Home›🧬 Genetic Disorders

🧬 Genetic Disorders

Conditions caused by abnormalities in genes or chromosomes.

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275 conditions found

12p12.1 microdeletion syndrome

16q22 deletion syndrome

1p31p32 microdeletion syndrome

1q41q42 microdeletion syndrome

46,XY difference of sex development of endocrine origin

49,XXXYY syndrome

4q25 proximal deletion syndrome

6q16 microdeletion syndrome

8q24.3 microdeletion syndrome

ABetaA21G amyloidosis

Acute myeloid leukaemia with myelodysplasia-related features

Adenylosuccinate lyase deficiency

Adult-onset Steinert myotonic dystrophy

Alar cartilages hypoplasia-coloboma-telecanthus syndrome

Alkaline ceramidase 3 deficiency

Alternating hemiplegia of childhood

Aniridia-cerebellar ataxia-intellectual disability syndrome

Aniridia-ptosis-intellectual disability-familial obesity syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

Aprosencephaly/atelencephaly spectrum

Arterial tortuosity syndrome

Atypical hemolytic uremic syndrome

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant multiple pterygium syndrome

Autosomal dominant myosin storage myopathy

Autosomal dominant spastic ataxia type 1

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 9B

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive limb-girdle muscular dystrophy, type 28

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive spastic paraplegia type 59

Axenfeld-Rieger syndrome

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

BAG3-related myofibrillar myopathy

Baller-Gerold syndrome

Bardet-Biedl syndrome

Basel-Vanagaite-Smirin-Yosef syndrome

Brachydactyly type C

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Campomelic dysplasia

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Cataract-nephropathy-encephalopathy syndrome

Central polydactyly

Cerebrooculonasal syndrome

Cerebrotendinous xanthomatosis

Charcot-Marie-Tooth disease type 2P

Charcot-Marie-Tooth disease type 4C

CHARGE syndrome

Chronic visceral acid sphingomyelinase deficiency

CIDEC-related familial partial lipodystrophy

Class I glucose-6-phosphate dehydrogenase deficiency

Cleft palate-lateral synechia syndrome

CNTNAP2-related developmental and epileptic encephalopathy

Coloboma of inferior eyelid

Combined immunodeficiency due to ZAP70 deficiency

Combined immunodeficiency with normal Ig and poor specific antibody response

Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 7

Complete hydatidiform mole

Congenital disorder of glycosylation with developmental anomaly

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital muscular dystrophy due to dystroglycanopathy

Congenital muscular dystrophy with hyperlaxity

Congenital or early infantile CACH syndrome

Congenital primary lymphedema of Gordon

Congenital secondary polycythemia

Corneal dystrophy-perceptive deafness syndrome

Craniostenosis with strabismus

Developmental defect of the eye

Digestive tract malformation

Dincsoy-Salih-Patel syndrome

Disorder of bilirubin metabolism and excretion

Distal 17p13.1 microdeletion syndrome

Distal duplication 2q syndrome

Distal hereditary motor neuropathy type 1

Distal spinal muscular atrophy type 3

DNAJB4-related distal myopathy

Duodenal atresia

Dwarfism-tall vertebrae syndrome

Dyssegmental dysplasia, Silverman-Handmaker type

EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Encephalopathy due to sulfite oxidase deficiency

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex due to BP230 deficiency

Erythropoietic porphyria

EVEN-plus syndrome

Familial chylomicronemia syndrome

Familial intrahepatic cholestasis

Familial isolated café-au-lait macules

Familial isolated hyperparathyroidism

Familial nonmedullary thyroid carcinoma

Familial pterygium of the conjunctiva

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial thrombomodulin anomalies

Familial visceral myopathy

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Feingold syndrome type 2

Fish-eye disease

Focal palmoplantar keratoderma with joint keratoses

Frank-Ter Haar syndrome

Genetic cardiac rhythm disease

Genetic dementia

Genetic digestive tract malformation

Genetic renal tumor

Genetic syndrome with limb reduction defects

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

Global developmental delay-facial dysmorphism-atrial septal defect syndrome

Growth retardation-mild developmental delay-chronic hepatitis syndrome

Hallermann-Streiff syndrome

Heme oxygenase-1 deficiency

Hemifacial myohyperplasia

Hemoglobin C disease

Hereditary angioedema with normal C1Inh

Hereditary hypercarotenemia and vitamin A deficiency

Hereditary isolated aplastic anemia

Hereditary renal hypouricemia

Hereditary sensory and autonomic neuropathy with deafness and global delay

Hermansky-Pudlak syndrome type 8

Hirschsprung disease

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Huriez syndrome

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Immunodeficiency by defective expression of MHC class II

