Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

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A rare genetic disease characterized by intrauterine growth retardation permanent neonatal diabetes mellitus and congenital hypothyroidism. Additional manifestations include congenital glaucoma hepatic disease (hepatitis fibrosis and cirrhosis) polycystic kidneys exocrine pancreatic dysfunction sensorineural hearing impairment developmental delay and mild facial dysmorphism (such as flat nasal bridge epicanthal folds long philtrum and low-set ears) among others.

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 July 2024

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Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome?

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