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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 ATP2B3 on chromosome Xq28.
https://www.ncbi.nlm.nih.gov/pubmed/10797423, https://www.ncbi.nlm.nih.gov/pubmed/22912398
Xrefs

OMIM:302500

ORDO:1175

Synonyms

SCAX1 [EXACT]

X-linked progressive cerebellar ataxia [EXACT]

Parent Relationships

is_a X-linked cerebellar ataxia

is_a X-linked recessive disease

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