Inherited digestive cancer-predisposing syndrome

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited isolated arrhythmogenic cardiomyopathy

Isolated growth hormone deficiency type IV

Isolated hereditary congenital facial paralysis

Isolated sedoheptulokinase deficiency

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Kyphoscoliotic Ehlers-Danlos syndrome

Larsen-like syndrome, B3GAT3 type

Late-onset distal myopathy, Markesbery-Griggs type

Lens position anomaly

Lethal infantile mitochondrial myopathy

Low oxygen affinity alpha chain hemoglobin disease

Lysosomal glycogen storage disease

Macular coloboma-cleft palate-hallux valgus syndrome

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

Malformation syndrome with odontal and/or periodontal component

Mandibuloacral dysplasia

Marfan syndrome type 2

Marshall-Smith syndrome

Maternal uniparental disomy of chromosome 4 syndrome

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Methylcobalamin deficiency type cblG

Microphthalmia-brain atrophy syndrome

Mild hemophilia A

MIR140-related spondyloepiphyseal dysplasia

Mitochondrial oxidative phosphorylation disorder

Mixed phenotype acute leukemia

Monosomy 22 syndrome

Moore-Federman syndrome

Moyamoya disease with early-onset achalasia

Mucinous cystadenoma of childhood

Muenke syndrome

Multilocular cystic renal neoplasm of low malignant potential

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple endocrine neoplasia type 2B

Neonatal ichthyosis-sclerosing cholangitis syndrome

Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect

Neurooculocardiogenitourinary syndrome

Non-immune hydrops fetalis

Non-syndromic limb reduction defect

Noonan syndrome with multiple lentigines

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Central polydactyly of toes

OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect

OBSOLETE: Familial pseudohyperkalemia type 2

OBSOLETE: Genetic muscular channelopathy

OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome

Oculodental syndrome, Rutherfurd type

Okihiro syndrome due to a point mutation

Oromandibular-limb anomalies syndrome

Overgrowth syndrome with 2q37 translocation

Palmoplantar keratoderma, Nagashima type

Partial deletion of chromosome 16 syndrome

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of the short arm of chromosome 2 syndrome

Partial duplication of chromosome 17 syndrome

Partial duplication of the long arm of chromosome 10 syndrome

Peroxisomal acyl-CoA oxidase deficiency

Phakomatosis cesioflammea

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PIBIDS syndrome

Postaxial polydactyly type B

Postaxial polydactyly-dental and vertebral anomalies syndrome

PPARG-related familial partial lipodystrophy

Precursor B-cell acute lymphoblastic leukemia

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Primary lymphedema without systemic or visceral involvement

Progeria-short stature-pigmented nevi syndrome

Progeroid syndrome, Petty type

Proteus-like syndrome

Pseudohypoaldosteronism type 2A

Pterin-4 alpha-carbinolamine dehydratase deficiency

Pure hair and nail ectodermal dysplasia

Qualitative or quantitative defects of myotubularin

Rare disease with glaucoma as a major feature

Rare disorder involving multiple structures of the eye

Rare disorder with corneal involvement as a major feature

Rare genetic diabetes mellitus

Rare genetic eyelid malposition disorder

Rare genetic non-progressive retinal vasculopathy

Rare genetic venous malformation

Rare infertility

Rare progressive predominantly macular disorder

Renal tubular dysgenesis due to twin-twin transfusion

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Reunion Island Larsen-like syndrome

Rothmund-Thomson syndrome type 1

S-adenosylhomocysteine hydrolase deficiency

Say-Barber-Miller syndrome

Secondary early-onset glaucoma of genetic origin

Selective intrauterine growth restriction

Severe hemophilia B

Slender bone dysplasia

Spastic paraplegia type 7

Spastic paraplegia-neuropathy-poikiloderma syndrome

Spinal muscular atrophy with respiratory distress type 2

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 14

Spondyloepiphyseal dysplasia tarda, Kohn type

Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

Spondylometaphyseal dysplasia, Golden type

Spondylometaphyseal dysplasia, Schmidt type

Stiff skin syndrome

Syndrome with combined immunodeficiency

Syndromic diaphragmatic or abdominal wall malformation

Syndromic low resistance capillary malformation

SYNGAP1-related developmental and epileptic encephalopathy

Tibial muscular dystrophy

Transverse vaginal septum

Trigonocephaly-short stature-developmental delay syndrome

Triphalangeal thumbs-brachyectrodactyly syndrome

Trisomy 5p syndrome

Trisomy 8p syndrome

TRPV4-related bone disorder

Unclassified genetic skin disorder

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

White platelet syndrome

X-linked Charcot-Marie-Tooth disease type 1

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

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