ZFIN Human Disease: X-linked intellectual developmental disorder 109

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:	GARD:2378 OMIM:309548 ORDO:100973
Ontology:	Human Disease ( DOID:0080984 )

Relationships

is a type of:	syndromic X-linked intellectual disability X-linked recessive disease syndromic X-linked intellectual disability X-linked recessive disease Show first 5 Terms

OTHER X-linked intellectual developmental disorder 109 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AFF2	aff2	Intellectual developmental disorder, X-linked 109	309548

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None