Синдром Уайта-Саттона
ORPHA:468678· ICD-10 Q87.0· White-Sutton syndrome
Визначення(English summary)
A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Infancy, Neonatal