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Metadata
ID	DOID:0111829
Name	X-linked spinocerebellar ataxia 1
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. https://www.ncbi.nlm.nih.gov/pubmed/10797423, https://www.ncbi.nlm.nih.gov/pubmed/22912398
Xrefs	OMIM:302500 ORDO:1175
Subsets	DO_rare_slim
Synonyms	SCAX1 [EXACT] X-linked progressive cerebellar ataxia [EXACT]
Parent Relationships	is_a X-linked cerebellar ataxia is_a X-linked recessive disease