Autosomal recessive faciodigitogenital syndrome is a very rare condition characterized by short stature, facial dysmorphism, hand abnormalities, and s...

Autosomal recessive familial Mediterranean fever is an inherited inflammatory disorder that primarily affects individuals through episodes of inflamma...

autosomal recessive frontotemporal pachygyria is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal recessive humeroradial synostosis is a rare skeletal condition characterized by the fusion of the humerus and radius bones in the forearm. A...

autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius is an extremely rare condition. Because few cases have been docume...

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is characterized by episodes of hyperinsulinemic hypoglycemia. Clinical features commonly...

autosomal recessive hyperinsulinism due to SUR1 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical i...

Autosomal recessive hypohidrotic ectodermal dysplasia (AR-HED) is a rare disorder characterized by developmental abnormalities affecting the skin, swe...

Autosomal recessive hypophosphatemic rickets is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal recessive inherited pseudoxanthoma elasticum is a multisystem condition that primarily affects the skin, eyes, and cardiovascular system. It...

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

Autosomal recessive juvenile Parkinson disease 2 is a group of disorders characterized by impaired motor control including bradykinesia, rigidity, tre...

Autosomal recessive Kenny-Caffey syndrome is a genetic condition primarily affecting skeletal development and parathyroid function. It is caused by mu...

autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is an extremely rare condition. Because few cases have been docu...

Autosomal recessive limb-girdle muscular dystrophy is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

Autosomal recessive limb-girdle muscular dystrophy type 2A is a form of muscular dystrophy that primarily affects the muscles around the shoulders and...

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a genetic muscle disorder that primarily weakens the large muscles around the h...

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a neuromuscular condition that primarily weakens the muscles around the hips an...

Autosomal recessive limb-girdle muscular dystrophy type 2D is a muscular disorder that primarily affects the shoulder and pelvic girdle muscles, leadi...

Autosomal recessive limb-girdle muscular dystrophy type 2E is a neuromuscular condition characterized by progressive weakness of the pelvic and should...