-Distichiasis Syndrome

FOXE3

Anterior segment dysgenesis 2, multiple subtypes

Cataract 34, multiple types

Heritable Thoracic Aortic Disease Overview

FOXF1

Alveolar capillary dysplasia with misalignment of pulmonary veins

FOXG1

Rett syndrome, congenital variant

FOXL2

Blepharophimosis, epicanthus inversus

Blepharophimosis, epicanthus inversus

Premature ovarian failure 3

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome

FOXN1

T-cell immunodeficiency, congenital alopecia

T-cell lymphopenia, infantile

FOXP1

Mental retardation with language impairment and with or without autistic features

FOXP3

Immunodysregulation, polyendocrinopathy

IPEX Syndrome

FOXRED1

Mitochondrial complex I deficiency, nuclear type 19

FRAS1

Fraser syndrome 1

FREM1

Bifid nose with or without anorectal and renal anomalies

Manitoba oculotrichoanal syndrome

Trigonocephaly 2

FREM1 Autosomal Recessive Disorders

FREM2

Cryptophthalmos, unilateral or bilateral

Fraser syndrome 2

FRMPD4

Intellectual developmental disorder, X-linked 104

FRRS1L

Developmental and epileptic encephalopathy 37

FTCD

Glutamate formiminotransferase deficiency

FTL

Hyperferritinemia-cataract syndrome

L-ferritin deficiency, dominant and recessive

Neurodegeneration with brain iron accumulation 3

Neuroferritinopathy

Neurodegeneration with Brain Iron Accumulation Disorders Overview

FTSJ1

Intellectual developmental disorder, X-linked 9

FUCA1

Fucosidosis

FUT8

Congenital disorder of glycosylation with defective fucosylation 1

FXN

Friedreich ataxia with retained reflexes

Friedreich ataxia

Friedreich Ataxia

G6PC

Glycogen storage disease Ia

G6PC3

Dursun syndrome

Neutropenia, severe congenital 4

G6PC3 Deficiency

G6PD

Hemolytic anemia, G6PD deficient (favism)

GAA

Glycogen storage disease II

Pompe Disease

GABBR2

Developmental and epileptic encephalopathy 59

Neurodevelopmental disorder with poor language and loss of hand skills

GABRA1

Developmental and epileptic encephalopathy 19

GABRB1

Developmental and epileptic encephalopathy 45

GABRB2

Developmental and epileptic encephalopathy 92

GABRB3

Developmental and epileptic encephalopathy 43

Prader-Willi Syndrome

GABRG2

Developmental and epileptic encephalopathy 74

Febrile seizures, familial

Generalized epilepsy with febrile seizures plus, type 3

GAD1

Developmental and epileptic encephalopathy 89

GALC

Krabbe disease

Krabbe Disease

GALE

Galactose epimerase deficiency

Epimerase Deficiency Galactosemia

GALK1

Galactokinase deficiency with cataracts

GALNS

Mucopolysaccharidosis IVA

Mucopolysaccharidosis Type IVA

GALT

Galactosemia

Classic Galactosemia and Clinical Variant Galactosemia

Duarte Variant Galactosemia

GAMT

Cerebral creatine deficiency syndrome 2

Creatine Deficiency Disorders

GAN

Giant axonal neuropathy-1

GAN-Related Neurodegeneration

GAS8

Ciliary dyskinesia, primary

GATA1

Anemia, X-linked

Leukemia, megakaryoblastic

Thrombocytopenia with beta-thalassemia, X-linked

Thrombocytopenia, X-linked

GATA1-Related X-Linked Cytopenia

Diamond-Blackfan Anemia

Congenital Erythropoietic Porphyria

GATA2

Emberger syndrome

Immunodeficiency 21

GATA3

Hypoparathyroidism, sensorineural deafness

GATA4

Atrial septal defect 2

Atrioventricular septal defect 4

Tetralogy of Fallot

Ventricular septal defect 1

GATA6

Atrial septal defect 9

Atrioventricular septal defect 5

Pancreatic agenesis and congenital heart defects

Persistent truncus arteriosus

Tetralogy of Fallot

GATAD2B

GAND syndrome

GATM

Cerebral creatine deficiency syndrome 3

Fanconi renotubular syndrome 1

Creatine Deficiency Disorders

GBA

Gaucher disease, perinatal lethal

Gaucher disease, type I

Gaucher disease, type II

Gaucher disease, type III

Gaucher disease, type IIIC

Gaucher Disease

GBA2

Spastic paraplegia 46, autosomal recessive

GBE1

Glycogen storage disease IV

Polyglucosan body disease, adult form

GBE1 Adult Polyglucosan Body Disease

Glycogen Storage Disease Type IV

GCDH

Glutaricaciduria, type I

Glutaric Acidemia Type I

GCH1

Dystonia, DOPA-responsive

Hyperphenylalaninemia, BH4-deficient

GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

GCK

Diabetes mellitus, noninsulin-dependent

Diabetes mellitus, permanent neonatal 1

Hyperinsulinemic hypoglycemia, familial

MODY, type II

Familial Hyperinsulinism

Permanent Neonatal Diabetes Mellitus

Maturity-Onset Diabetes of the Young Overview

GDAP1

Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth disease, recessive intermediate

Charcot-Marie-Tooth disease, type 4A

GDAP1-Related Hereditary Motor and Sensory Neuropathy

GDF1

Congenital heart defects, multiple types

Right atrial isomerism (Ivemark)

GDF3

Klippel-Feil syndrome 3, autosomal dominant

Microphthalmia with coloboma 6

Microphthalmia, isolated 7

GDF5

Acromesomelic dysplasia 2A

Acromesomelic dysplasia 2B

Brachydactyly, type A1

Brachydactyly, type A2

Brachydactyly, type C

Multiple synostoses syndrome 2

Symphalangism, proximal

GDF6

Klippel-Feil syndrome 1, autosomal dominant

Leber congenital amaurosis 17

Microphthalmia with coloboma 6, digenic

Microphthalmia, isolated 4

Multiple synostoses syndrome 4

GDI1

Intellectual developmental disorder, X-linked 41

GEMIN4

Neurodevelopmental disorder with microcephaly, cataracts

GFAP

Alexander disease

Alexander Disease

GFER

Myopathy, mitochondrial progressive

GFM1

Combined oxidative phosphorylation deficiency 1

GFM2

Combined oxidative phosphorylation deficiency 39

GFPT1

Myasthenia, congenital

Congenital Myasthenic Syndromes Overview

GHR

Growth hormone insensitivity, partial

Increased responsiveness to growth hormone

Laron dwarfism

GIPC3

Deafness, autosomal recessive 15

GJA1

Atrioventricular septal defect 3

Craniometaphyseal dysplasia, autosomal recessive

Erythrokeratodermia variabilis et progressiva 3

Hypoplastic left heart syndrome 1

Oculodentodigital dysplasia

Oculodentodigital dysplasia, autosomal recessive

Palmoplantar keratoderma with congenital alopecia

Syndactyly, type III

GJA5

Atrial fibrillation, familial

Atrial standstill, digenic (GJA5/SCN5A)

1q21.1 Recurrent Microdeletion

GJA8

Cataract 1, multiple types

1q21.1 Recurrent Microdeletion

GJB1

Charcot-Marie-Tooth neuropathy, X-linked dominant

GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes

GJB2

Bart-Pumphrey syndrome

Deafness, autosomal dominant 3A

Deafness, autosomal recessive 1A

Hystrix-like ichthyosis with deafness

Keratitis-ichthyosis-deafness syndrome

Keratoderma, palmoplantar

Vohwinkel syndrome

Nonsyndromic Hearing Loss and Deafness, DFNB1

Hereditary Hearing Loss and Deafness Overview

Nonsyndromic Hearing Loss and Deafness, DFNA3

GJB3

Deafness, autosomal dominant 2B

Deafness, autosomal dominant

Deafness, autosomal recessive (3)

Deafness, digenic

Erythrokeratodermia variabilis et progressiva 1

Hereditary Hearing Loss and Deafness Overview

GJC2

Leukodystrophy, hypomyelinating

Lymphatic malformation 3

Pelizaeus-Merzbacher-Like Disease 1

GK

Glycerol kinase deficiency

NR0B1-Related Adrenal Hypoplasia Congenita

GLA

Fabry disease

Fabry disease, cardiac variant

Fabry Disease

GLB1

GM1-gangliosidosis, type I

GM1-gangliosidosis, type II

GM1-gangliosidosis, type III

Mucopolysaccharidosis type IVB (Morquio)

GLB1-Related Disorders

GLDC

Glycine encephalopathy

Nonketotic Hyperglycinemia

GLDN

Lethal congenital contracture syndrome 11

GLE1

Congenital arthrogryposis with anterior horn cell disease

Lethal congenital contracture syndrome 1

GLI2

Culler-Jones syndrome

Holoprosencephaly 9

Holoprosencephaly Overview

GLI3

Greig cephalopolysyndactyly syndrome

Pallister-Hall syndrome

Polydactyly, postaxial

Polydactyly, preaxial

Greig Cephalopolysyndactyly Syndrome

Pallister-Hall Syndrome

Esophageal Atresia/Tracheoesophageal Fistula Overview

GLIS2

Nephronophthisis 7

Nephronophthisis

GLIS3

Diabetes mellitus, neonatal

GLMN

Glomuvenous malformations

GLRA1

Hyperekplexia 1

Hereditary Hyperekplexia Overview

GLRX5

Anemia, sideroblastic

Spasticity, childhood-onset

GLUD1

Hyperinsulinism-hyperammonemia syndrome

Familial Hyperinsulinism

GLUL

Glutamine deficiency, congenital

GLYCTK

D-glyceric aciduria

GM2A

GM2-gangliosidosis, AB variant

GMNN

Meier-Gorlin syndrome 6

GMPPA

Alacrima, achalasia

GMPPB

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

Congenital Myasthenic Syndromes Overview

GNA11

Hypocalcemia, autosomal dominant 2

Hypocalciuric hypercalcemia, type II

GNAI3

Auriculocondylar syndrome 1

GNAO1

Developmental and epileptic encephalopathy 17

Neurodevelopmental disorder with involuntary movements

GNAQ

Capillary malformations, congenital

Sturge-Weber syndrome, somatic

GNAS

ACTH-independent macronodular adrenal hyperplasia

McCune-Albright syndrome, somatic

Osseous heteroplasia, progressive

Pituitary adenoma 3, multiple types

Pseudohypoparathyroidism Ia

Pseudohypoparathyroidism Ib

Pseudohypoparathyroidism Ic

Pseudopseudohypoparathyroidism

Fibrous Dysplasia/McCune-Albright Syndrome

Disorders of GNAS Inactivation

GNB1

Intellectual developmental disorder, autosomal dominant 42

Leukemia, acute lymphoblastic

Myelodysplastic syndrome, somatic

GNB1 Encephalopathy

GNB5

Intellectual developmental disorder with cardiac arrhythmia

Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia

GNB5-Related Neurodevelopmental Disorder

GNE

Nonaka myopathy

Sialuria

GNE Myopathy

GNPAT

Rhizomelic chondrodysplasia punctata, type 2

GNPTAB

Mucolipidosis II alpha/beta

Mucolipidosis III alpha/beta

GNPTAB-Related Disorders

GNPTG

Mucolipidosis III Gamma

GNS

Mucopolysaccharidosis type IIID

Mucopolysaccharidosis Type III

GORAB

Geroderma osteodysplasticum

GOSR2

Epilepsy, progressive myoclonic 6

GOT2

Developmental and epileptic encephalopathy 82

GPAA1

Glycosylphosphatidylinositol biosynthesis defect 15

GPC3

Simpson-Golabi-Behmel syndrome, type 1

Wilms tumor, somatic

Simpson-Golabi-Behmel Syndrome Type 1

Wilms Tumor Predisposition

GPC6

Omodysplasia 1

GPD1L

Brugada syndrome 2

Brugada Syndrome

GPHN

Molybdenum cofactor deficiency C

Molybdenum Cofactor Deficiency

GPR143

Nystagmus 6, congenital

Ocular albinism, type I

GPR56

Polymicrogyria, bilateral frontoparietal

Polymicrogyria, bilateral perisylvian

GPR98

Usher syndrome, type 2C

Usher syndrome, type 2C

GPSM2

Chudley-McCullough syndrome

GPT2

Neurodevelopmental disorder with microcephaly and spastic paraplegia

GPX4

Spondylometaphyseal dysplasia, Sedaghatian type

GREB1L

Deafness, autosomal dominant 80

Renal hypodysplasia/aplasia 3

GRHL2

Corneal dystrophy, posterior polymorphous

Deafness, autosomal dominant 28

Ectodermal dysplasia/short stature syndrome

Hereditary Hearing Loss and Deafness Overview

GRHL3

van der Woude syndrome 2

GRHPR

Hyperoxaluria, primary

Primary Hyperoxaluria Type 2

GRIA2

Neurodevelopmental disorder with language impairment and behavioral abnormalities

GRIA3

Intellectual developmental disorder, X-linked

GRID2

Spinocerebellar ataxia, autosomal recessive 18

GRIK2

Intellectual developmental disorder, autosomal recessive 6

Neurodevelopmental disorder with impaired language and ataxia and with or without seizures

GRIN1

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

GRIN1-Related Neurodevelopmental Disorder

GRIN2A

Epilepsy, focal

GRIN2A-Related Speech Disorders and Epilepsy

GRIN2B

Developmental and epileptic encephalopathy 27

Intellectual developmental disorder, autosomal dominant 6

GRIN2B-Related Neurodevelopmental Disorder

GRIN2D

Developmental and epileptic encephalopathy 46

GRIP1

Fraser syndrome 3

GRM1

Spinocerebellar ataxia 44

Spinocerebellar ataxia, autosomal recessive 13

GRM7

Neurodevelopmental disorder with seizures, hypotonia

GSS

Glutathione synthetase deficiency

Hemolytic anemia due to glutathione synthetase deficiency

GTF2H5

Trichothiodystrophy 3, photosensitive

GTPBP3

Combined oxidative phosphorylation deficiency 23

GUCY2C

Diarrhea 6

Meconium ileus

GUF1

GUSB

Mucopolysaccharidosis VII

GYS1

Glycogen storage disease 0, muscle

GYS2

Glycogen storage disease 0, liver

GZF1

Joint laxity, short stature

H1-4

HIST1H1E Syndrome

H19

Wilms Tumor Predisposition

Silver-Russell Syndrome

Beckwith-Wiedemann Syndrome

HACE1

Spastic paraplegia and psychomotor retardation with or without seizures

HADH

Familial Hyperinsulinism

HADHA

Fatty liver, acute

HELLP syndrome, maternal

LCHAD deficiency

Mitochondrial trifunctional protein deficiency

HADHB

Trifunctional protein deficiency

HARS1

Charcot-Marie-Tooth disease, axonal

Usher syndrome type 3B

Charcot-Marie-Tooth Hereditary Neuropathy Overview

HAX1

Neutropenia, severe congenital 3

HBA1

Erythrocytosis 7

Heinz body anemias, alpha-

Hemoglobin H disease, nondeletional

Methemoglobinemia, alpha type

Thalassemias, alpha-

Alpha-Thalassemia

HBA2

Erythrocytosis 7

Heinz body anemia

Hemoglobin H disease, deletional and nondeletional

Thalassemia, alpha-

Alpha-Thalassemia

HBB

Delta-beta thalassemia

Erythrocytosis 6

Heinz body anemia

Hereditary persistence of fetal hemoglobin

Methemoglobinemia, beta type

Sickle cell anemia

Thalassemia, beta

Thalassemia-beta, dominant inclusion-body

Sickle Cell Disease

Beta-Thalassemia

HCCS

Linear skin defects with multiple congenital anomalies 1

Microphthalmia with Linear Skin Defects Syndrome

HCFC1

Methylmalonic aciduria and homocysteinemia, cblX type

Disorders of Intracellular Cobalamin Metabolism

HCN1

Developmental and epileptic encephalopathy 24

Generalized epilepsy with febrile seizures plus, type 10

HDAC4

HDAC8

Cornelia de Lange syndrome 5

Cornelia de Lange Syndrome

HECW2

Neurodevelopmental disorder with hypotonia, seizures

HEPACAM

Megalencephalic leukoencephalopathy with subcortical cysts 2A

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting

Megalencephalic Leukoencephalopathy with Subcortical Cysts

HERC2

Intellectual developmental disorder, autosomal recessive 38

Prader-Willi Syndrome

HESX1

Growth hormone deficiency with pituitary anomalies

Pituitary hormone deficiency, combined

Septooptic dysplasia

HEXA

GM2-gangliosidosis, several forms

Tay-Sachs disease

HEXA Disorders

HEXB

Sandhoff disease, infantile

HFE

Hemochromatosis

HFE Hemochromatosis

HGD

Alkaptonuria

Alkaptonuria

HGSNAT

Mucopolysaccharidosis type IIIC (Sanfilippo C)

Retinitis pigmentosa 73

Mucopolysaccharidosis Type III

HIBCH

3-hydroxyisobutryl-CoA hydrolase deficiency

HINT1

Neuromyotonia and axonal neuropathy, autosomal recessive

Charcot-Marie-Tooth Hereditary Neuropathy Overview

HIVEP2

Mental retardation, autosomal dominant 43

HK1

Hemolytic anemia due to hexokinase deficiency

Neurodevelopmental disorder with visual defects and brain anomalies

Neuropathy, hereditary motor and sensory

Retinitis pigmentosa 79

HLCS

Holocarboxylase synthetase deficiency

HMGCL

HMG-CoA lyase deficiency

HMGCS2

HMG-CoA synthase-2 deficiency

HMX1

Oculoauricular syndrome

HNF1A

Diabetes mellitus, insulin-dependent

Hepatic adenoma, somatic

MODY, type III

Renal cell carcinoma

Maturity-Onset Diabetes of the Young Overview

HNF1B

Renal cysts and diabetes syndrome

Type 2 diabetes mellitus

17q12 Recurrent Deletion Syndrome

Maturity-Onset Diabetes of the Young Overview

HNF4A

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young

MODY, type I

Familial Hyperinsulinism

Maturity-Onset Diabetes of the Young Overview

HNRNPH2

Intellectual developmental disorder, X-linked

HNRNPK

Au-Kline syndrome

Au-Kline Syndrome

HNRNPU

Developmental and epileptic encephalopathy 54

HNRNPU-Related Neurodevelopmental Disorder

HOXA1

Athabaskan brainstem dysgenesis syndrome

Bosley-Salih-Alorainy syndrome

HOXA13

Hand-foot-uterus syndrome

Hand-Foot-Genital Syndrome

HOXC13

Ectodermal dysplasia 9, hair/nail type

HOXD13

Brachydactyly, type D

Brachydactyly, type E

Syndactyly, type V

Synpolydactyly 1

HPD

Hawkinsinuria

Tyrosinemia, type III

HPDL

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Spastic paraplegia 83, autosomal recessive

