Синдром Жубера з печінковою недостатністю
ORPHA:1454· ICD-10 Q04.3· Joubert syndrome with hepatic defect
Визначення(English summary)
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Neonatal