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 2 ID (Ontology) DOID:0111830 (Human Disease)
Definition An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance.
Also Known As "cerebellar ataxia with extrapyramidal involvement early-onset" ; "SCAX2"
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Spanning Tree (Parents/Children)
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  X-linked hereditary ataxia
   |__X-linked cerebellar ataxia
       |__X-linked spinocerebellar ataxia 2
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Is a X-linked cerebellar ataxia
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Synonyms
  • "cerebellar ataxia with extrapyramidal involvement early-onset" EXACT
    "SCAX2" EXACT OMO:0003012
Secondary IDs
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GARD:9978
MIM:302600