Disease Directory

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

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

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

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

autosomal recessive combined immunodeficiency due to IL6R deficiency is an extremely rare condition. Because few cases have been documented, detailed...

autosomal recessive combined immunodeficiency due to complete IL6ST deficiency is an extremely rare condition. Because few cases have been documented,...

autosomal recessive combined immunodeficiency due to partial IL6ST deficiency is an extremely rare condition. Because few cases have been documented,...

autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction is an extremely rare condition. Because few cases have been document...

Autosomal recessive complex spastic paraplegia type 9B is a neurological movement disorder that combines leg stiffness, weakness, and intellectual imp...

autosomal recessive congenital cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Autosomal recessive congenital ichthyosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is lim...