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 encompassing approximately 9 genes, including the SH2B1 gene. [ ]

Synonyms: distal 16p11.2 microdeletion syndrome

This is just here as a test because I lose it

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DO_rare_slim

created by

elvira

creation date

2015-09-28T16:35:34Z

has obo namespace

disease_ontology

id

DOID:0060398

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