Term Name: | X-linked intellectual developmental disorder 109 |
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Synonyms: | fragile site on chromosome Xq28, Fragile XE syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0080984] ( DOID:0080984 ) |