Human genes for autosomal recessive spinocerebellar ataxia 19
Autosomal recessive spinocerebellar ataxia 19 [DOID:0080065]
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.
Synonyms: autosomal recessive spinocerebellar ataxia 19, DOID:0080065, Lichtenstein-Knorr syndrome, LichtensteinKnorr syndrome, Lichtenstein-Knorr disease ...