HPGD

Cranioosteoarthropathy

Hypertrophic osteoarthropathy, primary

HPRT1

Hyperuricemia, HRPT-related

Lesch-Nyhan syndrome

HPRT1 Disorders

HPS1

Hermansky-Pudlak syndrome 1

Hermansky-Pudlak Syndrome

HPS3

Hermansky-Pudlak syndrome 3

Hermansky-Pudlak Syndrome

HPS4

Hermansky-Pudlak syndrome 4

Hermansky-Pudlak Syndrome

HPS5

Hermansky-Pudlak syndrome 5

Hermansky-Pudlak Syndrome

HPSE2

Urofacial syndrome 1

Urofacial Syndrome

HRAS

Bladder cancer, somatic

Congenital myopathy with excess of muscle spindles

Costello syndrome

Nevus sebaceous or woolly hair nevus, somatic

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic

Spitz nevus or nevus spilus, somatic

Thyroid carcinoma, follicular

Costello Syndrome

HSD11B2

Apparent mineralocorticoid excess

HSD17B10

HSD10 mitochondrial disease

HSD17B3

Pseudohermaphroditism, male

HSD17B4

D-bifunctional protein deficiency

Perrault syndrome 1

Perrault Syndrome

HSD3B2

Adrenal hyperplasia, congenital

HSD3B7

Bile acid synthesis defect, congenital

HSPA9

Anemia, sideroblastic

Even-plus syndrome

HSPB8

Charcot-Marie-Tooth disease, axonal

Neuronopathy, distal hereditary motor

Charcot-Marie-Tooth Hereditary Neuropathy Overview

HSPD1

Leukodystrophy, hypomyelinating

Spastic paraplegia 13, autosomal dominant

HSPG2

Dyssegmental dysplasia, Silverman-Handmaker type

Schwartz-Jampel syndrome, type 1

HTRA1

CARASIL syndrome

Cerebral arteriopathy, autosomal dominant

HTRA1 Disorder

HUWE1

Intellectual developmental disorder, X-linked

HYAL1

HYDIN

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

HYLS1

Hydrolethalus syndrome

IARS1

Growth retardation, impaired intellectual development

IARS2

Cataracts, growth hormone deficiency

IBA57

Multiple mitochondrial dysfunctions syndrome 3

ICOS

Immunodeficiency, common variable

IDS

Mucopolysaccharidosis II

Mucopolysaccharidosis Type II

IDUA

Mucopolysaccharidosis Ih

Mucopolysaccharidosis Ih/s

Mucopolysaccharidosis Is

Mucopolysaccharidosis Type I

IER3IP1

Microcephaly, epilepsy

IFIH1

Aicardi-Goutieres syndrome 7

Singleton-Merten syndrome 1

Aicardi-Goutieres Syndrome

IFITM5

Osteogenesis imperfecta, type V

IFNGR2

Immunodeficiency 28, mycobacteriosis

IFT122

Cranioectodermal dysplasia 1

Cranioectodermal Dysplasia

IFT140

Retinitis pigmentosa 80

Short-rib thoracic dysplasia 9 with or without polydactyly

Cranioectodermal Dysplasia

IFT172

Bardet-Biedl syndrome 20

Retinitis pigmentosa 71

Short-rib thoracic dysplasia 10 with or without polydactyly

Joubert Syndrome

Nephronophthisis

IFT27

Bardet-Biedl syndrome 19

Bardet-Biedl Syndrome Overview

IFT43

Short-rib thoracic dysplasia 18 with polydactyly

Cranioectodermal Dysplasia

IFT80

Short-rib thoracic dysplasia 2 with or without polydactyly

IGF1

Growth retardation with deafness and mental retardation due to IGF1 deficiency

IGF1R

Insulin-like growth factor I, resistance to

IGF2

Silver-Russell syndrome 3

Wilms Tumor Predisposition

Silver-Russell Syndrome

Beckwith-Wiedemann Syndrome

IGFBP7

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

IGHMBP2

Charcot-Marie-Tooth disease, axonal

Neuronopathy, distal hereditary motor

Charcot-Marie-Tooth Hereditary Neuropathy Overview

IGSF1

Hypothyroidism, central

IHH

Acrocapitofemoral dysplasia

Brachydactyly, type A1

IKBKAP

Dysautonomia, familial

Medulloblastoma

IKBKB

Immunodeficiency 15A

Immunodeficiency 15B

IKBKG

Ectodermal dysplasia and immunodeficiency 1

Immunodeficiency 33

Incontinentia pigmenti

Incontinentia Pigmenti

IL10RA

Inflammatory bowel disease 28, early onset

IL11RA

Craniosynostosis and dental anomalies

IL12RB1

Immunodeficiency 30

IL1RAPL1

Intellectual developmental disorder, X-linked 21

NR0B1-Related Adrenal Hypoplasia Congenita

IL21R

Immunodeficiency 56

IL2RA

Immunodeficiency 41 with lymphoproliferation and autoimmunity

IL2RG

Combined immunodeficiency, X-linked

Severe combined immunodeficiency, X-linked

X-Linked Severe Combined Immunodeficiency

IL7R

Severe combined immunodeficiency, T-cell negative

ILDR1

Deafness, autosomal recessive 42

INPP5E

Joubert syndrome 1

Mental retardation, truncal obesity

Joubert Syndrome

INPP5K

Muscular dystrophy, congenital

INPPL1

Opsismodysplasia

INS

Diabetes mellitus, insulin-dependent

Diabetes mellitus, permanent neonatal 4

Hyperproinsulinemia

Maturity-onset diabetes of the young, type 10

Permanent Neonatal Diabetes Mellitus

Maturity-Onset Diabetes of the Young Overview

INSR

Diabetes mellitus, insulin-resistant

Hyperinsulinemic hypoglycemia, familial

Leprechaunism

Rabson-Mendenhall syndrome

INSR-Related Severe Syndromic Insulin Resistance

INVS

Nephronophthisis 2, infantile

Nephronophthisis

IQCB1

Senior-Loken syndrome 5

Nephronophthisis

IQSEC1

Intellectual developmental disorder with short stature and behavioral abnormalities

IQSEC2

Intellectual developmental disorder, X-linked 1

IRAK4

Immunodeficiency 67

IRF6

Popliteal pterygium syndrome 1

van der Woude syndrome 1

IRF6-Related Disorders

IRF8

Immunodeficiency 32A, mycobacteriosis

Immunodeficiency 32B, monocyte and dendritic cell deficiency

IRX5

Hamamy syndrome

ISCA2

Multiple mitochondrial dysfunctions syndrome 4

ISCA2-Related Mitochondrial Disorder

ISPD

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

ITFG2

ITGA3

Interstitial lung disease, nephrotic syndrome

ITGA6

Epidermolysis bullosa, junctional

Epidermolysis Bullosa with Pyloric Atresia

ITGA7

Muscular dystrophy, congenital

ITGA8

Renal hypodysplasia/aplasia 1

ITGB4

Epidermolysis bullosa of hands and feet

Epidermolysis bullosa, junctional

Epidermolysis bullosa, junctional

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa with Pyloric Atresia

ITK

Lymphoproliferative syndrome 1

ITPA

Developmental and epileptic encephalopathy 35

ITPR1

Gillespie syndrome

Spinocerebellar ataxia 15

Spinocerebellar ataxia 29, congenital nonprogressive

Spinocerebellar Ataxia Type 15

IVD

Isovaleric acidemia

JAG1

Alagille syndrome 1

Charcot-Marie-Tooth disease, axonal

Tetralogy of Fallot

Alagille Syndrome

JAGN1

Neutropenia, severe congenital

JAK3

SCID, autosomal recessive

JAM2

Basal ganglia calcification, idiopathic

JAM3

Hemorrhagic destruction of the brain, subependymal calcification

JUP

Naxos disease

Arrhythmogenic Right Ventricular Cardiomyopathy

KANK1

Cerebral palsy, spastic quadriplegic

KANSL1

Koolen-De Vries syndrome

Koolen-de Vries Syndrome

KARS1

Deafness, autosomal recessive 89

Deafness, congenital

Leukoencephalopathy, progressive

KAT5

Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance

KAT6A

Arboleda-Tham syndrome

KAT6B

Genitopatellar syndrome

SBBYSS syndrome

KAT6B Disorders

KAT8

Li-Ghorgani-Weisz-Hubshman syndrome

KATNB1

Lissencephaly 6, with microcephaly

KBTBD13

Nemaline myopathy 6, autosomal dominant

KCNA1

Episodic ataxia/myokymia syndrome

Episodic Ataxia Type 1

KCNA2

Developmental and epileptic encephalopathy 32

KCNA5

Atrial fibrillation, familial

KCNB1

Developmental and epileptic encephalopathy 26

KCNC1

Epilepsy, progressive myoclonic 7

KCNC3

Spinocerebellar ataxia 13

Spinocerebellar Ataxia Type 13

KCNE1

Jervell and Lange-Nielsen syndrome 2

Long QT syndrome 5

Long QT Syndrome

Jervell and Lange-Nielsen Syndrome

KCNE2

Atrial fibrillation, familial

Long QT syndrome 6

Long QT Syndrome

KCNH1

Temple-Baraitser syndrome

Zimmermann-Laband syndrome 1

KCNH2

Long QT syndrome 2

Short QT syndrome 1

Long QT Syndrome

Brugada Syndrome

KCNJ1

Bartter syndrome, type 2

KCNJ10

Enlarged vestibular aqueduct, digenic

SESAME syndrome

Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct

KCNJ11

Diabetes mellitus, transient neonatal 3

Diabetes, permanent neonatal 2

Hyperinsulinemic hypoglycemia, familial

Maturity-onset diabetes of the young, type 13

Familial Hyperinsulinism

Permanent Neonatal Diabetes Mellitus

Maturity-Onset Diabetes of the Young Overview

KCNJ2

Andersen syndrome

Atrial fibrillation, familial

Short QT syndrome 3

Long QT Syndrome

Andersen-Tawil Syndrome

KCNJ6

Keppen-Lubinsky syndrome

KCNMA1

Cerebellar atrophy, developmental delay

Liang-Wang syndrome

Paroxysmal nonkinesigenic dyskinesia

KCNQ1

Atrial fibrillation, familial

Jervell and Lange-Nielsen syndrome

Long QT syndrome 1

Short QT syndrome 2

Long QT Syndrome

Beckwith-Wiedemann Syndrome

Jervell and Lange-Nielsen Syndrome

KCNQ2

Developmental and epileptic encephalopathy 7

Myokymia

Seizures, benign neonatal

KCNQ2-Related Disorders

KCNQ3

Seizures, benign neonatal

KCNQ3-Related Disorders

KCNQ4

Deafness, autosomal dominant 2A

DFNA2 Nonsyndromic Hearing Loss

Hereditary Hearing Loss and Deafness Overview

KCNQ5

Mental retardation, autosomal dominant 46

KCNT1

Developmental and epileptic encephalopathy 14

Epilepsy nocturnal frontal lobe

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

KCNT1-Related Epilepsy

KCTD1

Scalp-ear-nipple syndrome

KCTD7

Epilepsy, progressive myoclonic 3

KDM5C

Intellectual developmental disorder, X-linked syndromic

KDM6A

Kabuki syndrome 2

Kabuki Syndrome

KIAA0586

Joubert syndrome 23

Short-rib thoracic dysplasia 14 with polydactyly

Joubert Syndrome

KIAA1109

Alkuraya-Kucinskas syndrome

KIDINS220

Spastic paraplegia, intellectual disability

Ventriculomegaly and arthrogryposis

KIF11

Microcephaly with or without chorioretinopathy, lymphedema

KIF1A

NESCAV syndrome

Neuropathy, hereditary sensory

Spastic paraplegia 30, autosomal dominant

Spastic paraplegia 30, autosomal recessive

Hereditary Sensory and Autonomic Neuropathy Type II

KIF1C

Spastic ataxia 2, autosomal recessive

KIF21A

Fibrosis of extraocular muscles, congenital

Fibrosis of extraocular muscles, congenital

Congenital Fibrosis of the Extraocular Muscles Overview

KIF22

Spondyloepimetaphyseal dysplasia with joint laxity, type 2

KIF2A

Cortical dysplasia, complex

KIF5C

Cortical dysplasia, complex

KIF7

Acrocallosal syndrome

Joubert syndrome 12

Joubert Syndrome

KIFBP

Goldberg-Shprintzen megacolon syndrome

KIRREL3

KIT

Gastrointestinal stromal tumor, familial

Germ cell tumors, somatic

Leukemia, acute myeloid

Mastocytosis, cutaneous

Mastocytosis, systemic

Piebaldism

KLF1

Blood group--Lutheran inhibitor

Dyserythropoietic anemia, congenital

KLHL15

Intellectual developmental disorder, X-linked 103

KLHL40

Nemaline myopathy 8, autosomal recessive

KLHL41

Nemaline myopathy 9

KLHL7

PERCHING syndrome

Retinitis pigmentosa 42

Nonsyndromic Retinitis Pigmentosa Overview

KMT2A

Wiedemann-Steiner syndrome

KMT2B

Dystonia 28, childhood-onset

KMT2B-Related Dystonia

KMT2C

Kleefstra syndrome 2

KMT2D

Kabuki syndrome 1

Kabuki Syndrome

KMT2E

O'Donnell-Luria-Rodan syndrome

KMT5B

Mental retardation, autosomal dominant 51

KNL1

Microcephaly 4, primary

KPTN

Mental retardation, autosomal recessive 41

KRAS

Arteriovenous malformation of the brain, somatic

Bladder cancer, somatic

Breast cancer, somatic

Cardiofaciocutaneous syndrome 2

Gastric cancer, somatic

Leukemia, acute myeloid

Lung cancer, somatic

Noonan syndrome 3

Oculoectodermal syndrome, somatic

Pancreatic carcinoma, somatic

RAS-associated autoimmune leukoproliferative disorder

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic

Noonan Syndrome

Cardiofaciocutaneous Syndrome

Encephalocraniocutaneous Lipomatosis

KRIT1

Cavernous malformations of CNS and retina

Cerebral cavernous malformations-1

Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations

Cerebral Cavernous Malformation, Famiilial

KRT10

Epidermolytic hyperkeratosis

Ichthyosis with confetti

Ichthyosis, cyclic

KRT14

Dermatopathia pigmentosa reticularis

Epidermolysis bullosa simplex 1A, generalized severe

Epidermolysis bullosa simplex 1B, generalized intermediate

Epidermolysis bullosa simplex 1C, localized

Epidermolysis bullosa simplex 1D, generalized

Naegeli-Franceschetti-Jadassohn syndrome

Epidermolysis Bullosa Simplex

KRT16

Pachyonychia congenita 1

Palmoplantar keratoderma, nonepidermolytic

Pachyonychia Congenita

KRT17

Pachyonychia congenita 2

Steatocystoma multiplex

Pachyonychia Congenita

KRT5

Dowling-Degos disease 1

Epidermolysis bullosa simplex 2A, generalized severe

Epidermolysis bullosa simplex 2B, generalized intermediate

Epidermolysis bullosa simplex 2C, localized

Epidermolysis bullosa simplex 2D, generalized

Epidermolysis bullosa simplex 2E, with migratory circinate erythema

Epidermolysis bullosa simplex 2F, with mottled pigmentation

Epidermolysis Bullosa Simplex

KRT6A

Pachyonychia congenita 3

Pachyonychia Congenita

KRT8

Cirrhosis, cryptogenic

L1CAM

CRASH syndrome

Corpus callosum, partial agenesis of

Hydrocephalus due to aqueductal stenosis

Hydrocephalus with Hirschsprung disease

Hydrocephalus with congenital idiopathic intestinal pseudoobstruction

MASA syndrome

L1 Syndrome

L2HGDH

L-2-hydroxyglutaric aciduria

LAMA1

Poretti-Boltshauser syndrome

LAMA2

Muscular dystrophy, congenital

Muscular dystrophy, limb-girdle

LAMA2 Muscular Dystrophy

LAMA3

Cardiomyopathy, dilated

Epidermolysis bullosa, generalized atrophic benign

Epidermolysis bullosa, junctional

Laryngoonychocutaneous syndrome

Junctional Epidermolysis Bullosa

LAMB1

Lissencephaly 5

LAMB2

Nephrotic syndrome, type 5

Pierson syndrome

Congenital Myasthenic Syndromes Overview

LAMB3

Amelogenesis imperfecta, type IA

Epidermolysis bullosa, junctional

Epidermolysis bullosa, junctional

Junctional Epidermolysis Bullosa

LAMC2

Epidermolysis bullosa, junctional

Epidermolysis bullosa, junctional

Junctional Epidermolysis Bullosa

LAMC3

Cortical malformations, occipital

LAMP2

Danon disease

Danon Disease

LARGE

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B

LARGE1

LARP7

Alazami syndrome

LARS2

Hydrops, lactic acidosis

Perrault syndrome 4

Perrault Syndrome

LAS1L

Wilson-Turner syndrome

LBR

Greenberg skeletal dysplasia

Pelger-Huet anomaly with mild skeletal anomalies

Pelger-Huet anomaly

LDB3

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Left ventricular noncompaction 3

Myopathy, myofibrillar

Dilated Cardiomyopathy Overview

LDLR

Hypercholesterolemia, familial

LDL cholesterol level QTL2

Familial Hypercholesterolemia

LEMD3

Buschke-Ollendorff syndrome

Osteopoikilosis with or without melorheostosis

LEPR

Obesity, morbid

LETM1

LFNG

Spondylocostal dysostosis 3, autosomal recessive

Spondylocostal Dysostosis, Autosomal Recessive

LGI4

Arthrogryposis multiplex congenita 1, neurogenic

LHFPL5

Deafness, autosomal recessive 67

Hereditary Hearing Loss and Deafness Overview

LHX3

Pituitary hormone deficiency, combined

LHX4

Pituitary hormone deficiency, combined

LIAS

Hyperglycinemia, lactic acidosis

LIFR

Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome

LIG4

LIG4 syndrome

LINS1

Intellectual developmental disorder, autosomal recessive 27

LIPA

Cholesteryl ester storage disease

Wolman disease

Lysosomal Acid Lipase Deficiency

LIPT1

Lipoyltransferase 1 deficiency

LITAF

Charcot-Marie-Tooth disease, type 1C

Charcot-Marie-Tooth Hereditary Neuropathy Overview

LMBRD1

Methylmalonic aciduria and homocystinuria, cblF type

Disorders of Intracellular Cobalamin Metabolism

LMNA

Cardiomyopathy, dilated

Charcot-Marie-Tooth disease, type 2B1

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Heart-hand syndrome, Slovenian type

