ZFIN Human Disease: autosomal recessive spinocerebellar ataxia 20

OBO ID: DOID:0080066

Term Name:	autosomal recessive spinocerebellar ataxia 20		Search Ontology:
Synonyms:	SCAR20
Definition:	An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. https://www.ncbi.nlm.nih.gov/pubmed/25439728
References:	OMIM:616354
Ontology:	Human Disease ( DOID:0080066 )

Relationships

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

OTHER autosomal recessive spinocerebellar ataxia 20 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SNX14	snx14	Spinocerebellar ataxia, autosomal recessive 20	616354

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None