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 )

Relationships
is a type of: chromosomal duplication syndrome