autosomal recessive spinocerebellar ataxia 19

Term ID

DOID:0080065

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. https://www.ncbi.nlm.nih.gov/pubmed/25205112

References

• OMIM:616291

Ontology

Human Disease   ( DOID:0080065 )