Conditions / Genetic
chromosome 22q11.2 microduplication syndrome
info · Genetic · ICD-10: Q92.3
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.
Signs and symptoms
- Velopharyngeal insufficiency
- Epicanthus
- Microcephaly
- Downslanted palpebral fissures
- Delayed speech and language development
- Hypotonia
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
- Specific learning disability
Also known as: 22q11.2 microduplication syndrome; duplication 22q11.2; trisomy 22q11.2