autosomal recessive spinocerebellar ataxia 20

An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SN

An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14.

Signs and symptoms

• Coarse facial features
• Thick vermilion border
• Intellectual disability
• Delayed gross motor development
• Delayed fine motor development
• Bulbous nose
• Delayed speech and language development
• Delayed early-childhood social milestone development
• Hypotonia
• Cerebellar atrophy

Also known as: SCAR20