Preferred Name

Fragile X Tremor/Ataxia Syndrome
Synonyms
Definitions

An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age.

ID

http://purl.obolibrary.org/obo/NCIT_C126566

code

C126566

Contributing_Source

Cellosaurus

definition

An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age.

in_subset

http://purl.obolibrary.org/obo/NCIT_C165258

label

Fragile X Tremor/Ataxia Syndrome

Preferred_Name

Fragile X Tremor/Ataxia Syndrome

prefixIRI

NCIT:C126566

prefLabel

Fragile X Tremor/Ataxia Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C1839780

subClassOf

http://purl.obolibrary.org/obo/NCIT_C176696

http://purl.obolibrary.org/obo/NCIT_C28193

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