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FRAXE

Synonyms
FRAXE intellectual disability; Fragile XE syndrome; Intellectual developmental disorder, X-linked 109; Intellectual disability, X-linked, FRAXE type
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Intellectual developmental disorder-109 (MRX109) is characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). The disorder, which is associated with a fragile site on chromosome Xq28 (FRAXE), can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011). [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FMR2, FMR2P, FRAXE, MRX2, OX19, XLID109, AFF2
    Summary: ALF transcription elongation factor 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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