Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

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Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome?

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Clinical Trials

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