Conditions / Genetic
chromosome 5p13 duplication syndrome
info · Genetic · ICD-10: Q92.3
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region.
Signs and symptoms
- Intellectual disability
- Global developmental delay
- Hypotonia
- Sleep disturbance
- Blepharophimosis
- Long fingers
- High palate
- Small for gestational age
- Short philtrum
- Low-set ears
Also known as: 5p13 microduplication syndrome; trisomy 5p13