chromosome 16p11.2 duplication syndrome (DOID:0060430)
Alliance: disease page
Synonyms: proximal 16p11.2 microduplication syndrome; proximal dup(16)(p11.2); proximal trisomy 16p11.2
Alt IDs: OMIM:614671, ICD10CM:Q92.3, ORDO:370079
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.