fragile X-associated tremor/ataxia syndrome (DOID:0050879)
Alliance: disease page
Synonyms: FXTAS syndrome
Alt IDs: OMIM:300623
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.