6q16 microdeletion syndrome
ORPHA:171829· ICD-10 Q93.5
Definition
A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal