ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 16

OBO ID: DOID:0080029

Term Name:	autosomal recessive spinocerebellar ataxia 16		Search Ontology:
Synonyms:	SCAR16
Definition:	An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/24113144
References:	OMIM:615768
Ontology:	Human Disease ( DOID:0080029 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STUB1	stub1	Spinocerebellar ataxia, autosomal recessive 16	615768

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None