Conditions / Genetic
chromosome 16p11.2 deletion syndrome, 593-kb
info · Genetic
A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
Signs and symptoms
- Delayed speech and language development
- Global developmental delay
- Hypertelorism
- Feeding difficulties in infancy
- Midface retrusion
- Broad forehead
- Motor delay
- Macrocephaly
- Micrognathia
- Seizure
Also known as: Proximal 16p11.2 microdeletion syndrome