chromosome 16p11.2 duplication syndrome

info · Genetic · ICD-10: Q92.3

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.

Signs and symptoms

Delayed speech and language development
Intellectual disability
Smooth philtrum
Microcephaly
Motor delay
Short stature
Deeply set eye
Sparse eyebrow
Flat face
Microtia

Also known as: proximal 16p11.2 microduplication syndrome; proximal dup(16)(p11.2); proximal trisomy 16p11.2