Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
16p11.2-p12.2 microdeletion syndrome [EXACT] 16p11.2p12.2 microdeletion syndrome [EXACT] |
Parent Relationships |