Disease Directory

Autosomal recessive distal osteolysis syndrome is characterized by early-onset distal osteolysis, leading to severe resorption of the hands and feet,...

autosomal recessive distal renal tubular acidosis is an extremely rare condition. Because few cases have been documented, detailed clinical informatio...

Autosomal recessive distal spinal muscular atrophy 1 is a rare genetic motor neuron disease that primarily affects infants, presenting with severe res...

Autosomal recessive distal spinal muscular atrophy 2 is a rare neuromuscular condition that primarily affects the distal muscles of the limbs. It is c...

autosomal recessive distal titinopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limite...

autosomal recessive dyskeratosis congenita 4 is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal recessive early-onset Parkinson disease 23 is a neurodegenerative condition caused by mutations in the VPS13C gene that disrupt normal neuro...

Autosomal recessive early-onset Parkinson disease 6 is primarily caused by mutations in the PINK1 gene. This condition is characterized by early onset...

Autosomal recessive early-onset Parkinson disease 7 is a neurological condition characterized by motor symptoms that typically appear at a relatively...

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

autosomal recessive extra-oral halitosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

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...