Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, often called KAT6A syndrome or Arboleda-Tham syndrome, is...

Autosomal dominant intermediate Charcot-Marie-Tooth disease is an extremely rare condition. Because few cases have been documented, detailed clinical...

autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is an extremely rare condition. Because few cases have been document...

Autosomal dominant Kenny-Caffey syndrome is a skeletal condition marked by distinctive bone changes and transient imbalances in calcium levels. It is...

Autosomal dominant keratitis is a hereditary condition characterized by opacification and vascularization of the cornea, often associated with macula...

Autosomal dominant keratitis-ichthyosis-hearing loss syndrome (often called KID syndrome) is a multisystem condition that primarily affects the skin,...

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a condition that primarily affects the muscles around the pelvic girdle, with pa...

autosomal dominant limb-girdle muscular dystrophy type 1E (DES) is an extremely rare condition. Because few cases have been documented, detailed clini...

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...