Синдром Барде-Бідля
ORPHA:110· ICD-10 Q87.8· Bardet-Biedl syndrome
Визначення(English summary)
A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive, Oligogenic
- Вік початку
- Antenatal, Childhood, Infancy, Neonatal