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Metadata
ID DOID:0060400
Name chromosome 16p12.2-p11.2 deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.
https://pubmed.ncbi.nlm.nih.gov/19449418
Xrefs

ICD10CM:Q93.5

MIM:613604

ORDO:261211

Subsets

DO_rare_slim

Synonyms

16p11.2-p12.2 microdeletion syndrome [EXACT]

16p11.2p12.2 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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