Joubert syndrome with hepatic defect
ORPHA:1454· ICD-10 Q04.3
Definition
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal