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DO Term : X-linked intellectual developmental disorder 109 [DOID:0080984] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
  • synonyms:
  • ORDO:100973,
  • GARD:2378,
  • fragile site on chromosome Xq28,
  • OMIM:309548,
  • 309548,
  • Fragile XE syndrome
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Ontology Term --> Direct parents