Metadata | |
---|---|
ID | DOID:0080065 |
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 |