autosomal recessive spinocerebellar ataxia 29

An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in

An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14.

Signs and symptoms

• Peripheral axonal neuropathy
• Inability to walk
• Ataxia
• Generalized dystonia
• Dysarthria
• Global developmental delay
• Optic disc pallor
• Hypotonia
• Motor delay
• Intellectual disability

Also known as: SCAR29