Term Name: | autosomal recessive spinocerebellar ataxia 19 |
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Synonyms: | Lichtenstein-Knorr syndrome, SCAR19 |
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. |
Ontology: | Human Disease [DOID:0080065] ( DOID:0080065 ) |