Conditions / Genetic
chromosome 17p13.3 duplication syndrome
info · Genetic · ICD-10: Q92.3
A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.
Signs and symptoms
- Global developmental delay
- Hypotonia
- Thin upper lip vermilion
- Low hanging columella
- Synophrys
- Upslanted palpebral fissure
- Large hands
- Short stature
- Autism
- High palate
Also known as: 17p13.3 duplication syndrome; 17p13.3 microduplication syndrome; chromosome 17p13.3 centromeric duplication syndrome; trisomy 17p13.3