| Metadata | |
|---|---|
| ID | DOID:0080984 |
| Name | X-linked intellectual developmental disorder 109 |
| 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. https://pubmed.ncbi.nlm.nih.gov/21739600/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
fragile site on chromosome Xq28 [EXACT] Fragile XE syndrome [EXACT] |
| Parent Relationships |