Hutchinson-Gilford progeria

Lipodystrophy, familial partial

Malouf syndrome

Mandibuloacral dysplasia

Muscular dystrophy, congenital

Restrictive dermopathy, lethal

Hutchinson-Gilford Progeria Syndrome

Dilated Cardiomyopathy Overview

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Emery-Dreifuss Muscular Dystrophy

LMNA-Related Dilated Cardiomyopathy

LMOD3

Nemaline myopathy 10

LMX1B

Focal segmental glomerulosclerosis 10

Nail-patella syndrome

Nail-Patella Syndrome

LONP1

CODAS syndrome

LOXHD1

Deafness, autosomal recessive 77

Hereditary Hearing Loss and Deafness Overview

LPIN2

Majeed syndrome

LRBA

Immunodeficiency, common variable

LRP2

Donnai-Barrow syndrome

Donnai-Barrow Syndrome

LRP4

Cenani-Lenz syndactyly syndrome

Sclerosteosis 2

Congenital Myasthenic Syndromes Overview

LRP5

Exudative vitreoretinopathy 4

Hyperostosis, endosteal

Osteopetrosis, autosomal dominant 1

Osteoporosis-pseudoglioma syndrome

Osteosclerosis

Polycystic liver disease 4 with or without kidney cysts

van Buchem disease, type 2

LRPPRC

Mitochondrial complex IV deficiency, nuclear type 5

LRRC56

Ciliary dyskinesia, primary

LRRC6

Ciliary dyskinesia, primary

LRSAM1

Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth Hereditary Neuropathy Overview

LRTOMT

Deafness, autosomal recessive 63

Hereditary Hearing Loss and Deafness Overview

LTBP2

Dental anomalies and short stature

Geleophysic dysplasia 3

Glaucoma 3, primary congenital

Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

Weill-Marchesani Syndrome

Primary Congenital Glaucoma

LTBP3

Dental anomalies and short stature

Geleophysic dysplasia 3

Glaucoma 3, primary congenital

Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

Geleophysic Dysplasia

LTBP4

Cutis laxa, autosomal recessive

LTBP4-Related Cutis Laxa

LYRM7

Mitochondrial complex III deficiency, nuclear type 8

LYST

Chediak-Higashi syndrome

Chediak-Higashi Syndrome

LZTFL1

Bardet-Biedl syndrome 17

Bardet-Biedl Syndrome Overview

LZTR1

Noonan syndrome 10

Noonan syndrome 2

Noonan Syndrome

Schwannomatosis

MAB21L2

Microphthalmia/coloboma and skeletal dysplasia syndrome

MACF1

Lissencephaly 9 with complex brainstem malformation

MAF

Ayme-Gripp syndrome

Cataract 21, multiple types

Ayme-Gripp Syndrome

MAFB

Duane retraction syndrome 3

Multicentric carpotarsal osteolysis syndrome

Duane Syndrome

MAG

Spastic paraplegia 75, autosomal recessive

MAGEL2

Schaaf-Yang syndrome

Prader-Willi Syndrome

Schaaf-Yang Syndrome

MAGI2

Nephrotic syndrome, type 15

MAGT1

Congenital disorder of glycosylation, type Icc

Immunodeficiency, X-linked

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

MALT1

Immunodeficiency 12

MAMLD1

Hypospadias 2, X-linked

MAN1B1

Rafiq syndrome

MAN2B1

Mannosidosis, alpha-

Alpha-Mannosidosis

MANBA

Mannosidosis, beta

MAOA

Brunner syndrome

MAP1B

Periventricular nodular heterotopia 9

MAP2K1

Cardiofaciocutaneous syndrome 3

Melorheostosis, isolated

Noonan Syndrome

Cardiofaciocutaneous Syndrome

Noonan Syndrome with Multiple Lentigines

MAP2K2

Cardiofaciocutaneous syndrome 4

Cardiofaciocutaneous Syndrome

MAP3K1

46XY sex reversal 6

Nonsyndromic Disorders of Testicular Development

MAP3K7

Cardiospondylocarpofacial syndrome

Frontometaphyseal dysplasia 2

MAPK8IP3

Neurodevelopmental disorder with or without variable brain abnormalities

MAPRE2

Symmetric circumferential skin creases, congenital

MARS1

Charcot-Marie-Tooth disease, axonal

Interstitial lung and liver disease

Charcot-Marie-Tooth Hereditary Neuropathy Overview

MARVELD2

Deafness, autosomal recessive 49

Hereditary Hearing Loss and Deafness Overview

MASP1

3MC syndrome 1

MAT1A

Hypermethioninemia, persistent

Methionine adenosyltransferase deficiency, autosomal recessive

MATN3

Epiphyseal dysplasia, multiple

Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type

Multiple Epiphyseal Dysplasia, Dominant

MAX

Hereditary Paraganglioma-Pheochromocytoma Syndromes

MBD5

Mental retardation, autosomal dominant 1

MBD5 Haploinsufficiency

MBOAT7

Intellectual developmental disorder, autosomal recessive 57

MBTPS2

IFAP syndrome with or without BRESHECK syndrome

Keratosis follicularis spinulosa decalvans, X-linked

Osteogenesis imperfecta, type XIX

MC2R

Glucocorticoid deficiency, due to ACTH unresponsiveness

MCCC1

3-Methylcrotonyl-CoA carboxylase 1 deficiency

MCCC2

3-Methylcrotonyl-CoA carboxylase 2 deficiency

MCEE

Methylmalonyl-CoA epimerase deficiency

Isolated Methylmalonic Acidemia

MCFD2

Factor V and factor VIII, combined deficiency of

MCOLN1

Mucolipidosis IV

Mucolipidosis IV

MCPH1

Microcephaly 1, primary

MDH2

Developmental and epileptic encephalopathy 51

MECOM

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

MECP2

Encephalopathy, neonatal severe

Intellectual developmental disorder, X-linked syndromic

Intellectual developmental disorder, X-linked

Rett syndrome

Rett syndrome, atypical

Rett syndrome, preserved speech variant

MECP2 Duplication Syndrome

MECP2 Disorders

MECR

Dystonia, childhood-onset

MECR-Related Neurologic Disorder

MED12

Hardikar syndrome

Lujan-Fryns syndrome

Ohdo syndrome, X-linked

Opitz-Kaveggia syndrome

MED12-Related Disorders

MED13

Intellectual developmental disorder 61

MED13L

Impaired intellectual development and distinctive facial features with or without cardiac defects

MED17

Microcephaly, postnatal progressive

MED23

Intellectual developmental disorder, autosomal recessive 18

MED25

Basel-Vanagait-Smirin-Yosef syndrome

Charcot-Marie-Tooth Hereditary Neuropathy Overview

MEF2C

Chromosome 5q14.3 deletion syndrome

Neurodevelopmental disorder with hypotonia, stereotypic hand movements

MEFV

Familial Mediterranean fever, AD

Familial Mediterranean fever, AR

Neutrophilic dermatosis, acute febrile

Familial Mediterranean Fever

MEGF10

Myopathy, areflexia

Myopathy, areflexia

MEGF8

Carpenter syndrome 2

MEIS2

Cleft palate, cardiac defects

MEN1

Adrenal adenoma, somatic (3)

Angiofibroma, somatic (3)

Carcinoid tumor of lung (3)

Lipoma, somatic (3)

Multiple endocrine neoplasia 1

Parathyroid adenoma, somatic (3)

Multiple Endocrine Neoplasia Type 1

MEOX1

Klippel-Feil syndrome 2

MESP2

Spondylocostal dysostosis 2, autosomal recessive

Spondylocostal Dysostosis, Autosomal Recessive

METTL5

Intellectual developmental disorder, autosomal recessive 72

MFN2

Charcot-Marie-Tooth disease, axonal

Charcot-Marie-Tooth disease, axonal

Hereditary motor and sensory neuropathy VIA

MFN2 Hereditary Motor and Sensory Neuropathy

MFRP

Microphthalmia, isolated 5

Nanophthalmos 2

MFSD2A

Neurodevelopmental disorder with progressive microcephaly, spasticity

MFSD8

Ceroid lipofuscinosis, neuronal

Macular dystrophy with central cone involvement

MGAT2

Congenital disorder of glycosylation, type IIa

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

MGME1

Mitochondrial DNA depletion syndrome 11

MGP

Keutel syndrome

MICU1

Myopathy with extrapyramidal signs

MID1

Opitz GBBB syndrome, type I

X-Linked Opitz G/BBB Syndrome

Esophageal Atresia/Tracheoesophageal Fistula Overview

MIPEP

Combined oxidative phosphorylation deficiency 31

MIR17HG

MITF

COMMAD syndrome

Tietz albinism-deafness syndrome

Waardenburg syndrome, type 2A

Waardenburg syndrome/ocular albinism, digenic

MKKS

Bardet-Biedl syndrome 6

McKusick-Kaufman syndrome

Bardet-Biedl Syndrome Overview

McKusick-Kaufman Syndrome

MKS1

Bardet-Biedl syndrome 13

Joubert syndrome 28

Meckel syndrome 1

Joubert Syndrome

Bardet-Biedl Syndrome Overview

MLC1

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic Leukoencephalopathy with Subcortical Cysts

MLH1

Colorectal cancer, hereditary nonpolyposis

Mismatch repair cancer syndrome 1

Muir-Torre syndrome

Lynch Syndrome

MLPH

Griscelli syndrome, type 3

MLYCD

Malonyl-CoA decarboxylase deficiency

MMAA

Methylmalonic aciduria, vitamin B12-responsive

Isolated Methylmalonic Acidemia

MMAB

Methylmalonic aciduria, vitamin B12-responsive

Isolated Methylmalonic Acidemia

MMACHC

Methylmalonic aciduria and homocystinuria, cblC type

Disorders of Intracellular Cobalamin Metabolism

MMADHC

Homocystinuria, cblD type

Methylmalonic aciduria and homocystinuria, cblD type

Methylmalonic aciduria, cblD type

Isolated Methylmalonic Acidemia

Disorders of Intracellular Cobalamin Metabolism

MMP13

Metaphyseal anadysplasia 1

Metaphyseal dysplasia, Spahr type

MMP21

Heterotaxy, visceral

MMUT

Methylmalonic aciduria, mut(0) type

Isolated Methylmalonic Acidemia

MN1

CEBALID syndrome

Meningioma

MN1 C-Terminal Truncation Syndrome

MNX1

Currarino syndrome

MOCS1

Molybdenum cofactor deficiency A

Molybdenum Cofactor Deficiency

MOCS2

Molybdenum cofactor deficiency B

Molybdenum Cofactor Deficiency

MOGS

Congenital disorder of glycosylation, type IIb

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

MORC2

Charcot-Marie-Tooth disease, axonal

Developmental delay, impaired growth

Charcot-Marie-Tooth Hereditary Neuropathy Overview

MPDU1

Congenital disorder of glycosylation, type If

MPDZ

Hydrocephalus, congenital

MPI

Congenital disorder of glycosylation, type Ib

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

MPL

Myelofibrosis with myeloid metaplasia, somatic

Thrombocythemia 2

Thrombocytopenia, congenital amegakaryocytic

MPLKIP

Trichothiodystrophy 4, nonphotosensitive

MPV17

Charcot-Marie-Tooth disease, axonal

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Charcot-Marie-Tooth Hereditary Neuropathy Overview

MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect

MPZ

Charcot-Marie-Tooth disease, dominant intermediate D

Charcot-Marie-Tooth disease, type 1B

Charcot-Marie-Tooth disease, type 2I

Charcot-Marie-Tooth disease, type 2J

Dejerine-Sottas disease

Hypomyelinating neuropathy, congenital

Roussy-Levy syndrome

MRPL3

Combined oxidative phosphorylation deficiency 9

MRPL44

Combined oxidative phosphorylation deficiency 16

MRPS2

Combined oxidative phosphorylation deficiency 36

MRPS22

Combined oxidative phosphorylation deficiency 5

Ovarian dysgenesis 7

MRPS34

Combined oxidative phosphorylation deficiency 32

MSH2

Colorectal cancer, hereditary nonpolyposis

Mismatch repair cancer syndrome 2

Muir-Torre syndrome

Lynch Syndrome

MSH6

Colorectal cancer, hereditary nonpolyposis

Mismatch repair cancer syndrome 3

Lynch Syndrome

MSL3

Basilicata-Akhtar syndrome

MSMO1

Microcephaly, congenital cataract

MSX1

Ectodermal dysplasia 3, Witkop type

Orofacial cleft 5

Tooth agenesis, selective

MSX2

Craniosynostosis 2

Parietal foramina 1

Parietal foramina with cleidocranial dysplasia

Enlarged Parietal Foramina

MTFMT

Combined oxidative phosphorylation deficiency 15

Mitochondrial complex I deficiency, nuclear type 27

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

MTHFR

Homocystinuria due to MTHFR deficiency

MTM1

Myotubular myopathy, X-linked

X-Linked Myotubular Myopathy

MTO1

Combined oxidative phosphorylation deficiency 10

MTOR

Focal cortical dysplasia, type II

Smith-Kingsmore syndrome

MTR

Homocystinuria-megaloblastic anemia, cblG complementation type

Disorders of Intracellular Cobalamin Metabolism

MTRR

Homocystinuria-megaloblastic anemia, cbl E type

Disorders of Intracellular Cobalamin Metabolism

MTTP

Abetalipoproteinemia

Abetalipoproteinemia

MUSK

Fetal akinesia deformation sequence 1

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

MUT

Methylmalonic aciduria, mut(0) type

MUTYH

Adenomas, multiple colorectal

Gastric cancer, somatic

MUTYH Polyposis

MVK

Hyper-IgD syndrome

Mevalonic aciduria

Porokeratosis 3, multiple types

MYBPC1

Arthrogryposis, distal

Lethal congenital contracture syndrome 4

Myopathy, congenital

MYBPC3

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Left ventricular noncompaction 10

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

MYCN

Feingold syndrome 1

Esophageal Atresia/Tracheoesophageal Fistula Overview

Feingold Syndrome 1

MYD88

Immunodeficiency 68

Macroglobulinemia, Waldenstrom

MYH11

Aortic aneurysm, familial thoracic 4

Megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Visceral myopathy 2

Heritable Thoracic Aortic Disease Overview

MYH14

Deafness, autosomal dominant 4A

Hereditary Hearing Loss and Deafness Overview

MYH2

Proximal myopathy and ophthalmoplegia

MYH3

Arthrogryposis, distal

Arthrogryposis, distal

Contractures, pterygia

Contractures, pterygia

MYH6

Atrial septal defect 3

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

MYH7

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Laing distal myopathy

Left ventricular noncompaction 5

Myopathy, myosin storage

Myopathy, myosin storage

Scapuloperoneal syndrome, myopathic type

Laing Distal Myopathy

Hypertrophic Cardiomyopathy Overview

MYH8

Carney complex variant

Trismus-pseudocamptodactyly syndrome

MYH9

Deafness, autosomal dominant 17

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Hereditary Hearing Loss and Deafness Overview

MYH9-Related Disease

MYL2

Cardiomyopathy, hypertrophic

Myopathy, myofibrillar

Hypertrophic Cardiomyopathy Overview

MYL3

Cardiomyopathy, hypertrophic

Hypertrophic Cardiomyopathy Overview

MYLK

Aortic aneurysm, familial thoracic 7

Megacystis-microcolon-intestinal hypoperistalsis syndrome 1

Heritable Thoracic Aortic Disease Overview

MYO15A

Deafness, autosomal recessive 3

Hereditary Hearing Loss and Deafness Overview

MYO18B

Klippel-Feil syndrome 4, autosomal recessive

MYO3A

Deafness, autosomal recessive 30

Hereditary Hearing Loss and Deafness Overview

MYO5A

Griscelli syndrome, type 1

MYO5B

Diarrhea 2, with microvillus atrophy

MYO6

Deafness, autosomal dominant 22

Deafness, autosomal dominant 22

Deafness, autosomal recessive 37

Hereditary Hearing Loss and Deafness Overview

MYO7A

Deafness, autosomal dominant 11

Deafness, autosomal recessive 2

Usher syndrome, type 1B

Usher Syndrome Type I

Hereditary Hearing Loss and Deafness Overview

MYOD1

Myopathy, congenital

MYPN

Cardiomyopathy, dilated

Cardiomyopathy, familial restrictive

Cardiomyopathy, hypertrophic

Nemaline myopathy 11, autosomal recessive

MYT1L

Intellectual developmental disorder, autosomal dominant 39

NAA10

Microphthalmia, syndromic 1

Ogden syndrome

NAA15

Intellectual developmental disorder, autosomal dominant 50

NACC1

Neurodevelopmental disorder with epilepsy, cataracts

NADSYN1

Vertebral, cardiac

NAGA

Kanzaki disease

Schindler disease, type I

Schindler disease, type III

NAGLU

Mucopolysaccharidosis type IIIB (Sanfilippo B)

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Mucopolysaccharidosis Type III

NAGS

N-acetylglutamate synthase deficiency

Urea Cycle Disorders Overview

NALCN

Congenital contractures of the limbs and face, hypotonia

Hypotonia, infantile

NANS

Spondyloepimetaphyseal dysplasia, Camera-Genevieve type

NARS1

Neurodevelopmental disorder with microcephaly, impaired language

Neurodevelopmental disorder with microcephaly, impaired language

NARS2

Combined oxidative phosphorylation deficiency 24

NAXD

Encephalopathy, progressive

NAXE

Encephalopathy, progressive

NBAS

Infantile liver failure syndrome 2

Short stature, optic nerve atrophy

NBEA

Neurodevelopmental disorder with or without early-onset generalized epilepsy

NBN

Aplastic anemia

Leukemia, acute lymphoblastic

Nijmegen breakage syndrome

Nijmegen Breakage Syndrome

NCAPD3

Microcephaly 22, primary

NCF1

Chronic granulomatous disease 1, autosomal recessive

Williams Syndrome

Chronic Granulomatous Disease

NCF2

Chronic granulomatous disease 2, autosomal recessive

Chronic Granulomatous Disease

NCKAP1L

Immunodeficiency 72 with autoinflammation

NDE1

Lissencephaly 4 (with microcephaly)

