OBO ID: DOID:0080984
Term Name: X-linked intellectual developmental disorder 109 Search Ontology:
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. https://pubmed.ncbi.nlm.nih.gov/21739600/
References:
Ontology: Human Disease   (DOID:0080984)
OTHER X-linked intellectual developmental disorder 109 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AFF2 Intellectual developmental disorder, X-linked 109 309548
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None