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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

OMIM:616291

Synonyms

Lichtenstein-Knorr syndrome [EXACT]

SCAR19 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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