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Summary Literature (0)
DOID:0060398 - chromosome 16p11.2 deletion syndrome, 220-kb

Disease Ontology Definition:A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene.

Synonyms: distal 16p11.2 microdeletion syndrome,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013267 - distal 16p11.2 microdeletion syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chromosomal deletion syndrome (is_a)