FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebellar ataxia type 47 ID (Ontology) DOID:0111743 (Human Disease)
Definition An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2.
Also Known As "PUM1-associated developmental disability-ataxia-seizure syndrome" ; "SCA47"
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 Genes
 cerebellar ataxia type 47       1
 for disease ribbon | cerebellar ataxia type 47       1
 model of | cerebellar ataxia type 47       1
Spanning Tree (Parents/Children)
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autosomal dominant disease
 |__autosomal dominant intellectual developmental disorder__
 |__autosomal dominant cerebellar ataxia____________________|
cerebellar ataxia                                           |
 |__autosomal dominant cerebellar ataxia____________________|
intellectual disability                                     |
 |__autosomal dominant intellectual developmental disorder__|
                                                            cerebellar ataxia type 47  1 rec.
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Is a autosomal dominant intellectual developmental disorder
autosomal dominant cerebellar ataxia
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Synonyms
  • "PUM1-associated developmental disability-ataxia-seizure syndrome" EXACT
    "SCA47" EXACT OMO:0003012
Secondary IDs
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MIM:620719
ORDO:589515