Term Name: | chromosome 16p11.2 duplication syndrome |
---|---|
Synonyms: | proximal 16p11.2 microduplication syndrome, proximal dup(16)(p11.2), proximal trisomy 16p11.2 |
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. |
Ontology: | Human Disease [DOID:0060430] ( DOID:0060430 ) |