FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spinocerebellar ataxia type 27B ID (Ontology) DOID:0061137 (Human Disease)
Definition An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33.
Also Known As "SCA27B"
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 Genes
 spinocerebellar ataxia type 27B       1
 for disease ribbon | spinocerebellar ataxia type 27B       1
 model of | spinocerebellar ataxia type 27B       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
cerebellar ataxia___________|
                            autosomal dominant cerebellar ataxia
                             |__spinocerebellar ataxia type 27B  1 rec.
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Is a autosomal dominant cerebellar ataxia
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Synonyms
  • "SCA27B" EXACT OMO:0003012
Secondary IDs
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MIM:620174