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autosomal recessive spinocerebellar ataxia 19
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080065
- Mondo Disease Ontology
- OMIM
