Conditions / Genetic
chromosome 16p13.3 duplication syndrome
info · Genetic · ICD-10: Q92.3
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.
Signs and symptoms
- Global developmental delay
- Upslanted palpebral fissure
- Mild intellectual disability
- Proximal placement of thumb
- Protruding ear
- Camptodactyly
- Sandal gap
- Short thumb
- Cryptorchidism
- Short nose
Also known as: 16p13.3 microduplication syndrome; distal duplication 16p; distal trisomy 16p; telomeric duplication 16p