Conditions / Genetic
chromosome Xp11.23-p11.22 duplication syndrome
info · Genetic · ICD-10: Q99.8
A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region.
Signs and symptoms
- Intellectual disability
- Delayed speech and language development
- Precocious puberty
- EEG abnormality
- Generalized non-motor (absence) seizure
- Widened subarachnoid space
- Smooth philtrum
- Thin vermilion border
- Poor speech
- Hypotonia
Also known as: microduplication Xp11.22-p11.23 syndrome; trisomy Xp11.22-p11.23