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fragile X-associated tremor/ataxia syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked hereditary ataxia
External Links
- Disease Ontology
- DOID:0050879
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
