| Metadata | |
|---|---|
| ID | DOID:0080066 |
| Name | autosomal recessive spinocerebellar ataxia 20 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25439728 |
| Xrefs | |
| Synonyms |
SCAR20 [EXACT] |
| Parent Relationships |