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Metadata
ID	DOID:0070515
Name	chromosome 16p11.2 deletion syndrome, 593-kb
Definition	A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). https://pubmed.ncbi.nlm.nih.gov/19914906/, https://www.ncbi.nlm.nih.gov/books/NBK11167/
Xrefs	GARD:10740 MIM:611913 ORDO:261197 UMLS_CUI:C3150154 UMLS_CUI:C4273657
Subsets	DO_rare_slim
Synonyms	Proximal 16p11.2 microdeletion syndrome [EXACT]
Parent Relationships	is_a chromosomal deletion syndrome