ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 14

OBO ID: DOID:0080058

Term Name:	autosomal recessive spinocerebellar ataxia 14		Search Ontology:
Synonyms:	SCAR14
Definition:	An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/23236289
References:	OMIM:615386
Ontology:	Human Disease ( DOID:0080058 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 14 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SPTBN2	sptbn2	Spinocerebellar ataxia, autosomal recessive 14	615386

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None