Term Name: | autosomal recessive spinocerebellar ataxia 20 |
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Synonyms: | SCAR20 |
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. |
Ontology: | Human Disease [DOID:0080066] ( DOID:0080066 ) |