OBO ID: DOID:0050879
Term Name: fragile X-associated tremor/ataxia syndrome Search Ontology:
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
is a type of:
OTHER fragile X-associated tremor/ataxia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FMR1 Fragile X tremor/ataxia syndrome 300623
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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