Growth delay-intellectual disability-hepatopathy syndrome

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Growth delay-intellectual disability-hepatopathy syndrome

A rare genetic syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis steatosis and/or cholestasis occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia zinc deficiency recurrent infections diabetes mellitus joint contractures skin and joint laxity hypervitaminosis D and sensorineural hearing loss.

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: // Data version October 2023.

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