autosomal recessive spinocerebellar ataxia 21

Summary

DOID:0111155 - autosomal recessive spinocerebellar ataxia 21

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.

Synonyms: acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, autosomal recessive spinocerebellar ataxia 21 with hepatopathy, SCAR21

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: scyl1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

MIM:

MIM:616719 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

MIM:616719 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)