NDN

Prader-Willi syndrome

Prader-Willi Syndrome

NDP

Exudative vitreoretinopathy 2, X-linked

Norrie disease

NDST1

Mental retardation, autosomal recessive 46

NDUFA1

Mitochondrial complex I deficiency, nuclear type 12

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFA10

Mitochondrial complex I deficiency, nuclear type 22

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFA11

Mitochondrial complex I deficiency, nuclear type 14

NDUFA12

Mitochondrial complex I deficiency, nuclear type 23

NDUFA13

NDUFA2

Mitochondrial complex I deficiency, nuclear type 13

NDUFA6

Mitochondrial complex I deficiency, nuclear type 33

NDUFA9

Mitochondrial complex I deficiency, nuclear type 26

NDUFAF1

Mitochondrial complex I deficiency, nuclear type 11

NDUFAF2

Mitochondrial complex I deficiency, nuclear type 10

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFAF3

Mitochondrial complex I deficiency, nuclear type 18

NDUFAF4

Mitochondrial complex I deficiency, nuclear type 15

NDUFAF5

Mitochondrial complex I deficiency, nuclear type 16

NDUFAF6

Fanconi renotubular syndrome 5

Mitochondrial complex I deficiency, nuclear type 17

NDUFAF8

Mitochondrial complex I deficiency, nuclear type 34

NDUFB3

Mitochondrial complex I deficiency, nuclear type 25

NDUFB8

Mitochondrial complex I deficiency, nuclear type 32

NDUFS1

Mitochondrial complex I deficiency, nuclear type 5

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFS2

Mitochondrial complex I deficiency, nuclear type 6

NDUFS3

Mitochondrial complex I deficiency, nuclear type 8

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFS4

Mitochondrial complex I deficiency, nuclear type 1

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFS6

Mitochondrial complex I deficiency, nuclear type 9

NDUFS7

Mitochondrial complex I deficiency, nuclear type 3

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFS8

Mitochondrial complex I deficiency, nuclear type 2

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFV1

Mitochondrial complex I deficiency, nuclear type 4

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

NDUFV2

Mitochondrial complex I deficiency, nuclear type 7

NEB

Arthrogryposis multiplex congenita 6

Nemaline myopathy 2, autosomal recessive

NECAP1

Developmental and epileptic encephalopathy 21

NECTIN1

Cleft lip/palate-ectodermal dysplasia syndrome

Orofacial cleft 7

NECTIN4

NEDD4L

Periventricular nodular heterotopia 7

NEFL

Charcot-Marie-Tooth disease, dominant intermediate G

Charcot-Marie-Tooth disease, type 1F

Charcot-Marie-Tooth disease, type 2E

Charcot-Marie-Tooth Hereditary Neuropathy Overview

NEK8

Renal-hepatic-pancreatic dysplasia 2

Nephronophthisis

NEMF

Intellectual developmental disorder with speech delay and axonal peripheral neuropathy

NEU1

Sialidosis, type I

Sialidosis, type II

NEUROG3

Diarrhea 4, malabsorptive

NEXMIF

Intellectual developmental disorder, X-linked 98

NF1

Leukemia, juvenile myelomonocytic

Neurofibromatosis, familial spinal

Neurofibromatosis, type 1

Neurofibromatosis-Noonan syndrome

Watson syndrome

Neurofibromatosis 1

Wilms Tumor Predisposition

NF2

Meningioma, NF2-related

Neurofibromatosis, type 2

Schwannomatosis, somatic

Neurofibromatosis 2

NFASC

Neurodevelopmental disorder with central and peripheral motor dysfunction

NFIA

Brain malformations with or without urinary tract defects

NFIA-Related Disorder

NFIB

Macrocephaly, acquired

NFIX

Malan syndrome

Marshall-Smith syndrome

NFKBIA

Ectodermal dysplasia and immunodeficiency 2

NFU1

Multiple mitochondrial dysfunctions syndrome 1

NGF

Neuropathy, hereditary sensory and autonomic

Congenital Insensitivity to Pain Overview

NGLY1

Congenital disorder of deglycosylation

NGLY1-Related Congenital Disorder of Deglycosylation

NHEJ1

Severe combined immunodeficiency with microcephaly, growth retardation

NHLRC1

Epilepsy, progressive myoclonic 2B (Lafora)

Progressive Myoclonus Epilepsy, Lafora Type

NHP2

Dyskeratosis congenita, autosomal recessive 2

Dyskeratosis Congenita

NHS

Cataract 40, X-linked

Nance-Horan syndrome

NIPAL4

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

NIPBL

Cornelia de Lange syndrome 1

Cornelia de Lange Syndrome

NKX2-1

Chorea, hereditary benign

Choreoathetosis, hypothyroidism

NKX2-1-Related Disorders

NKX2-5

Atrial septal defect 7, with or without AV conduction defects

Conotruncal heart malformations, variable

Hypoplastic left heart syndrome 2

Hypothyroidism, congenital nongoitrous

Tetralogy of Fallot

Ventricular septal defect 3

NKX2-6

Conotruncal heart malformations

Persistent truncus arteriosus

NKX3-2

Spondylo-megaepiphyseal-metaphyseal dysplasia

NKX6-2

Spastic ataxia 8, autosomal recessive

NKX6-2-Related Disorder

NLRC4

Autoinflammation with infantile enterocolitis

NLRP3

CINCA syndrome

Deafness, autosomal dominant 34

Familial cold inflammatory syndrome 1

Keratoendothelitis fugax hereditaria

Muckle-Wells syndrome

NMNAT1

Leber congenital amaurosis 9

Spondyloepiphyseal dysplasia, sensorineural hearing loss

NNT

Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency

NODAL

Heterotaxy, visceral

Holoprosencephaly Overview

NOG

Brachydactyly, type B2

Multiple synostoses syndrome 1

Stapes ankylosis with broad thumbs and toes

Symphalangism, proximal

Tarsal-carpal coalition syndrome

NONO

Intellectual developmental disorder, X-linked syndromic 34

NOTCH1

Adams-Oliver syndrome 5

Aortic valve disease 1

Adams-Oliver Syndrome

NOTCH2

Alagille syndrome 2

Hajdu-Cheney syndrome

Alagille Syndrome

NOTCH3

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1

Lateral meningocele syndrome

CADASIL

Lateral Meningocele Syndrome

NOVA2

Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

NPC1

Niemann-Pick disease, type C1

Niemann-Pick disease, type D

Niemann-Pick Disease Type C

NPC2

Niemann-pick disease, type C2

Niemann-Pick Disease Type C

NPHP1

Joubert syndrome 4

Nephronophthisis 1, juvenile

Senior-Loken syndrome-1

Joubert Syndrome

Nephronophthisis

NPHP3

Meckel syndrome 7

Nephronophthisis 3

Renal-hepatic-pancreatic dysplasia 1

Nephronophthisis

NPHP4

Nephronophthisis 4

Senior-Loken syndrome 4

Nephronophthisis

NPHS1

Nephrotic syndrome, type 1

NPHS2

Nephrotic syndrome, type 2

NPR2

Acromesomelic dysplasia 1, Maroteaux type

Epiphyseal chondrodysplasia, Miura type

Short stature with nonspecific skeletal abnormalities

NR0B1

46XY sex reversal 2, dosage-sensitive

Adrenal hypoplasia, congenital

NR0B1-Related Adrenal Hypoplasia Congenita

NR1H4

Cholestasis, progressive familial intrahepatic

NR2F1

Bosch-Boonstra-Schaaf optic atrophy syndrome

NR2F2

46,XX sex reversal 5

Congenital heart defects, multiple types

NR3C2

Hypertension, early-onset

Pseudohypoaldosteronism type I, autosomal dominant

NR5A1

46, XX sex reversal 4

46XY sex reversal 3

Adrenocortical insufficiency

Premature ovarian failure 7

Spermatogenic failure 8

Nonsyndromic Disorders of Testicular Development

NRXN1

Pitt-Hopkins-like syndrome 2

NSD1

Sotos syndrome

Wilms Tumor Predisposition

Sotos Syndrome

NSDHL

CHILD syndrome

CK syndrome

NSDHL-Related Disorders

NSUN2

Mental retardation, autosomal recessive 5

NT5C2

Spastic paraplegia 45, autosomal recessive

NT5C3A

Anemia, hemolytic

NTNG2

Neurodevelopmental disorder with behavioral abnormalities, absent speech

NTRK1

Insensitivity to pain, congenital

NTRK1 Congenital Insensitivity to Pain with Anhidrosis

Congenital Insensitivity to Pain Overview

NTRK2

Developmental and epileptic encephalopathy 58

Obesity, hyperphagia

NUBPL

Mitochondrial complex I deficiency, nuclear type 21

NUP107

Galloway-Mowat syndrome 7

Nephrotic syndrome, type 11

NUP188

Sandestig-Stefanova syndrome

NYX

Night blindness, congenital stationary (complete)

X-Linked Congenital Stationary Night Blindness

OBSL1

3-M syndrome 2

Three M Syndrome

OCA2

Albinism, brown oculocutaneous

Albinism, oculocutaneous

Prader-Willi Syndrome

OCLN

Pseudo-TORCH syndrome 1

OCRL

Dent disease 2

Lowe syndrome

Lowe Syndrome

Dent Disease

ODAPH

Amelogenesis imperfecta, type IIA4

OFD1

Joubert syndrome 10

Orofaciodigital syndrome I

Simpson-Golabi-Behmel syndrome, type 2

Oral-Facial-Digital Syndrome Type I

Joubert Syndrome

OGDH

OPA1

Behr syndrome

Optic atrophy 1

Optic atrophy plus syndrome

Optic Atrophy Type 1

OPA3

3-methylglutaconic aciduria, type III

Optic atrophy 3 with cataract

Costeff Syndrome

OPHN1

Intellectual developmental disorder, X-linked syndromic

ORC1

Meier-Gorlin syndrome 1

ORC4

Meier-Gorlin syndrome 2

ORC6

Meier-Gorlin syndrome 3

OSGEP

Galloway-Mowat syndrome 3

OSMR

Amyloidosis, primary localized cutaneous

OSTM1

Osteopetrosis, autosomal recessive 5

OTC

Ornithine transcarbamylase deficiency

Urea Cycle Disorders Overview

Ornithine Transcarbamylase Deficiency

OTOA

Deafness, autosomal recessive 22

Hereditary Hearing Loss and Deafness Overview

OTOF

Auditory neuropathy, autosomal recessive

Deafness, autosomal recessive 9

OTOF-Related Deafness

Hereditary Hearing Loss and Deafness Overview

OTOGL

Deafness, autosomal recessive 84B

OTUD5

Multiple congenital anomalies-neurodevelopmental syndrome, X-linked

OTUD6B

Intellectual developmental disorder with dysmorphic facies, seizures

OTULIN

Autoinflammation, panniculitis

OTX2

Microphthalmia, syndromic 5

Pituitary hormone deficiency, combined

Retinal dystrophy, early-onset

OXCT1

Succinyl CoA:3-oxoacid CoA transferase deficiency

OXR1

Cerebellar hypoplasia/atrophy, epilepsy

P3H1

Osteogenesis imperfecta, type VIII

P4HB

Cole-Carpenter syndrome 1

PACS1

Schuurs-Hoeijmakers syndrome

PACS1 Neurodevelopmental Disorder

PACS2

Developmental and epileptic encephalopathy 66

PAFAH1B1

Lissencephaly 1

Subcortical laminar heterotopia

PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia

PAH

Phenylketonuria

Phenylalanine Hydroxylase Deficiency

PAK3

Intellectual developmental disorder, X-linked 30

PALB2

Fanconi anemia, complementation group N

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

PAM16

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type

PANK2

HARP syndrome

Neurodegeneration with brain iron accumulation 1

Pantothenate Kinase-Associated Neurodegeneration

PAPSS2

Brachyolmia 4 with mild epiphyseal and metaphyseal changes

PARN

Dyskeratosis congenita, autosomal recessive 6

Pulmonary fibrosis and/or bone marrow failure, telomere-related

Dyskeratosis Congenita

PARS2

Developmental and epileptic encephalopathy 75

PAX2

Glomerulosclerosis, focal segmental

Papillorenal syndrome

PAX2-Related Disorder

PAX3

Craniofacial-deafness-hand syndrome

Rhabdomyosarcoma 2, alveolar

Waardenburg syndrome, type 1

Waardenburg syndrome, type 3

Waardenburg Syndrome Type I

PAX6

Aniridia

Anterior segment dysgenesis 5, multiple subtypes

Cataract with late-onset corneal dystrophy

Foveal hypoplasia 1

Keratitis

Optic nerve hypoplasia

PAX6-Related Aniridia

PAX8

Hypothyroidism, congenital

PC

Pyruvate carboxylase deficiency

Thrombophilia 3 due to protein C deficiency, autosomal dominant

Thrombophilia 3 due to protein C deficiency, autosomal recessive

Pyruvate Carboxylase Deficiency

PCARE

Retinitis pigmentosa 54

Nonsyndromic Retinitis Pigmentosa Overview

PCBD1

Hyperphenylalaninemia, BH4-deficient

PCCA

Propionicacidemia

Propionic Acidemia

PCCB

Propionicacidemia

Propionic Acidemia

PCDH15

Deafness, autosomal recessive 23

Usher syndrome, type 1D/F digenic

Usher syndrome, type 1F

Usher Syndrome Type I

Hereditary Hearing Loss and Deafness Overview

PCDH19

Developmental and epileptic encephalopathy 9

PCGF2

Turnpenny-Fry syndrome

PCK1

PCNT

Microcephalic osteodysplastic primordial dwarfism, type II

Nephrotic syndrome, type 17

Microcephalic Osteodysplastic Primordial Dwarfism Type II

PCSK9

Hypercholesterolemia, familial

Familial Hypercholesterolemia

PCYT1A

Spondylometaphyseal dysplasia with cone-rod dystrophy

PCYT2

Spastic paraplegia 82, autosomal recessive

PDCD10

Cerebral cavernous malformations-3

Cerebral Cavernous Malformation, Famiilial

PDE10A

Dyskinesia, limb and orofacial

Striatal degeneration, autosomal dominant

PDE4D

Acrodysostosis 2, with or without hormone resistance

PDE6D

Joubert syndrome 22

Joubert Syndrome

PDE6G

Retinitis pigmentosa 57

Nonsyndromic Retinitis Pigmentosa Overview

PDGFRB

Basal ganglia calcification, idiopathic

Kosaki overgrowth syndrome

Myeloproliferative disorder with eosinophilia

Myofibromatosis, infantile

Premature aging syndrome, Penttinen type

Primary Familial Brain Calcification

PDHA1

Pyruvate dehydrogenase E1-alpha deficiency

Primary Pyruvate Dehydrogenase Complex Deficiency Overview

PDHB

Pyruvate dehydrogenase E1-beta deficiency

Primary Pyruvate Dehydrogenase Complex Deficiency Overview

PDHX

Lacticacidemia due to PDX1 deficiency

Primary Pyruvate Dehydrogenase Complex Deficiency Overview

PDP1

Pyruvate dehydrogenase phosphatase deficiency

PDSS2

Coenzyme Q10 deficiency, primary

Primary Coenzyme Q10 Deficiency

PDX1

Lacticacidemia due to PDX1 deficiency

MODY, type IV

Pancreatic agenesis 1

Permanent Neonatal Diabetes Mellitus

Maturity-Onset Diabetes of the Young Overview

PEPD

Prolidase deficiency

Prolidase Deficiency

PERCC1

Diarrhea 11, malabsorptive

PET100

Mitochondrial complex IV deficiency, nuclear type 12

PEX1

Heimler syndrome 1

Peroxisome biogenesis disorder 1A (Zellweger)

Peroxisome biogenesis disorder 1B (NALD/IRD)

Zellweger Spectrum Disorder

PEX10

Peroxisome biogenesis disorder 6A (Zellweger)

Peroxisome biogenesis disorder 6B

Zellweger Spectrum Disorder

PEX11B

Peroxisome biogenesis disorder 14B

Zellweger Spectrum Disorder

PEX12

Peroxisome biogenesis disorder 3A (Zellweger)

Peroxisome biogenesis disorder 3B

Zellweger Spectrum Disorder

PEX13

Peroxisome biogenesis disorder 11A (Zellweger)

Peroxisome biogenesis disorder 11B

Zellweger Spectrum Disorder

PEX14

Peroxisome biogenesis disorder 13A (Zellweger)

Zellweger Spectrum Disorder

PEX16

Peroxisome biogenesis disorder 8A (Zellweger)

Peroxisome biogenesis disorder 8B

Zellweger Spectrum Disorder

PEX19

Peroxisome biogenesis disorder 12A (Zellweger)

Zellweger Spectrum Disorder

PEX2

Peroxisome biogenesis disorder 5A (Zellweger)

Peroxisome biogenesis disorder 5B

Zellweger Spectrum Disorder

PEX26

Peroxisome biogenesis disorder 7A (Zellweger)

Peroxisome biogenesis disorder 7B

Zellweger Spectrum Disorder

PEX3

Peroxisome biogenesis disorder 10A (Zellweger)

Zellweger Spectrum Disorder

PEX5

Peroxisome biogenesis disorder 2A (Zellweger)

Peroxisome biogenesis disorder 2B

Rhizomelic chondrodysplasia punctata, type 5

Zellweger Spectrum Disorder

PEX6

Heimler syndrome 2

Peroxisome biogenesis disorder 4A (Zellweger)

Peroxisome biogenesis disorder 4B

Zellweger Spectrum Disorder

PEX7

Peroxisome biogenesis disorder 9B

Rhizomelic chondrodysplasia punctata, type 1

Rhizomelic Chondrodysplasia Punctata Type 1

Adult Refsum Disease

PFKM

Glycogen storage disease VII

PGAP1

Neurodevelopmental disorder with dysmorphic features, spasticity

PGAP2

Hyperphosphatasia with mental retardation syndrome 3

PGAP3

Hyperphosphatasia with mental retardation syndrome 4

PGK1

Phosphoglycerate kinase 1 deficiency

PGM1

Congenital disorder of glycosylation, type It

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

PGM3

Immunodeficiency 23

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

PHACTR1

Developmental and epileptic encephalopathy 70

PHEX

Hypophosphatemic rickets, X-linked dominant

X-Linked Hypophosphatemia

PHF21A

Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

PHF6

Borjeson-Forssman-Lehmann syndrome

PHF8

Intellectual developmental disorder, X-linked

PHGDH

Neu-Laxova syndrome 1

Phosphoglycerate dehydrogenase deficiency

PHIP

Chung-Jansen syndrome

PHKA2

Glycogen storage disease, type IXa1

Glycogen storage disease, type IXa2

Phosphorylase Kinase Deficiency

PHKB

Phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Phosphorylase Kinase Deficiency

