Conditions / Genetic
chromosome 17q12 duplication syndrome
info · Genetic · ICD-10: Q92.3
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.
Signs and symptoms
- Intellectual disability
- Axial hypotonia
- Facial hypotonia
- Downslanted palpebral fissures
- Brachydactyly
- Esophageal atresia
- Seizure
- Deeply set eye
- Cleft soft palate
- Broad thumb
Also known as: 17q12 microduplication syndrome; trisomy 17q12