Disease Directory

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a hereditary muscle disorder that primarily weakens the large muscles around the...

Autosomal dominant limb-girdle muscular dystrophy type 1G (LGMD1G) is characterized by adult-onset, progressive weakness primarily affecting the pelvi...

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is characterized by slowly progressive proximal muscle weakness, initially affectin...

autosomal dominant macrothrombocytopenia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia is a genetic kidney disorder that leads to a gradual decline in kidne...

This condition is caused by genetic variants in the IFNGR1 gene, leading to a partial deficiency in the interferon-gamma receptor. This deficiency imp...

autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency is an extremely rare condition. Because few...

Autosomal dominant mitochondrial myopathy with exercise intolerance is caused by variants in the CHCHD10 gene. This condition is characterized by decr...

Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia and myoglobinuria, often triggered by factors such as...

autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome is an extremely rare condition. Because few cas...

autosomal dominant nebulin-related myopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by brief, stereotyped clusters of nocturnal motor seiz...

Autosomal dominant nocturnal frontal lobe epilepsy 1 is a genetic form of epilepsy in which seizures arise from the frontal regions of the brain and t...

Autosomal dominant nocturnal frontal lobe epilepsy 2 (ADNFLE2) is a form of epilepsy characterized by nocturnal seizures that often manifest as atypic...

Autosomal dominant nocturnal frontal lobe epilepsy 3 (ADNFLE3) is caused by mutations in the CHRNB2 gene. This condition is characterized by seizures...

Autosomal dominant nocturnal frontal lobe epilepsy 4 is a neurological condition characterized by seizures that occur during sleep, primarily affectin...

Autosomal dominant nocturnal frontal lobe epilepsy 5 (ENFL5) is a neurological condition in which affected individuals experience brief seizures that...

Autosomal dominant non-syndromic intellectual disability is an extremely rare condition. Because few cases have been documented, detailed clinical inf...

Autosomal dominant nonsyndromic hearing loss is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal dominant nonsyndromic hearing loss 1 is a genetic condition that primarily affects hearing and blood platelet function. It is caused by muta...