Additional Disease Briefs

autosomal recessive ataxia, Beauce type

Also known as: ARCA1, SCAR8, SYNE1-related autosomal recessive cerebellar ataxia, ataxia, recessive, of Beauce, autosomal recessive ataxia Beauce type, autosomal recessive cerebellar ataxia type 1, autosomal recessive spinocerebellar ataxia 8, cerebellar ataxia, autosomal recessive, type 1, recessive ataxia of Beauce, spinocerebellar ataxia autosomal recessive 8, spinocerebellar ataxia, autosomal recessive 8, spinocerebellar ataxia, autosomal recessive type 8

autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect

autosomal recessive bestrophinopathy

Also known as: ARB, bestrophinopathy, bestrophinopathy, autosomal recessive, retinopathy, Burgess-Black type

autosomal recessive brachyolmia

Also known as: brachyolmia, Hobaek/Toledo type, brachyolmia, autosomal recessive

autosomal recessive centronuclear myopathy

Also known as: AR-CNM, centronuclear myopathy, autosomal recessive

autosomal recessive cerebellar ataxia

Also known as: ARCA, arca, cerebellar ataxia, autosomal recessive

autosomal recessive cerebellar ataxia – pyramidal signs – nystagmus – oculomotor apraxia syndrome

autosomal recessive cerebellar ataxia – pyramidal signs – nystagmus – oculomotor apraxia syndrome

autosomal recessive cerebellar ataxia with late-onset spasticity

Also known as: autosomal recessive cerebellar ataxia due to GBA2 deficiency

autosomal recessive cerebellar ataxia-blindness-deafness syndrome

Also known as: SCABD, SCAR3, autosomal recessive cerebellar ataxia - blindness - deafness, autosomal recessive spinocerebellar ataxia type 3, autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, spinocerebellar ataxia autosomal recessive 3, spinocerebellar ataxia with blindness and deafness, spinocerebellar ataxia, autosomal recessive 3