ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 19

OBO ID: DOID:0080065

Term Name:	autosomal recessive spinocerebellar ataxia 19		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia Show first 5 Terms

OTHER autosomal recessive spinocerebellar ataxia 19 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC9A1	slc9a1a slc9a1b	Lichtenstein-Knorr syndrome	616291

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None