PHKG2

Glycogen storage disease IXc

Phosphorylase Kinase Deficiency

PHOX2B

Central hypoventilation syndrome, congenital

Neuroblastoma with Hirschsprung disease

Congenital Central Hypoventilation Syndrome

PHYH

Refsum disease

Adult Refsum Disease

PIEZO1

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Lymphatic malformation 6

PIEZO2

Arthrogryposis, distal

Arthrogryposis, distal

Arthrogryposis, distal

PIGA

Multiple congenital anomalies-hypotonia-seizures syndrome 2

Paroxysmal nocturnal hemoglobinuria, somatic

PIGG

Intellectual developmental disorder, autosomal recessive 53

PIGK

Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

PIGL

CHIME syndrome

PIGN

Multiple congenital anomalies-hypotonia-seizures syndrome 1

Fryns Syndrome

PIGO

Hyperphosphatasia with mental retardation syndrome 2

PIGQ

Multiple congenital anomalies-hypotonia-seizures syndrome 4

PIGS

Developmental and epileptic encephalopathy 95

PIGT

Multiple congenital anomalies-hypotonia-seizures syndrome 3

PIGV

Hyperphosphatasia with mental retardation syndrome 1

PIGY

Hyperphosphatasia with mental retardation syndrome 6

PIK3CD

Immunodeficiency 14A, autosomal dominant

Immunodeficiency 14B, autosomal recessive

PIK3R1

Immunodeficiency 36

SHORT syndrome

SHORT Syndrome

PIK3R2

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

MPPH Syndrome

PINK1

Parkinson disease 6, early onset

Parkinson Disease Overview

PINK1 Type of Young-Onset Parkinson Disease

PISD

Liberfarb syndrome

PITX1

Clubfoot, congenital

Liebenberg syndrome

PITX2

Anterior segment dysgenesis 4

Axenfeld-Rieger syndrome, type 1

Ring dermoid of cornea

PITX3

Anterior segment dysgenesis 1, multiple subtypes

Cataract 11, multiple types

Cataract 11, syndromic

PKD1

Polycystic kidney disease 1

Polycystic Kidney Disease, Autosomal Dominant

PKD1L1

Heterotaxy, visceral

PKD2

Polycystic kidney disease 2

Polycystic Kidney Disease, Autosomal Dominant

PKHD1

Polycystic kidney disease 4, with or without hepatic disease

Polycystic Kidney Disease, Autosomal Recessive

PKLR

Adenosine triphosphate, elevated

Pyruvate kinase deficiency

PKP2

Arrhythmogenic right ventricular dysplasia 9

Arrhythmogenic Right Ventricular Cardiomyopathy

Brugada Syndrome

PLA2G6

Infantile neuroaxonal dystrophy 1

Neurodegeneration with brain iron accumulation 2B

Parkinson disease 14, autosomal recessive

PLA2G6-Associated Neurodegeneration

Neurodegeneration with Brain Iron Accumulation Disorders Overview

PLAA

Neurodevelopmental disorder with progressive microcephaly, spasticity

PLCB1

Developmental and epileptic encephalopathy 12

PLCB4

Auriculocondylar syndrome 2

PLCE1

Nephrotic syndrome, type 3

PLCG2

Autoinflammation, antibody deficiency

Familial cold autoinflammatory syndrome 3

PLEC

Epidermolysis bullosa simplex 5A, Ogna type

Epidermolysis bullosa simplex 5B, with muscular dystrophy

Epidermolysis bullosa simplex 5C, with pyloric atresia

Muscular dystrophy, limb-girdle

Epidermolysis Bullosa with Pyloric Atresia

PLEKHG5

Charcot-Marie-Tooth disease, recessive intermediate C

Spinal muscular atrophy, distal

Charcot-Marie-Tooth Hereditary Neuropathy Overview

PLG

Angioedema, hereditary

Dysplasminogenemia

Plasminogen deficiency, type I

PLK4

Microcephaly and chorioretinopathy, autosomal recessive

PLN

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

PLOD1

Ehlers-Danlos syndrome, kyphoscoliotic type

PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

PLOD2

Bruck syndrome 2

PLOD3

Lysyl hydroxylase 3 deficiency

PLP1

Pelizaeus-Merzbacher disease

Spastic paraplegia 2, X-linked

PLP1 Disorders

PLPBP

Epilepsy, early-onset

PLS3

Bone mineral density QTL18, osteoporosis

PMM2

Congenital disorder of glycosylation, type Ia

PMM2-CDG

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

PMP22

Charcot-Marie-Tooth disease, type 1A

Charcot-Marie-Tooth disease, type 1E

Dejerine-Sottas disease

Neuropathy, recurrent

Roussy-Levy syndrome

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Hereditary Neuropathy with Liability to Pressure Palsies

PMPCB

Multiple mitochondrial dysfunctions syndrome 6

PMS2

Colorectal cancer, hereditary nonpolyposis

Mismatch repair cancer syndrome 4

Lynch Syndrome

PNKD

Paroxysmal nonkinesigenic dyskinesia 1

Familial Paroxysmal Nonkinesigenic Dyskinesia

PNKP

Ataxia-oculomotor apraxia 4

Microcephaly, seizures

PNP

Immunodeficiency due to purine nucleoside phosphorylase deficiency

PNPLA1

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

PNPLA8

PNPO

Pyridoxamine 5'-phosphate oxidase deficiency

PNPT1

Combined oxidative phosphorylation deficiency 13

Deafness, autosomal recessive 70

POC1A

Short stature, onychodysplasia

POC1B

Cone-rod dystrophy 20

Joubert Syndrome

POGZ

White-Sutton syndrome

White-Sutton Syndrome

POLA1

Pigmentary disorder, reticulate

Van Esch-O'Driscoll syndrome

POLG

Mitochondrial DNA depletion syndrome 4A (Alpers type)

Mitochondrial DNA depletion syndrome 4B (MNGIE type)

Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

Progressive external ophthalmoplegia, autosomal dominant 1

Progressive external ophthalmoplegia, autosomal recessive 1

POLG-Related Disorders

POLG2

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

POLH

Xeroderma pigmentosum, variant type

Xeroderma Pigmentosum

POLR1A

Acrofacial dysostosis, Cincinnati type

POLR1B

Treacher-Collins syndrome 4

Treacher Collins Syndrome

POLR1C

Leukodystrophy, hypomyelinating

Treacher Collins syndrome 3

Treacher Collins Syndrome

POLR3-Related Leukodystrophy

POLR1D

Treacher Collins syndrome 2

Treacher Collins Syndrome

POLR3A

Leukodystrophy, hypomyelinating

Wiedemann-Rautenstrauch syndrome

POLR3-Related Leukodystrophy

POLR3B

Charcot-Marie-Tooth disease, demyelinating

Leukodystrophy, hypomyelinating

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

POLR3-Related Leukodystrophy

POMGNT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

Retinitis pigmentosa 76

POMGNT2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A

Muscular dystrophy-dystroglycanopathy (limb-girdle) type C

POMK

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

POMP

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma

Proteasome-associated autoinflammatory syndrome 2

POMT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

POMT2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C

POR

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Disordered steroidogenesis due to cytochrome P450 oxidoreductase

Cytochrome P450 Oxidoreductase Deficiency

PORCN

Focal dermal hypoplasia

Focal Dermal Hypoplasia

POU1F1

Pituitary hormone deficiency, combined or isolated

POU3F4

Deafness, X-linked 2

Hereditary Hearing Loss and Deafness Overview

POU4F3

Deafness, autosomal dominant 15

Hereditary Hearing Loss and Deafness Overview

PPA2

Sudden cardiac failure, infantile

PPIB

Osteogenesis imperfecta, type IX

PPP1CB

Noonan syndrome-like disorder with loose anagen hair 2

PPP1R12A

Genitourinary and/or/brain malformation syndrome

PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

PPP1R15B

Microcephaly, short stature

PPP2CA

Neurodevelopmental disorder and language delay with or without structural brain abnormalities

PPP2R1A

Mental retardation, autosomal dominant 36

PPP2R5D

Mental retardation, autosomal dominant 35

PPP2R5D-Related Neurodevelopmental Disorder

PPP3CA

Arthrogryposis, cleft palate

Developmental and epileptic encephalopathy 91

PPT1

Ceroid lipofuscinosis, neuronal

PQBP1

Renpenning syndrome

PRDM12

Neuropathy, hereditary sensory and autonomic

Congenital Insensitivity to Pain Overview

PRDM16

Cardiomyopathy, dilated

Left ventricular noncompaction 8

PREPL

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

PRF1

Aplastic anemia

Hemophagocytic lymphohistiocytosis, familial

Lymphoma, non-Hodgkin

Familial Hemophagocytic Lymphohistiocytosis

PRICKLE1

Epilepsy, progressive myoclonic 1B

PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia

PRKAG2

Cardiomyopathy, hypertrophic 6

Glycogen storage disease of heart, lethal congenital

Wolff-Parkinson-White syndrome

Hypertrophic Cardiomyopathy Overview

PRKAR1A

Acrodysostosis 1, with or without hormone resistance

Adrenocortical tumor, somatic

Carney complex, type 1

Myxoma, intracardiac

Pigmented nodular adrenocortical disease, primary

Carney Complex

PRKCD

Autoimmune lymphoproliferative syndrome, type III

PRKD1

Congenital heart defects and ectodermal dysplasia

PRMT7

Short stature, brachydactyly

PROC

Thrombophilia 3 due to protein C deficiency, autosomal dominant

Thrombophilia 3 due to protein C deficiency, autosomal recessive

PRODH

Hyperprolinemia, type I

PROKR2

Hypogonadotropic hypogonadism 3 with or without anosmia

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

PROP1

Pituitary hormone deficiency, combined

PROP1-Related Combined Pituitary Hormone Deficiency

PROS1

Thrombophilia 5 due to protein S deficiency, autosomal dominant

Thrombophilia 5 due to protein S deficiency, autosomal recessive

PRPS1

Arts syndrome

Charcot-Marie-Tooth disease, X-linked recessive

Deafness, X-linked 1

Gout, PRPS-related

Phosphoribosylpyrophosphate synthetase superactivity

Hereditary Hearing Loss and Deafness Overview

Charcot-Marie-Tooth Neuropathy X Type 5

Phosphoribosylpyrophosphate Synthetase Superactivity

Arts Syndrome

DFNX1 Nonsyndromic Hearing Loss and Deafness

PRRT2

Convulsions, familial infantile

Episodic kinesigenic dyskinesia 1

Seizures, benign familial infantile

PRRT2-Associated Paroxysmal Movement Disorders

PRRX1

Agnathia-otocephaly complex

PRSS12

Mental retardation, autosomal recessive 1

PRSS56

Microphthalmia, isolated 6

PRUNE1

Neurodevelopmental disorder with microcephaly, hypotonia

PRX

Charcot-Marie-Tooth disease, type 4F

Dejerine-Sottas disease

Charcot-Marie-Tooth Hereditary Neuropathy Overview

PSAP

Combined SAP deficiency

Gaucher disease, atypical

Krabbe disease, atypical

Metachromatic leukodystrophy due to SAP-b deficiency

PSAT1

Neu-Laxova syndrome 2

PSMB8

Proteasome-associated autoinflammatory syndrome 1 and digenic forms

PSMD12

Stankiewicz-Isidor syndrome

PSPH

Phosphoserine phosphatase deficiency

PTCH1

Basal cell carcinoma, somatic

Basal cell nevus syndrome

Holoprosencephaly 7

Nevoid Basal Cell Carcinoma Syndrome

Holoprosencephaly Overview

PTCHD1

PTDSS1

Lenz-Majewski hyperostotic dwarfism

PTEN

Cowden syndrome 1

Lhermitte-Duclos syndrome

Macrocephaly/autism syndrome

Prostate cancer, somatic

PTEN Hamartoma Tumor Syndrome

PTF1A

Pancreatic agenesis 2

Pancreatic and cerebellar agenesis

PTH1R

Chondrodysplasia, Blomstrand type

Eiken syndrome

Failure of tooth eruption, primary

Metaphyseal chondrodysplasia, Murk Jansen type

PTHLH

Brachydactyly, type E2

PTPN11

LEOPARD syndrome 1

Leukemia, juvenile myelomonocytic

Metachondromatosis

Noonan syndrome 1

Noonan Syndrome

Noonan Syndrome with Multiple Lentigines

PTPN14

Choanal atresia and lymphedema

PTPN23

Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity

PTPRC

Severe combined immunodeficiency, T cell-negative

PTRF

Lipodystrophy, congenital generalized

PTRH2

Infantile-onset multisystem neurologic, endocrine

Charcot-Marie-Tooth Hereditary Neuropathy Overview

PTS

Hyperphenylalaninemia, BH4-deficient

PUF60

Verheij syndrome

PURA

Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia

PURA-Related Neurodevelopmental Disorders

PUS1

Myopathy, lactic acidosis

PUS7

Intellectual developmental disorder with abnormal behavior, microcephaly

PXDN

Anterior segment dysgenesis 7, with sclerocornea

PYCR1

Cutis laxa, autosomal recessive

Cutis laxa, autosomal recessive

PYCR2

Leukodystrophy, hypomyelinating

PYGL

Glycogen storage disease VI

Glycogen Storage Disease Type VI

PYGM

McArdle disease

Glycogen Storage Disease Type V

PYROXD1

Myopathy, myofibrillar

QARS1

Microcephaly, progressive

QDPR

Hyperphenylalaninemia, BH4-deficient

QRICH1

Ververi-Brady syndrome

RAB11B

Neurodevelopmental disorder with ataxic gait, absent speech

RAB18

Warburg micro syndrome 3

RAB18 Deficiency

RAB23

Carpenter syndrome

RAB27A

Griscelli syndrome, type 2

RAB39B

Intellectual developmental disorder, X-linked 72

Waisman syndrome

Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

RAB3GAP1

Martsolf syndrome 2

Warburg micro syndrome 1

RAB18 Deficiency

RAB3GAP2

Martsolf syndrome 1

Warburg micro syndrome 2

RAB18 Deficiency

RAB7A

Charcot-Marie-Tooth Hereditary Neuropathy Overview

RAC1

Mental retardation, autosomal dominant 48

RAC2

Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis

Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia

RAD21

Cornelia de Lange syndrome 4

Cornelia de Lange Syndrome

Trichorhinophalangeal Syndrome

RAD50

Nijmegen breakage syndrome-like disorder

RAF1

Cardiomyopathy, dilated

LEOPARD syndrome 2

Noonan syndrome 5

Noonan Syndrome

Noonan Syndrome with Multiple Lentigines

RAG1

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection

Combined cellular and humoral immune defects with granulomas

Omenn syndrome

Severe combined immunodeficiency, B cell-negative

RAG2

Combined cellular and humoral immune defects with granulomas

Omenn syndrome

Severe combined immunodeficiency, B cell-negative

RAI1

Smith-Magenis syndrome

Smith-Magenis Syndrome

Potocki-Lupski Syndrome

RALGAPA1

Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency

RAPSN

Fetal akinesia deformation sequence 2

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

RARB

Microphthalmia, syndromic 12

RARS1

Leukodystrophy, hypomyelinating

RARS2

Pontocerebellar hypoplasia, type 6

RASA1

Basal cell carcinoma, somatic

Capillary malformation-arteriovenous malformation 1

Capillary Malformation-Arteriovenous Malformation Syndrome

RAX

Dystonia 16

Microphthalmia, isolated 3

RB1

Bladder cancer, somatic

Osteosarcoma, somatic

Retinoblastoma

Retinoblastoma, trilateral

Small cell cancer of the lung, somatic

Retinoblastoma

RBBP8

Jawad syndrome

Pancreatic carcinoma, somatic (3)

Seckel syndrome 2

RBCK1

Polyglucosan body myopathy 1 with or without immunodeficiency

RBM10

TARP syndrome

RBM20

Cardiomyopathy, dilated

Dilated Cardiomyopathy Overview

RBM8A

Thrombocytopenia-absent radius syndrome

Thrombocytopenia Absent Radius Syndrome

RBPJ

Adams-Oliver syndrome 3

Adams-Oliver Syndrome

RDH11

RECQL4

Baller-Gerold syndrome

RAPADILINO syndrome

Rothmund-Thomson syndrome, type 2

Baller-Gerold Syndrome

Rothmund-Thomson Syndrome

RELN

Lissencephaly 2 (Norman-Roberts type)

Autosomal Dominant Epilepsy with Auditory Features

REN

Renal tubular dysgenesis

Tubulointerstitial kidney disease, autosomal dominant

Autosomal Dominant Tubulointerstitial Kidney Disease -- REN

RERE

Neurodevelopmental disorder with or without anomalies of the brain, eye

RERE-Related Disorders

RET

Medullary thyroid carcinoma

Multiple endocrine neoplasia IIA

Multiple endocrine neoplasia IIB

Pheochromocytoma

Multiple Endocrine Neoplasia Type 2

RETREG1

Neuropathy, hereditary sensory and autonomic

Hereditary Sensory and Autonomic Neuropathy Type II

RFT1

Congenital disorder of glycosylation, type In

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

RFX5

Bare lymphocyte syndrome, type II

Bare lymphocyte syndrome, type II

RFX6

Mitchell-Riley syndrome

RHOBTB2

Developmental and epileptic encephalopathy 64

RIC1

CATIFA syndrome

RIMS2

Cone-rod synaptic disorder syndrome, congenital nonprogressive

RIN2

Macrocephaly, alopecia

RIPK4

CHAND syndrome

Popliteal pterygium syndrome, Bartsocas-Papas type 1

RIT1

Noonan syndrome 8

Noonan Syndrome

RLIM

Tonne-Kalscheuer syndrome

RMND1

Combined oxidative phosphorylation deficiency 11

RMRP

Anauxetic dysplasia 1

Cartilage-hair hypoplasia

Metaphyseal dysplasia without hypotrichosis

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

RNASEH2A

Aicardi-Goutieres syndrome 4

Aicardi-Goutieres Syndrome

RNASEH2B

Aicardi-Goutieres syndrome 2

Aicardi-Goutieres Syndrome

RNASEH2C

Aicardi-Goutieres syndrome 3

Aicardi-Goutieres Syndrome

RNASET2

Leukoencephalopathy, cystic

RNF113A

Trichothiodystrophy 5, nonphotosensitive

RNF13

Developmental and epileptic encephalopathy 73

RNF135

RNF168

RIDDLE syndrome

ROBO3

Gaze palsy, familial horizontal

ROGDI

Kohlschutter-Tonz syndrome

ROR2

Brachydactyly, type B1

Robinow syndrome, autosomal recessive

ROR2-Related Robinow Syndrome

RORA

Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

RPE65

Leber congenital amaurosis 2

Retinitis pigmentosa 20

Retinitis pigmentosa 87 with choroidal involvement

Nonsyndromic Retinitis Pigmentosa Overview

RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy

RPGR

Cone-rod dystrophy, X-linked

Macular degeneration, X-linked atrophic

Retinitis pigmentosa 3

Retinitis pigmentosa, X-linked

Nonsyndromic Retinitis Pigmentosa Overview

RPGRIP1

Cone-rod dystrophy 13

Leber congenital amaurosis 6

RPGRIP1L

Joubert syndrome 7

Meckel syndrome 5

Joubert Syndrome

Nephronophthisis

RPIA

Ribose 5-phosphate isomerase deficiency

RPL10

Intellectual developmental disorder, X-linked

RPL11

Diamond-Blackfan anemia 7

Diamond-Blackfan Anemia

RPL13

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

RPL26

Diamond-Blackfan Anemia

RPL5

Diamond-Blackfan anemia 6

Diamond-Blackfan Anemia

RPS15

RPS17

Diamond-Blackfan anemia 4

Diamond-Blackfan Anemia

RPS19

Diamond-Blackfan anemia 1

Diamond-Blackfan Anemia

RPS24

Diamond-blackfan anemia 3

Diamond-Blackfan Anemia

RPS26

Diamond-Blackfan anemia 10

Diamond-Blackfan Anemia

RPS28

Diamond Blackfan anemia 15 with mandibulofacial dysostosis

Diamond-Blackfan Anemia

RPS29

Diamond-Blackfan anemia 13

Diamond-Blackfan Anemia

RPS6KA3

Coffin-Lowry syndrome

Intellectual developmental disorder, X-linked 19

Coffin-Lowry Syndrome

RPS7

Diamond-Blackfan anemia 8

Diamond-Blackfan Anemia

RRM2B

Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)

