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Metadata
ID DOID:0050879
Name fragile X-associated tremor/ataxia 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.
http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, http://omim.org/entry/300623, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256, https://www.ncbi.nlm.nih.gov/pubmed/18195136
Xrefs

OMIM:300623

Subsets

DO_FlyBase_slim

Synonyms

FXTAS syndrome [EXACT]

Parent Relationships

is_a X-linked hereditary ataxia

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