autosomal recessive spinocerebellar ataxia 31

An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromoso

An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25.

Signs and symptoms

• Ataxia
• Delayed ability to walk
• Tremor
• Strabismus
• Optic atrophy
• Cerebellar hypoplasia
• Posterior atrophy of corpus callosum
• Muscle weakness
• Growth delay
• Axial hypotonia

Also known as: SCAR31