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| Term | chromosome 16p11.2 duplication syndrome | ID (Ontology) | DOID:0060430 (Human Disease) |
| Definition | A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. | ||
| Also Known As | "proximal 16p11.2 microduplication syndrome" ; "proximal dup(16)(p11.2)" ; "proximal trisomy 16p11.2" | ||
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chromosomal disease |__chromosomal duplication syndrome |__chromosome 16p11.2 duplication syndrome |
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| Is a | chromosomal duplication syndrome | ||
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ICD10CM:Q92.3 MIM:614671 ORDO:370079 |
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