Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder affecting the vitreous and retina, characterized by developmental ano...

Autosomal dominant wooly hair (ADWH) is characterized by hair that is woolly, coarse, slow-growing, and dry. This condition is associated with variant...

Autosomal erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that leads to an accumulation of protoporphyrin i...

Autosomal recessive agammaglobulinemia 1 is a primary immunodeficiency that primarily affects the immune system, leading to markedly reduced or absent...

Autosomal recessive Alport syndrome is a genetic condition that predominantly affects the kidneys, ears, and eyes. It is caused by mutations in both c...

Autosomal recessive amelia is a rare genetic condition characterized by the absence of upper limbs and significant underdevelopment of the lower limbs...

Autosomal recessive ataxia, Beauce type is a rare condition that affects the cerebellum, leading to progressive difficulties with balance, coordinatio...

autosomal recessive ataxia due to PEX10 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

autosomal recessive ataxia due to PEX16 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

autosomal recessive ataxia due to PEX2 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical informatio...

Autosomal recessive ataxia due to ubiquinone deficiency is a childhood-onset neurological condition in which impaired production of coenzyme Q10 disru...

autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect is an extremely rare condition. Because few cases have been doc...

Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy primarily caused by variants in the BEST1 gene. This condition manifests as cen...

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

Autosomal recessive centronuclear myopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Autosomal recessive cerebellar ataxia represents a heterogeneous group of neurological disorders that primarily affect the cerebellum and spinal cord....

autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome is an extremely rare condition. Because few cases have been docume...

Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome is an extremely rare condition. Because few cases ha...

Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a very rare inherited neurological condition that primarily affects the cerebellu...

Autosomal recessive cerebellar ataxia with late-onset spasticity is an extremely rare condition. Because few cases have been documented, detailed clin...