Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
ORPHA:521432· ICD-10 K83.1
Definition
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal