Синдром Сміта-Магеніса
ORPHA:819· ICD-10 Q93.5· Smith-Magenis syndrome
Визначення(English summary)
A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood, Infancy, Neonatal