Mitochondrial DNA depletion syndrome 8B (MNGIE type)

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

RRM2B Mitochondrial DNA Maintenance Defects

RS1

Retinoschisis

X-Linked Congenital Retinoschisis

RSPH1

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

RSPH3

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

RSPH4A

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

RSPH9

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

RSPO2

Tetraamelia syndrome 2

RSPO4

Anonychia congenita

RSPRY1

Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type

RTEL1

Dyskeratosis congenita, autosomal dominant 4

Dyskeratosis congenita, autosomal recessive 5

Pulmonary fibrosis and/or bone marrow failure, telomere-related

Dyskeratosis Congenita

RTN4IP1

Optic atrophy 10 with or without ataxia, mental retardation

RTTN

Microcephaly, short stature

RUNX2

Cleidocranial dysplasia

Cleidocranial dysplasia, forme fruste

Cleidocranial dysplasia, forme fruste

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly

Cleidocranial Dysplasia Spectrum Disorder

RXYLT1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

RYR1

Central core disease

King-Denborough syndrome

Minicore myopathy with external ophthalmoplegia

Neuromuscular disease, congenital

Malignant Hyperthermia Susceptibility

RYR2

Arrhythmogenic right ventricular dysplasia 2

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Ventricular tachycardia, catecholaminergic polymorphic

Arrhythmogenic Right Ventricular Cardiomyopathy

Catecholaminergic Polymorphic Ventricular Tachycardia

SACS

Spastic ataxia, Charlevoix-Saguenay type

ARSACS

SALL1

Townes-Brocks branchiootorenal-like syndrome

Townes-Brocks syndrome 1

Townes-Brocks Syndrome

SALL4

Duane-radial ray syndrome

Duane Syndrome

SALL4-Related Disorders

SAMD9

MIRAGE syndrome

Monosomy 7 myelodysplasia and leukemia syndrome 2

Tumoral calcinosis, familial

MIRAGE Syndrome

SAMD9L

Ataxia-pancytopenia syndrome

Monosomy 7 myelodysplasia and leukemia syndrome 1

SAMD9L Ataxia-Pancytopenia Syndrome

SAMHD1

Aicardi-Goutieres syndrome 5

Aicardi-Goutieres Syndrome

SARS2

Hyperuricemia, pulmonary hypertension

SASS6

Microcephaly 14, primary

SATB2

Glass syndrome

SATB2-Associated Syndrome

SBDS

Shwachman-Diamond syndrome

Shwachman-Diamond Syndrome

Pancreatitis Overview

SBF1

Charcot-Marie-Tooth disease, type 4B3

Charcot-Marie-Tooth Hereditary Neuropathy Overview

SC5D

Lathosterolosis

SCAPER

Intellectual developmental disorder and retinitis pigmentosa

SCARF2

Van den Ende-Gupta syndrome

SCN11A

Episodic pain syndrome, familial

Neuropathy, hereditary sensory and autonomic

Congenital Insensitivity to Pain Overview

SCN1A

Developmental and epileptic encephalopathy 6B, non-Dravet

Dravet syndrome

Febrile seizures, familial

Generalized epilepsy with febrile seizures plus, type 2

Migraine, familial hemiplegic

SCN1A-Related Seizure Disorders

Familial Hemiplegic Migraine

SCN1B

Atrial fibrillation, familial

Brugada syndrome 5

Cardiac conduction defect, nonspecific

Developmental and epileptic encephalopathy 52

Generalized epilepsy with febrile seizures plus, type 1

Brugada Syndrome

SCN2A

Developmental and epileptic encephalopathy 11

Episodic ataxia, type 9

Seizures, benign familial infantile

SCN3A

Developmental and epileptic encephalopathy 62

Epilepsy, familial focal

SCN3A-Related Neurodevelopmental Disorder

SCN4A

Hyperkalemic periodic paralysis, type 2

Hypokalemic periodic paralysis, type 2

Myasthenic syndrome, congenital

Myotonia congenita, atypical

Paramyotonia congenita

Congenital Myasthenic Syndromes Overview

Hypokalemic Periodic Paralysis

Hyperkalemic Periodic Paralysis

SCN5A

Atrial fibrillation, familial

Brugada syndrome 1

Cardiomyopathy, dilated

Heart block, nonprogressive

Heart block, progressive

Long QT syndrome 3

Sick sinus syndrome 1

Ventricular fibrillation, familial

Long QT Syndrome

Brugada Syndrome

SCN8A

Cognitive impairment with or without cerebellar ataxia

Developmental and epileptic encephalopathy 13

Seizures, benign familial infantile

SCN8A-Related Epilepsy with Encephalopathy

SCN9A

Erythermalgia, primary

Insensitivity to pain, congenital

Neuropathy, hereditary sensory and autonomic

Paroxysmal extreme pain disorder

Small fiber neuropathy

SCN9A Neuropathic Pain Syndromes

Hereditary Sensory and Autonomic Neuropathy Type II

Congenital Insensitivity to Pain Overview

SCNN1A

Bronchiectasis with or without elevated sweat chloride 2

Pseudohypoaldosteronism, type I

SCNN1B

Bronchiectasis with or without elevated sweat chloride 1

Liddle syndrome 1

Pseudohypoaldosteronism, type I

SCO1

Mitochondrial complex IV deficiency, nuclear type 4

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

SCO2

Mitochondrial complex IV deficiency, nuclear type 2

Myopia 6

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

SCYL1

Spinocerebellar ataxia, autosomal recessive 21

SCYL2

Arthrogryposis multiplex congenita 4, neurogenic

SDCCAG8

Bardet-Biedl syndrome 16

Senior-Loken syndrome 7

Bardet-Biedl Syndrome Overview

Nephronophthisis

SDHA

Cardiomyopathy, dilated

Mitochondrial complex II deficiency, nuclear type 1

Neurodegeneration with ataxia and late-onset optic atrophy

Paragangliomas 5

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

SDHAF1

Mitochondrial complex II deficiency, nuclear type 2

SDHAF2

Paragangliomas 2

Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHB

Gastrointestinal stromal tumor

Mitochondrial complex II deficiency, nuclear type 4

Paraganglioma and gastric stromal sarcoma

Paragangliomas 4

Pheochromocytoma

Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHC

Gastrointestinal stromal tumor

Paraganglioma and gastric stromal sarcoma

Paragangliomas 3

Hereditary Paraganglioma-Pheochromocytoma Syndromes

SDHD

Mitochondrial complex II deficiency, nuclear type 3

Paraganglioma and gastric stromal sarcoma

Paragangliomas 1, with or without deafness

Pheochromocytoma

Hereditary Paraganglioma-Pheochromocytoma Syndromes

SEC23B

Dyserythropoietic anemia, congenital

SEC24D

Cole-Carpenter syndrome 2

SELENOI

Spastic paraplegia 81, autosomal recessive

SELENON

Muscular dystrophy, rigid spine

Myopathy, congenital

SEPN1

Muscular dystrophy, rigid spine

Myopathy, congenital

SEPSECS

Pontocerebellar hypoplasia type 2D

44813

Amyotrophy, hereditary neuralgic

SERAC1

3-methylglutaconic aciduria with deafness, encephalopathy

SERAC1 Deficiency

SERPINF1

Osteogenesis imperfecta, type VI

SERPINH1

Osteogenesis imperfecta, type X

SET

Mental retardation, autosomal dominant 58

SETBP1

Mental retardation, autosomal dominant 29

Schinzel-Giedion midface retraction syndrome

SETBP1 Haploinsufficiency Disorder

SETD1A

Epilepsy, early-onset

Neurodevelopmental disorder with speech impairment and dysmorphic facies

SETD2

Luscan-Lumish syndrome

SETD2 Neurodevelopmental Disorders

SETD5

Mental retardation, autosomal dominant 23

SETX

Amyotrophic lateral sclerosis 4, juvenile

Spinocerebellar ataxia, autosomal recessive

Ataxia with Oculomotor Apraxia Type 2

Charcot-Marie-Tooth Hereditary Neuropathy Overview

SF3B4

Acrofacial dysostosis 1, Nager type

SFTPB

Surfactant metabolism dysfunction, pulmonary

SFTPC

Surfactant metabolism dysfunction, pulmonary

Pulmonary Fibrosis Predisposition Overview

SFXN4

Combined oxidative phosphorylation deficiency 18

SGCA

Muscular dystrophy, limb-girdle

SGCB

Muscular dystrophy, limb-girdle

SGCD

Cardiomyopathy, dilated

Muscular dystrophy, limb-girdle

Dilated Cardiomyopathy Overview

SGCE

Dystonia-11, myoclonic

SGCE Myoclonus-Dystonia

SGCG

Muscular dystrophy, limb-girdle

SGPL1

Nephrotic syndrome, type 14

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Sphingosine Phosphate Lyase Insufficiency Syndrome

SGSH

Mucopolysaccharidosis type IIIA (Sanfilippo A)

Mucopolysaccharidosis Type III

SH2D1A

Lymphoproliferative syndrome, X-linked

Lymphoproliferative Disease, X-Linked

SH3PXD2B

Frank-ter Haar syndrome

SH3TC2

Charcot-Marie-Tooth disease, type 4C

Mononeuropathy of the median nerve, mild

SH3TC2-Related Hereditary Motor and Sensory Neuropathy

SHANK2

SHANK3

Phelan-McDermid syndrome

Phelan-McDermid Syndrome

SHH

Holoprosencephaly 3

Microphthalmia with coloboma 5

Schizencephaly

Single median maxillary central incisor

Holoprosencephaly Overview

SHOC2

Noonan syndrome-like with loose anagen hair 1

SHOX

Langer mesomelic dysplasia

Leri-Weill dyschondrosteosis

Short stature, idiopathic familial

SHOX Deficiency Disorders

SIK1

Developmental and epileptic encephalopathy 30

SIL1

Marinesco-Sjogren syndrome

Marinesco-Sjogren Syndrome

SIM1

SIN3A

Witteveen-Kolk syndrome

SIX1

Branchiootic syndrome 3

Deafness, autosomal dominant 23

Branchiootorenal Spectrum Disorder

Hereditary Hearing Loss and Deafness Overview

SIX3

Holoprosencephaly 2

Schizencephaly

Holoprosencephaly Overview

SIX5

Branchiootorenal syndrome 2

Branchiootorenal Spectrum Disorder

SKI

Shprintzen-Goldberg syndrome

Shprintzen-Goldberg Syndrome

SKIV2L

Trichohepatoenteric syndrome 2

Trichohepatoenteric Syndrome

SLC10A7

Short stature, amelogenesis imperfecta

SLC12A1

Bartter syndrome, type 1

SLC12A3

Gitelman syndrome

SLC12A5

Developmental and epileptic encephalopathy 34

SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures

SLC12A6

Agenesis of the corpus callosum with peripheral neuropathy

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

SLC13A5

Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta

SLC16A1

Erythrocyte lactate transporter defect

Hyperinsulinemic hypoglycemia, familial

Monocarboxylate transporter 1 deficiency

SLC16A2

Allan-Herndon-Dudley syndrome

Allan-Herndon-Dudley Syndrome

SLC17A5

Salla disease

Sialic acid storage disorder, infantile

Free Sialic Acid Storage Disorders

SLC19A2

Thiamine-responsive megaloblastic anemia syndrome

Thiamine-Responsive Megaloblastic Anemia Syndrome

SLC19A3

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)

Biotin-Thiamine-Responsive Basal Ganglia Disease

SLC1A2

Developmental and epileptic encephalopathy 41

SLC22A5

Carnitine deficiency, systemic primary

Systemic Primary Carnitine Deficiency

SLC25A1

Combined D-2- and L-2-hydroxyglutaric aciduria

Myasthenic syndrome, congenital

Congenital Myasthenic Syndromes Overview

SLC25A12

Developmental and epileptic encephalopathy 39

SLC25A13

Citrullinemia, adult-onset type II

Citrullinemia, type II

Citrin Deficiency

SLC25A15

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

SLC25A19

Microcephaly, Amish type

Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)

Amish Lethal Microcephaly

SLC25A20

Carnitine-acylcarnitine translocase deficiency

SLC25A22

Developmental and epileptic encephalopathy 3

SLC25A24

Fontaine progeroid syndrome

SLC25A26

Combined oxidative phosphorylation deficiency 28

SLC25A3

Mitochondrial phosphate carrier deficiency

SLC25A38

Anemia, sideroblastic

SLC25A4

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

SLC25A42

Metabolic crises, recurrent

SLC26A2

Achondrogenesis Ib

Atelosteogenesis, type II

De la Chapelle dysplasia

Diastrophic dysplasia

Diastrophic dysplasia, broad bone-platyspondylic variant

Epiphyseal dysplasia, multiple

Multiple Epiphyseal Dysplasia, Recessive

Atelosteogenesis Type 2

Diastrophic Dysplasia

Achondrogenesis Type 1B

SLC26A3

Diarrhea 1, secretory chloride

SLC26A4

Deafness, autosomal recessive 4

Pendred syndrome

Hereditary Hearing Loss and Deafness Overview

Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct

SLC27A4

Ichthyosis prematurity syndrome

Autosomal Recessive Congenital Ichthyosis

SLC2A1

Dystonia 9

GLUT1 deficiency syndrome 1, infantile onset

GLUT1 deficiency syndrome 2, childhood onset

Stomatin-deficient cryohydrocytosis with neurologic defects

Glucose Transporter Type 1 Deficiency Syndrome

SLC2A10

Arterial tortuosity syndrome

Arterial Tortuosity Syndrome

SLC2A2

Fanconi-Bickel syndrome

SLC30A10

Hypermanganesemia with dystonia 1

Hypermanganesemia with Dystonia 1

SLC33A1

Congenital cataracts, hearing loss

Spastic paraplegia 42, autosomal dominant

Huppke-Brendel Syndrome

SLC34A2

Pulmonary alveolar microlithiasis

SLC34A3

Hypophosphatemic rickets with hypercalciuria

SLC35A1

Congenital disorder of glycosylation, type IIf

SLC35A2

Congenital disorder of glycosylation, type IIm

SLC35A3

Arthrogryposis, impaired intellectual development

SLC35C1

Congenital disorder of glycosylation, type IIc

SLC35D1

Schneckenbecken dysplasia

SLC37A4

Congenital disorder of glycosylation, type IIw

Glycogen storage disease Ib

Glycogen storage disease Ic

Glycogen Storage Disease Type I

SLC39A13

Ehlers-Danlos syndrome, spondylodysplastic type

SLC39A4

Acrodermatitis enteropathica

SLC39A8

Congenital disorder of glycosylation, type IIn

SLC3A1

Cystinuria

SLC45A2

Albinism, oculocutaneous

Oculocutaneous Albinism Type 4

SLC46A1

Folate malabsorption, hereditary

Hereditary Folate Malabsorption

SLC4A1

Cryohydrocytosis

Distal renal tubular acidosis 1

Distal renal tubular acidosis 4 with hemolytic anemia

Ovalocytosis, SA type

Spherocytosis, type 4

Hereditary Distal Renal Tubular Acidosis

SLC4A11

Corneal dystrophy, Fuchs endothelial

Corneal endothelial dystrophy and perceptive deafness

Corneal endothelial dystrophy, autosomal recessive

SLC4A4

Renal tubular acidosis, proximal

SLC52A2

Brown-Vialetto-Van Laere syndrome 2

Riboflavin Transporter Deficiency

SLC52A3

Brown-Vialetto-Van Laere syndrome 1

Riboflavin Transporter Deficiency

SLC5A1

Glucose/galactose malabsorption

SLC5A2

Renal glucosuria

SLC5A5

Thyroid dyshormonogenesis 1

SLC5A6

Neurodegeneration, infantile-onset

SLC5A7

Myasthenic syndrome, congenital

Neuronopathy, distal hereditary motor

Congenital Myasthenic Syndromes Overview

SLC6A1

Myoclonic-atonic epilepsy

SLC6A3

Parkinsonism-dystonia, infantile

SLC6A3-Related Dopamine Transported Deficiency Syndrome

SLC6A5

Hyperekplexia 3

Hereditary Hyperekplexia Overview

SLC6A8

Cerebral creatine deficiency syndrome 1

Creatine Deficiency Disorders

SLC6A9

Glycine encephalopathy with normal serum glycine

GLYT1 Encephalopathy

SLC7A7

Lysinuric protein intolerance

Lysinuric Protein Intolerance

SLC7A9

Cystinuria

SLC9A1

Lichtenstein-Knorr syndrome

SLC9A6

Intellectual developmental disorder, X-linked syndromic

Christianson Syndrome

SLCO2A1

Hypertrophic osteoarthropathy, primary

Hypertrophic osteoarthropathy, primary

SLX4

Fanconi anemia, complementation group P

Fanconi Anemia

Esophageal Atresia/Tracheoesophageal Fistula Overview

SMAD3

Loeys-Dietz syndrome 3

Heritable Thoracic Aortic Disease Overview

Loeys-Dietz Syndrome

SMAD4

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Myhre syndrome

Pancreatic cancer, somatic

Polyposis, juvenile intestinal

Hereditary Hemorrhagic Telangiectasia

Juvenile Polyposis Syndrome

Myhre Syndrome

SMARCA2

Blepharophimosis-impaired intellectual development syndrome

Nicolaides-Baraitser syndrome

Nicolaides-Baraitser Syndrome

SMARCA4

Coffin-Siris syndrome 4

Coffin-Siris Syndrome

Rhabdoid Tumor Predisposition Syndrome

SMARCAL1

Schimke immunoosseous dysplasia

Schimke Immunoosseous Dysplasia

SMARCB1

Coffin-Siris syndrome 3

Rhabdoid tumors, somatic

Coffin-Siris Syndrome

Rhabdoid Tumor Predisposition Syndrome

Schwannomatosis

SMARCC2

Coffin-Siris syndrome 8

Coffin-Siris Syndrome

SMARCD1

Coffin-Siris syndrome 11

SMARCE1

Coffin-Siris syndrome 5

Coffin-Siris Syndrome

SMC1A

Cornelia de Lange syndrome 2

Developmental and epileptic encephalopathy 85, with or without midline brain defects

