Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Orpha code: 521432OMIM code:

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.

Disease data

Classification

Disease

ORPHA code

521432

OMIM code

ICD10 code

K83.1

ICD11 code

*Soruce

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No additional description.

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Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Description of the disease *

Extended description of the disease