| Metadata | |
|---|---|
| ID | DOID:0080065 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080065 Copy |
| Name | autosomal recessive spinocerebellar ataxia 19 |
| Definition | An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/25205112 |
| Xrefs | |
| Synonyms |
Lichtenstein-Knorr syndrome [EXACT] SCAR19 [EXACT] |
| Parent Relationships |