FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked spinocerebellar ataxia 1 ID (Ontology) DOID:0111829 (Human Disease)
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.
Also Known As "SCAX1" ; "X-linked progressive cerebellar ataxia"
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 Genes
 X-linked spinocerebellar ataxia 1       1
 for disease ribbon | X-linked spinocerebellar ataxia 1       1
 model of | X-linked spinocerebellar ataxia 1       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
X-linked hereditary ataxia      |
 |__X-linked cerebellar ataxia__|
                                X-linked spinocerebellar ataxia 1  1 rec.
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Is a X-linked recessive disease
X-linked cerebellar ataxia
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Synonyms
  • "SCAX1" EXACT OMO:0003012
    "X-linked progressive cerebellar ataxia" EXACT
Secondary IDs
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MIM:302500
ORDO:1175