Term Name: | fragile X-associated tremor/ataxia syndrome |
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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. |
Ontology: | Human Disease [DOID:0050879] ( DOID:0050879 ) |