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Human Disease

fragile X-associated tremor/ataxia syndrome

Term ID
DOID:0050879
Synonyms
  • FXTAS syndrome
Definition
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (4)
References
Ontology
Human Disease   ( DOID:0050879 )
Relationships
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Genes Involved
Zebrafish Models