Term Name: autosomal recessive spinocerebellar ataxia 19
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 )

Relationships
is a type of: autosomal recessive cerebellar ataxia