Cornelia de Lange Syndrome

SMC3

Cornelia de Lange syndrome 3

Cornelia de Lange Syndrome

SMCHD1

Bosma arhinia microphthalmia syndrome

Fascioscapulohumeral muscular dystrophy 2, digenic

Facioscapulohumeral Muscular Dystrophy

SMN1

Spinal muscular atrophy-1

Spinal muscular atrophy-2

Spinal muscular atrophy-3

Spinal muscular atrophy-4

Spinal Muscular Atrophy

SMOC1

Microphthalmia with limb anomalies

SMPD1

Niemann-Pick disease, type A

Niemann-Pick disease, type B

Acid Sphingomyelinase Deficiency

SMPD4

Neurodevelopmental disorder with microcephaly, arthrogryposis

SMPX

Deafness, X-linked 4

Hereditary Hearing Loss and Deafness Overview

SMS

Intellectual developmental disorder, X-linked syndromic

Smith-Magenis syndrome

Snyder-Robinson Syndrome

SNAP29

Cerebral dysgenesis, neuropathy

SNORD118

Leukoencephalopathy, brain calcifications

SNRPB

Cerebrocostomandibular syndrome

SNTA1

Long QT syndrome 12

Long QT Syndrome

SNX14

Spinocerebellar ataxia, autosomal recessive 20

SON

ZTTK syndrome

SOS1

Noonan syndrome 4

Noonan Syndrome

SOS2

Noonan syndrome 9

Noonan Syndrome

SOX10

PCWH syndrome

Waardenburg syndrome, type 2E

Waardenburg syndrome, type 4C

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

SOX11

Coffin-Siris syndrome 9

Coffin-Siris Syndrome

SOX17

Vesicoureteral reflux 3

SOX2

Microphthalmia, syndromic 3

Optic nerve hypoplasia and abnormalities of the central nervous system

SOX2 Disorder

Esophageal Atresia/Tracheoesophageal Fistula Overview

SOX3

Intellectual developmental disorder, X-linked

Panhypopituitarism, X-linked

SOX5

Lamb-Shaffer syndrome

SOX6

Tolchin-Le Caignec syndrome

SOX9

Acampomelic campomelic dysplasia

Campomelic dysplasia with autosomal sex reversal

Campomelic dysplasia

Campomelic Dysplasia

SP110

Hepatic venoocclusive disease with immunodeficiency

Hepatic Veno-Occlusive Disease with Immunodeficiency

SP7

Osteogenesis imperfecta, type XII

SPAG1

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

SPART

Troyer syndrome

Troyer Syndrome

SPAST

Spastic paraplegia 4, autosomal dominant

Spastic Paraplegia 4

SPATA5

Neurodevelopmental disorder with hearing loss, seizures

SPECC1L

Opitz GBBB syndrome, type II

Teebi hypertelorism syndrome 1

SPEG

Centronuclear myopathy 5

SPINK5

Netherton syndrome

SPR

Dystonia, dopa-responsive

Sepiapterin Reductase Deficiency

SPRED1

Legius syndrome

Legius Syndrome

SPTA1

Elliptocytosis-2

Pyropoikilocytosis

Spherocytosis, type 3

SPTAN1

Developmental and epileptic encephalopathy 5

SPTB

Anemia, neonatal hemolytic

Elliptocytosis-3

Spherocytosis, type 2

SPTBN2

Spinocerebellar ataxia 5

Spinocerebellar ataxia, autosomal recessive 14

SPTBN4

Neurodevelopmental disorder with hypotonia, neuropathy

SPTBN4 Disorder

SPTLC1

Neuropathy, hereditary sensory and autonomic

Charcot-Marie-Tooth Hereditary Neuropathy Overview

SPTLC1-Related Hereditary Sensory Neuropathy

SPTLC2

Neuropathy, hereditary sensory and autonomic

SRCAP

Developmental delay, hypotonia

Floating-Harbor syndrome

Floating-Harbor Syndrome

SRD5A3

Congenital disorder of glycosylation, type Iq

Kahrizi syndrome

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

SRP54

Neutropenia, severe congenital

Shwachman-Diamond Syndrome

SRY

46XX sex reversal 1

46XY sex reversal 1

Nonsyndromic 46,XX Testicular Disorders of Sex Development

Nonsyndromic Disorders of Testicular Development

SSR4

Congenital disorder of glycosylation, type Iy

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

ST14

Ichthyosis, congenital

ST3GAL3

Developmental and epileptic encephalopathy 15

Intellectual developmental disorder, autosomal recessive 12

ST3GAL5

STAG1

Mental retardation, autosomal dominant 47

STAG2

Holoprosencephaly 13, X-linked

Mullegama-Klein-Martinez syndrome

STAMBP

Microcephaly-capillary malformation syndrome

Microcephaly-Capillary Malformation Syndrome

STAR

Lipoid adrenal hyperplasia

STAR syndrome

STAT2

Immunodeficiency 44

Pseudo-TORCH syndrome 3

STAT3

Autoimmune disease, multisystem

Hyper-IgE recurrent infection syndrome

STAT3 Hyper IgE Syndrome

STAT5B

Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Growth hormone insensitivity with immune dysregulation 2, autosomal dominant

Leukemia, acute promyelocytic

STIL

Microcephaly 7, primary

STIM1

Immunodeficiency 10

Myopathy, tubular aggregate

Stormorken syndrome

STK11

Melanoma, malignant

Pancreatic cancer, somatic

Peutz-Jeghers syndrome

Testicular tumor, somatic

Peutz-Jeghers Syndrome

STRA6

Microphthalmia, isolated

Microphthalmia, syndromic 9

STRADA

Polyhydramnios, megalencephaly

STRC

Deafness, autosomal recessive 16

Hereditary Hearing Loss and Deafness Overview

CATSPER-Related Male Infertility

STS

Ichthyosis, X-linked

STX11

Hemophagocytic lymphohistiocytosis, familial

Familial Hemophagocytic Lymphohistiocytosis

STX1B

Generalized epilepsy with febrile seizures plus, type 9

STXBP1

Developmental and epileptic encephalopathy 4

STXBP1 Encephalopathy with Epilepsy

STXBP2

Hemophagocytic lymphohistiocytosis, familial

Familial Hemophagocytic Lymphohistiocytosis

SUCLA2

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

SUCLG1

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

SUMF1

Multiple sulfatase deficiency

Multiple Sulfatase Deficiency

SUOX

Sulfite oxidase deficiency

Isolated Sulfite Oxidase Deficiency

SURF1

Charcot-Marie-Tooth disease, type 4K

Mitochondrial complex IV deficiency, nuclear type 1

Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview

SUZ12

Imagawa-Matsumoto syndrome

SVBP

Neurodevelopmental disorder with ataxia, hypotonia

SYN1

Epilepsy, X-linked

Intellectual developmental disorder, X-linked 50

SYNE1

Arthrogryposis multiplex congenita 3, myogenic type

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Spinocerebellar ataxia, autosomal recessive 8

SYNE1 Deficiency

SYNGAP1

Mental retardation, autosomal dominant 5

SYNGAP1-Related Intellectual Disability

SYNJ1

Developmental and epileptic encephalopathy 53

Parkinson disease 20, early-onset

SYP

Intellectual developmental disorder, X-linked 96

SYT1

Baker-Gordon syndrome

SZT2

Developmental and epileptic encephalopathy 18

TAB2

Congenital heart defects, nonsyndromic

TAC3

Hypogonadotropic hypogonadism 10 with or without anosmia

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

TACR3

Hypogonadotropic hypogonadism 11 with or without anosmia

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

TAF1

Dystonia-Parkinsonism, X-linked

Intellectual developmental disorder, X-linked syndromic 33

X-Linked Dystonia-Parkinsonism Syndrome

TAF13

Mental retardation, autosomal recessive 60

TAF2

Intellectual developmental disorder, autosomal recessive 40

TAF6

Alazami-Yuan syndrome

TANGO2

Metabolic encephalomyopathic crises, recurrent

TANGO2-Related Metabolic Encephalopathy and Arrhythmias

TASP1

Suleiman-El-Hattab syndrome

TAT

Tyrosinemia, type II

TAZ

Barth syndrome

TBC1D20

Warburg micro syndrome 4

RAB18 Deficiency

TBC1D23

Pontocerebellar hypoplasia, type 11

TBC1D24

DOORS syndrome

Deafness, autosomal dominant 65

Deafness, autosomal recessive 86

Developmental and epileptic encephalopathy 16

Epilepsy, rolandic

Myoclonic epilepsy, infantile

TBC1D24-Related Disorders

TBCD

Encephalopathy, progressive

TBCE

Encephalopathy, progressive

Hypoparathyroidism-retardation-dysmorphism syndrome

Kenny-Caffey syndrome, type 1

TBCK

Hypotonia, infantile

TBL1XR1

Mental retardation, autosomal dominant 41

Pierpont syndrome

TBR1

Intellectual developmental disorder with autism and speech delay

TBX1

Conotruncal anomaly face syndrome

DiGeorge syndrome

Tetralogy of Fallot

Velocardiofacial syndrome

22q11.2 Deletion Syndrome

TBX15

Cousin syndrome

TBX18

Congenital anomalies of kidney and urinary tract 2

TBX20

Atrial septal defect 4

TBX22

Cleft palate with ankyloglossia

TBX3

Ulnar-mammary syndrome

TBX4

Amelia, posterior

Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension

TBX5

Holt-Oram syndrome

Holt-Oram Syndrome

TBXAS1

Ghosal hematodiaphyseal syndrome

TCAP

Cardiomyopathy, hypertrophic

Muscular dystrophy, limb-girdle

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

TCF12

Craniosynostosis 3

Hypogonadotropic hypogonadism 26 with or without anosmia

TCF20

Developmental delay with variable intellectual impairment and behavioral abnormalities

TCF4

Corneal dystrophy, Fuchs endothelial

Pitt-Hopkins syndrome

Pitt-Hopkins Syndrome

TCIRG1

Osteopetrosis, autosomal recessive 1

TCN2

Transcobalamin II deficiency

TCOF1

Treacher Collins syndrome 1

Treacher Collins Syndrome

TCTN1

Joubert Syndrome

TCTN2

Joubert syndrome 24

Joubert Syndrome

TCTN3

Joubert syndrome 18

Orofaciodigital syndrome IV

Joubert Syndrome

TECPR2

Neuropathy, hereditary sensory and autonomic

TECTA

Deafness, autosomal dominant 8/12

Deafness, autosomal recessive 21

Hereditary Hearing Loss and Deafness Overview

TEK

Glaucoma 3, primary congenital

Venous malformations, multiple cutaneous and mucosal

Primary Congenital Glaucoma

Multiple Cutaneous and Mucosal Venous Malformations

TELO2

You-Hoover-Fong syndrome

TERC

Dyskeratosis congenita, autosomal dominant 1

Pulmonary Fibrosis Predisposition Overview

Dyskeratosis Congenita

TERT

Dyskeratosis congenita, autosomal dominant 2

Dyskeratosis congenita, autosomal recessive 4

Pulmonary fibrosis and/or bone marrow failure, telomere-related

Pulmonary Fibrosis Predisposition Overview

Dyskeratosis Congenita

TFAP2A

Branchiooculofacial syndrome

Branchiooculofacial Syndrome

TFAP2B

Char syndrome

Patent ductus arteriosus 2

Char Syndrome

TFG

Hereditary motor and sensory neuropathy, Okinawa type

TG

Thyroid dyshormonogenesis 3

TGDS

Catel-Manzke syndrome

TGFB1

Camurati-Engelmann disease

Inflammatory bowel disease, immunodeficiency

Camurati-Engelmann Disease

TGFB2

Loeys-Dietz syndrome 4

Loeys-Dietz Syndrome

TGFB3

Arrhythmogenic right ventricular dysplasia 1

Loeys-Dietz syndrome 5

Arrhythmogenic Right Ventricular Cardiomyopathy

Loeys-Dietz Syndrome

TGFBR1

Loeys-Dietz syndrome 1

Heritable Thoracic Aortic Disease Overview

Loeys-Dietz Syndrome

TGFBR2

Colorectal cancer, hereditary nonpolyposis

Esophageal cancer, somatic

Loeys-Dietz syndrome 2

Heritable Thoracic Aortic Disease Overview

Loeys-Dietz Syndrome

TGIF1

Holoprosencephaly 4

Holoprosencephaly Overview

TGM1

Ichthyosis, congenital

Autosomal Recessive Congenital Ichthyosis

TGM5

Peeling skin syndrome 2

Epidermolysis Bullosa Simplex

TH

Segawa syndrome, recessive

Tyrosine Hydroxylase Deficiency

THAP1

Dystonia 6, torsion

THOC2

Intellectual developmental disorder, X-linked 12

THOC6

Beaulieu-Boycott-Innes syndrome

THOC6 Intellectual Disability Syndrome

THRA

Hypothyroidism, congenital

THRB

Thyroid hormone resistance

Thyroid hormone resistance, autosomal recessive

Thyroid hormone resistance, selective pituitary

TIMM8A

Mohr-Tranebjaerg syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome

TINF2

Dyskeratosis congenita, autosomal dominant 3

Revesz syndrome

Dyskeratosis Congenita

TJP2

Cholestasis, progressive familial intrahepatic 4

Hypercholanemia, familial 1

TK2

Mitochondrial DNA depletion syndrome 2 (myopathic type)

TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form

TKT

Short stature, developmental delay

Spondylometaepiphyseal dysplasia, short limb-hand type

Warburg-Cinotti syndrome

TLK2

Intellectual developmental disorder, autosomal dominant 57

TMC1

Deafness, autosomal dominant 36

Deafness, autosomal recessive 7

Hereditary Hearing Loss and Deafness Overview

TMCO1

Craniofacial dysmorphism, skeletal anomalies

TMEM107

Meckel syndrome 13

Orofaciodigital syndrome XVI

Joubert Syndrome

TMEM126B

Mitochondrial complex I deficiency, nuclear type 29

TMEM127

Hereditary Paraganglioma-Pheochromocytoma Syndromes

TMEM138

Joubert syndrome 16

Joubert Syndrome

TMEM165

Congenital disorder of glycosylation, type IIk

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

TMEM199

Congenital disorder of glycosylation, type IIp

TMEM216

Joubert syndrome 2

Meckel syndrome 2

Joubert Syndrome

TMEM231

Joubert syndrome 20

Meckel syndrome 11

Joubert Syndrome

TMEM237

Joubert syndrome 14

Joubert Syndrome

TMEM43

Arrhythmogenic right ventricular dysplasia 5

Emery-Dreifuss muscular dystrophy 7, AD

Arrhythmogenic Right Ventricular Cardiomyopathy

TMEM67

COACH syndrome 1

Joubert syndrome 6

Meckel syndrome 3

Nephronophthisis 11

Joubert Syndrome

Nephronophthisis

TMEM70

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

TMEM94

Intellectual developmental disorder with cardiac defects and dysmorphic facies

TMIE

Deafness, autosomal recessive 6

Hereditary Hearing Loss and Deafness Overview

TMPRSS3

Deafness, autosomal recessive 8/10

Hereditary Hearing Loss and Deafness Overview

TMPRSS6

Iron-refractory iron deficiency anemia

TMTC3

Lissencephaly 8

TMX2

Neurodevelopmental disorder with microcephaly, cortical malformations

TNFRSF11B

Paget disease of bone 5, juvenile-onset

TNFRSF13B

Immunodeficiency, common variable

Immunoglobulin A deficiency 2

TNFSF11

Osteopetrosis, autosomal recessive 2

TNNC1

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Hypertrophic Cardiomyopathy Overview

TNNI2

Arthrogryposis, distal

TNNI3

Cardiomyopathy, dilated

Cardiomyopathy, familial restrictive

Cardiomyopathy, hypertrophic

Hypertrophic Cardiomyopathy Overview

TNNT1

Nemaline myopathy 5, Amish type

TNNT2

Cardiomyopathy, dilated

Cardiomyopathy, familial restrictive

Cardiomyopathy, hypertrophic

Left ventricular noncompaction 6

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

TNNT3

Arthrogryposis, distal

TOE1

Pontocerebellar hypoplasia, type 7

TOP3A

Microcephaly, growth restriction

TP53

Bone marrow failure syndrome 5

Breast cancer, somatic

Hepatocellular carcinoma, somatic

Li-Fraumeni syndrome

Nasopharyngeal carcinoma, somatic

Pancreatic cancer, somatic 260350 (3)

Wilms Tumor Predisposition

Li-Fraumeni Syndrome

TP63

ADULT syndrome

Ectrodactyly, ectodermal dysplasia

Hay-Wells syndrome

Limb-mammary syndrome

Orofacial cleft 8

Rapp-Hodgkin syndrome

Split-hand/foot malformation 4

TP63-Related Disorders

TPI1

Hemolytic anemia due to triosephosphate isomerase deficiency

TPK1

Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

TPM1

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Left ventricular noncompaction 9

