autosomal recessive spinocerebellar ataxia 6

An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.

Signs and symptoms

• Clumsiness
• Delayed speech and language development
• Dysmetria
• Short stature
• Cerebellar atrophy
• Gait ataxia
• Hypotonia
• Ataxia
• Generalized hypotonia
• Motor delay

Also known as: SCAR6; autosomal recessive spinocerebellar ataxia type 6; infantile-onset autosomal recessive nonprogressive cerebellar ataxia