autosomal recessive spinocerebellar ataxia 20 (DOID:0080066)
Alliance: disease page
Synonyms: SCAR20
Alt IDs: OMIM:616354
Definition: 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.