Dilated Cardiomyopathy Overview

Hypertrophic Cardiomyopathy Overview

TPM2

Arthrogryposis, distal

Arthrogryposis, distal

CAP myopathy 2

Nemaline myopathy 4, autosomal dominant

TPM3

CAP myopathy 1

Myopathy, congenital

Nemaline myopathy 1, autosomal dominant or recessive

TPO

Thrombocythemia 1

Thyroid dyshormonogenesis 2A

TPP1

Ceroid lipofuscinosis, neuronal

Spinocerebellar ataxia, autosomal recessive 7

TRAPPC11

Muscular dystrophy, limb-girdle

TRAPPC2

Spondyloepiphyseal dysplasia tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

TRAPPC4

Neurodevelopmental disorder with epilepsy, spasticity

TRAPPC9

Mental retardation, autosomal recessive 13

TRDN

Cardiac arrhythmia syndrome, with or without skeletal muscle weakness

Catecholaminergic Polymorphic Ventricular Tachycardia

TREX1

Aicardi-Goutieres syndrome 1, dominant and recessive

Chilblain lupus

Vasculopathy, retinal

Aicardi-Goutieres Syndrome

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

TRIM2

Charcot-Marie-Tooth disease, type 2R

Charcot-Marie-Tooth Hereditary Neuropathy Overview

TRIM32

Muscular dystrophy, limb-girdle

Bardet-Biedl Syndrome Overview

TRIM37

Mulibrey nanism

TRIO

Intellectual developmental disorder, autosomal dominant 44

Intellectual developmental disorder, autosomal dominant 63

TRIO-Related Intellectual Disability

TRIOBP

Deafness, autosomal recessive 28

Hereditary Hearing Loss and Deafness Overview

TRIP11

Achondrogenesis, type IA

Odontochondrodysplasia 1

TRIP12

Mental retardation, autosomal dominant 49

TRIP13

Mosaic variegated aneuploidy syndrome 3

Oocyte maturation defect 9

TRIP4

Spinal muscular atrophy with congenital bone fractures 1

TRIT1

Combined oxidative phosphorylation deficiency 35

TRMT1

Intellectual developmental disorder, autosomal recessive 68

TRMT10A

Microcephaly, short stature

TRMU

Liver failure, transient infantile

TRNT1

Retinitis pigmentosa and erythrocytic microcytosis

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers

TRPM1

Night blindness, congenital stationary (complete)

TRPM4

Erythrokeratodermia veriabilis et progressiva 6

Progressive familial heart block, type IB

Brugada Syndrome

TRPM6

Hypomagnesemia 1, intestinal

TRPS1

Trichorhinophalangeal syndrome, type I

Trichorhinophalangeal syndrome, type III

Trichorhinophalangeal Syndrome

TRPV3

Olmsted syndrome 1

TRPV4

Brachyolmia type 3

Digital arthropathy-brachydactyly, familial

Hereditary motor and sensory neuropathy, type IIc

Metatropic dysplasia

Neuronopathy, distal hereditary motor

Parastremmatic dwarfism

SED, Maroteaux type

Scapuloperoneal spinal muscular atrophy

Spondylometaphyseal dysplasia, Kozlowski type

Autosomal Dominant TRPV4 Disorders

TRPV6

Hyperparathyroidism, transient neonatal

Pancreatitis Overview

TRRAP

Developmental delay with or without dysmorphic facies and autism

TSC1

Focal cortical dysplasia, type II

Lymphangioleiomyomatosis

Tuberous sclerosis-1

Tuberous Sclerosis Complex

TSC2

Lymphangioleiomyomatosis, somatic

Tuberous sclerosis-2

Tuberous Sclerosis Complex

TSEN15

Pontocerebellar hypoplasia, type 2F

TSEN2

Pontocerebellar hypoplasia type 2B

TSEN54

Pontocerebellar hypoplasia type 2A

Pontocerebellar hypoplasia type 4

TSEN54 Pontocerebellar Hypoplasia

TSFM

Combined oxidative phosphorylation deficiency 3

TSHB

Hypothyroidism, congenital

TSHR

Hyperthyroidism, familial gestational

Hyperthyroidism, nonautoimmune

Hypothyroidism, congenital

Thyroid adenoma, hyperfunctioning

Thyroid carcinoma with thyrotoxicosis, somatic (3)

TSPAN7

Intellectual developmental disorder, X-linked 58

TSPYL1

Sudden infant death with dysgenesis of the testes syndrome

TTC19

Mitochondrial complex III deficiency, nuclear type 2

TTC21B

Nephronophthisis 12

Short-rib thoracic dysplasia 4 with or without polydactyly

Joubert Syndrome

Nephronophthisis

TTC37

Trichohepatoenteric syndrome 1

Trichohepatoenteric Syndrome

TTC7A

Gastrointestinal defects and immunodeficiency syndrome

TTC8

Bardet-Biedl syndrome 8

Bardet-Biedl Syndrome Overview

Nonsyndromic Retinitis Pigmentosa Overview

TTN

Cardiomyopathy, dilated

Cardiomyopathy, familial hypertrophic

Muscular dystrophy, limb-girdle

Myopathy, myofibrillar

Salih myopathy

Tibial muscular dystrophy, tardive

Dilated Cardiomyopathy Overview

Udd Distal Myopathy - Tibial Muscular Dystrophy

Salih Myopathy

Hereditary Myopathy with Early Respiratory Failure

TTPA

Ataxia with isolated vitamin E deficiency

Ataxia with Vitamin E Deficiency

TTR

Amyloidosis, hereditary

Carpal tunnel syndrome, familial

Hereditary Transthyretin Amyloidosis

TUBA1A

Lissencephaly 3

Tubulinopathies Overview

TUBA8

TUBB

Cortical dysplasia, complex

Symmetric circumferential skin creases, congenital

Tubulinopathies Overview

TUBB2A

Cortical dysplasia, complex

Tubulinopathies Overview

TUBB2B

Cortical dysplasia, complex

Congenital Fibrosis of the Extraocular Muscles Overview

Tubulinopathies Overview

TUBB3

Cortical dysplasia, complex

Fibrosis of extraocular muscles, congenital

Congenital Fibrosis of the Extraocular Muscles Overview

Tubulinopathies Overview

TUBB4A

Dystonia 4, torsion

Leukodystrophy, hypomyelinating

TUBB4A-Related Leukodystrophy

TUBG1

Cortical dysplasia, complex

TUBGCP2

Pachygyria, microcephaly

TUBGCP6

Microcephaly and chorioretinopathy, autosomal recessive

TUFM

Combined oxidative phosphorylation deficiency 4

TUSC3

Mental retardation, autosomal recessive 7

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

TWIST1

Craniosynostosis 1

Robinow-Sorauf syndrome

Saethre-Chotzen syndrome with or without eyelid anomalies

Sweeney-Cox syndrome

Saethre-Chotzen Syndrome

TWIST2

Ablepharon-macrostomia syndrome

Barber-Say syndrome

Focal facial dermal dysplasia 3, Setleis type

TWNK

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

Perrault syndrome 5

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Infantile-Onset Spinocerebellar Ataxia

Perrault Syndrome

TXNL4A

Burn-McKeown syndrome

Burn-McKeown Syndrome

TYMP

Mitochondrial DNA depletion syndrome 1 (MNGIE type)

Mitochondrial Neurogastrointestinal Encephalopathy Disease

TYR

Albinism, oculocutaneous

Albinism, oculocutaneous

Waardenburg syndrome/albinism, digenic

TYRP1

Albinism, oculocutaneous

UBA1

Spinal muscular atrophy, X-linked 2

VEXAS syndrome, somatic

Spinal Muscular Atrophy, X-Linked Infantile

UBA5

Developmental and epileptic encephalopathy 44

UBE2A

Intellectual developmental disorder, X-linked syndromic

UBE2T

Fanconi anemia, complementation group T

Fanconi Anemia

UBE3A

Angelman syndrome

Angelman Syndrome

Prader-Willi Syndrome

UBE3B

Kaufman oculocerebrofacial syndrome

Kaufman Oculocerebrofacial Syndrome

UBR1

Johanson-Blizzard syndrome

Pancreatitis Overview

UBTF

Neurodegeneration, childhood-onset

UFC1

Neurodevelopmental disorder with spasticity and poor growth

UFM1

Leukodystrophy, hypomyelinating

UGDH

Developmental and epileptic encephalopathy 84

UGP2

Developmental and epileptic encephalopathy 83

UGT1A1

Crigler-Najjar syndrome, type I

Crigler-Najjar syndrome, type II

Hyperbilirubinemia, familial transient neonatal

UMOD

Tubulointerstitial kidney disease, autosomal dominant

Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD

UMPS

Orotic aciduria

UNC13D

Hemophagocytic lymphohistiocytosis, familial

Familial Hemophagocytic Lymphohistiocytosis

UNC80

Hypotonia, infantile

UNC80 Deficiency

UPB1

Beta-ureidopropionase deficiency

UPF3B

Intellectual developmental disorder, X-linked syndromic 14

UQCC2

Mitochondrial complex III deficiency, nuclear type 7

UQCRC2

Mitochondrial complex III deficiency, nuclear type 5

UROC1

UROD

Porphyria cutanea tarda

Porphyria, hepatoerythropoietic

Familial Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria

UROS

Porphyria, congenital erythropoietic

Congenital Erythropoietic Porphyria

USB1

Poikiloderma with neutropenia

Poikiloderma with Neutropenia

USH1C

Deafness, autosomal recessive 18A

Usher syndrome, type 1C

Usher Syndrome Type I

Hereditary Hearing Loss and Deafness Overview

USH1G

Usher syndrome, type 1G

Usher Syndrome Type I

USH2A

Retinitis pigmentosa 39

Usher syndrome, type 2A

Usher Syndrome Type II

Nonsyndromic Retinitis Pigmentosa Overview

USP18

Pseudo-TORCH syndrome 2

USP9X

Intellectual developmental disorder, X-linked 99

Intellectual developmental disorder, X-linked 99

UVSSA

UV-sensitive syndrome 3

VAMP1

Myasthenic syndrome, congenital

Spastic ataxia 1, autosomal dominant

VAMP2

Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements

VANGL1

Caudal regression syndrome

VARS2

Combined oxidative phosphorylation deficiency 20

Neurodevelopmental disorder with microcephaly, seizures

VCAN

Wagner syndrome 1

VCAN-Related Vitreoretinopathy

VCL

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Dilated Cardiomyopathy Overview

VCP

Charcot-Marie-Tooth disease, type 2Y

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1

Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

VDR

Rickets, vitamin D-resistant

VHL

Erythrocytosis, familial

Hemangioblastoma, cerebellar

Pheochromocytoma

Renal cell carcinoma, somatic

von Hippel-Lindau syndrome

Von Hippel-Lindau Syndrome

VIPAS39

Arthrogryposis, renal dysfunction

VLDLR

Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

VLDLR Cerebellar Hypoplasia

VPS13A

Choreoacanthocytosis

Chorea-Acanthocytosis

VPS13B

Cohen syndrome

Cohen Syndrome

VPS33B

Arthrogryposis, renal dysfunction

VPS37A

Spastic paraplegia 53, autosomal recessive

VPS45

Neutropenia, severe congenital

VPS53

Pontocerebellar hypoplasia, type 2E

VRK1

Pontocerebellar hypoplasia type 1A

VSX2

VWF

von Willebrand disease, type 1

von Willebrand disease, type 3

von Willebrand disease, types 2A

von Willebrand Disease

WAC

Desanto-Shinawi syndrome

WAC-Related Intellectual Disability

WAS

Neutropenia, severe congenital

Thrombocytopenia, X-linked

Thrombocytopenia, X-linked

Wiskott-Aldrich syndrome

WAS-Related Disorders

WASF1

Neurodevelopmental disorder with absent language and variable seizures

WDFY3

WDPCP

Congenital heart defects, hamartomas of tongue

Bardet-Biedl Syndrome Overview

WDR11

Hypogonadotropic hypogonadism 14 with or without anosmia

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency

WDR19

Nephronophthisis 13

Senior-Loken syndrome 8

Cranioectodermal Dysplasia

Nephronophthisis

WDR26

Skraban-Deardorff syndrome

WDR26-Related Intellectual Disability

WDR35

Cranioectodermal dysplasia 2

Short-rib thoracic dysplasia 7 with or without polydactyly

Cranioectodermal Dysplasia

WDR37

Neurooculocardiogenitourinary syndrome

WDR45

Neurodegeneration with brain iron accumulation 5

Neurodegeneration with Brain Iron Accumulation Disorders Overview

Beta-Propeller Protein-Associated Neurodegeneration

WDR45B

Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

WDR62

Microcephaly 2, primary

WDR62 Primary Microcephaly

WDR73

Galloway-Mowat syndrome 1

WDR81

Cerebellar ataxia, mental retardation

Hydrocephalus, congenital

WFS1

Deafness, autosomal dominant 6/14/38

Wolfram syndrome 1

Wolfram-like syndrome, autosomal dominant

Hereditary Hearing Loss and Deafness Overview

WFS1 Wolfram Syndrome Spectrum Disorder

WHRN

Deafness, autosomal recessive 31

Usher syndrome, type 2D

Usher Syndrome Type II

Hereditary Hearing Loss and Deafness Overview

WNK1

Neuropathy, hereditary sensory and autonomic

Pseudohypoaldosteronism, type IIC

Hereditary Sensory and Autonomic Neuropathy Type II

Pseudohypoaldosteronism Type II

WNT1

Osteogenesis imperfecta, type XV

WNT10A

Odontoonychodermal dysplasia

Schopf-Schulz-Passarge syndrome

Tooth agenesis, selective

Hypohidrotic Ectodermal Dysplasia

WNT10B

Split-hand/foot malformation 6

Tooth agenesis, selective

WNT3

WNT4

Mullerian aplasia and hyperandrogenism

WNT5A

Robinow syndrome, autosomal dominant 1

Autosomal Dominant Robinow Syndrome

WNT7A

Fuhrmann syndrome

Ulna and fibula, absence of

WRAP53

Dyskeratosis congenita, autosomal recessive 3

Dyskeratosis Congenita

WRN

Werner syndrome

Werner Syndrome

WT1

Denys-Drash syndrome

Frasier syndrome

Meacham syndrome

Mesothelioma, somatic

Nephrotic syndrome, type 4

Wilms tumor, type 1

Wilms Tumor Predisposition

PAX6-Related Aniridia

WT1 Disorder

WWOX

Developmental and epileptic encephalopathy 28

Esophageal squamous cell carcinoma, somatic

Spinocerebellar ataxia, autosomal recessive 12

XIAP

Lymphoproliferative syndrome, X-linked

Lymphoproliferative Disease, X-Linked

XPA

Xeroderma pigmentosum, group A

Xeroderma Pigmentosum

XPC

Xeroderma pigmentosum, group C

Xeroderma Pigmentosum

XRCC4

Short stature, microcephaly

XYLT1

Desbuquois dysplasia 2

XYLT2

Spondyloocular syndrome

YAP1

Coloboma, ocular

YARS2

Myopathy, lactic acidosis

YIF1B

Kaya-Barakat-Masson syndrome

YWHAG

Developmental and epileptic encephalopathy 56

YY1

Gabriele-de Vries syndrome

Gabriele-de Vries Syndrome

ZAP70

Autoimmune disease, multisystem

Immunodeficiency 48

ZAP70-Related Combined Immunodeficiency

ZBTB18

Mental retardation, autosomal dominant 22

ZBTB20

Primrose syndrome

Primrose Syndrome

ZBTB24

Immunodeficiency-centromeric instability-facial anomalies syndrome 2

ZC3H14

Intellectual developmental disorder, autosomal recessive 56

ZC4H2

Wieacker-Wolff syndrome

Wieacker-Wolff syndrome, female-restricted

ZDHHC9

Mental retardation, X-linked syndromic

ZEB2

Mowat-Wilson syndrome

Mowat-Wilson Syndrome

ZFP57

Diabetes mellitus, transient neonatal 1

Diabetes Mellitus, 6q24-Related Transient Neonatal

ZFPM2

46XY sex reversal 9

Diaphragmatic hernia 3

Tetralogy of Fallot

ZFYVE26

Spastic paraplegia 15, autosomal recessive

Spastic Paraplegia 15

ZIC1

Structural brain anomalies with impaired intellectual development and craniosynostosis

ZIC2

Holoprosencephaly 5

Holoprosencephaly Overview

ZIC3

Congenital heart defects, nonsyndromic

Heterotaxy, visceral

VACTERL association, X-linked

ZMIZ1

Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies

ZMPSTE24

Mandibuloacral dysplasia with type B lipodystrophy

Restrictive dermopathy, lethal

ZMYND10

Ciliary dyskinesia, primary

Primary Ciliary Dyskinesia

ZMYND11

Mental retardation, autosomal dominant 30

ZNF335

Microcephaly 10, primary

ZNF423

Joubert syndrome 19

Nephronophthisis 14

Joubert Syndrome

Nephronophthisis

ZNF462

Weiss-Kruszka syndrome

Weiss-Kruszka Syndrome

ZNF469

Brittle cornea syndrome 1

ZNHIT3

PEHO syndrome

ADAMTS19

ADPRHL2

Neurodegeneration, childhood-onset

AGR2

ATP5MD

BCKDK

Branched-chain keto acid dehydrogenase kinase deficiency

BRD4

Cornelia de Lange Syndrome

C15orf41

Dyserythropoietic anemia, congenital

CCDC114

Ciliary dyskinesia, primary

CCDC151

Ciliary dyskinesia, primary

CD2AP

Glomerulosclerosis, focal segmental

CLCNKA

Bartter syndrome, type 4b

CNKSR2

Intellectual developmental disorder, X-linked

CSNK1E

Cxorf56

EMC10

Neurodevelopmental disorder with dysmorphic facies and variable seizures

EMX2

Schizencephaly

EXOC3L2

GOLGA2

HACD1

IMPAD1

Chondrodysplasia with joint dislocations, GPAPP type

IPO8

VISS syndrome

KARS

Deafness, autosomal recessive 89

Deafness, congenital

Leukoencephalopathy, progressive

NUDT2

PIH1D3

Ciliary dyskinesia, primary

PPP1R21

Neurodevelopmental disorder with hypotonia, facial dysmorphism

RAB11A

RHOA

Ectodermal dysplasia with facial dysmorphism and acral, ocular

SCAMP5

SHANK1

SHROOM4

Intellectual developmental disorder, X-linked syndromic

SLC26A7

TAOK1

Developmental delay with or without intellectual impairment or behavioral abnormalities

TTC26

Biliary, renal

USP53

Cholestasis, progressive familial intrahepatic

VPS41

Spinocerebellar ataxia, autosomal recessive 29

WDR34

Short-rib thoracic dysplasia 11 with or without polydactyly

WDR60

Short-rib thoracic dysplasia 8 with or without polydactyly

ZNF711

Intellectual developmental disorder, X-linked 97