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X-linked intellectual developmental disorder 109
Summary
- Synonym
-
- Fragile XE syndrome
- fragile site on chromosome Xq28
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0080984
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
