ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 21

OBO ID: DOID:0111155

Term Name:	autosomal recessive spinocerebellar ataxia 21		Search Ontology:
Synonyms:	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy SCAR21
Definition:	An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/26581903
References:	OMIM:616719 ORDO:466794
Ontology:	Human Disease ( DOID:0111155 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCYL1	scyl1	Spinocerebellar ataxia, autosomal recessive 21	616719

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None