X-linked spinocerebellar ataxia 1

Summary

DOID:0111829 - X-linked spinocerebellar ataxia 1

Disease Ontology Definition:An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.

Synonyms: SCAX1, X-linked progressive cerebellar ataxia

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

: atp2b3

MIM:

MIM:302500 - SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1

MIM:302500 - SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1

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

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

Parent(s): X-linked cerebellar ataxia (is_a), X-linked recessive disease (is_a)