Синдром мікроделеції 6q16
ORPHA:171829· ICD-10 Q93.5· 6q16 microdeletion syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Unknown
- Вік початку
- Antenatal, Infancy, Neonatal