Inverted duplicated chromosome 15 syndrome
ORPHA:3306· ICD-10 Q99.8
Definition
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Neonatal