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Neonatal diabetes mellitus with congenital hypothyroidism
rareA 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
- Identifiers
- MONDO:0012436 OMIM:610199Orphanet:79118
- Causal genes
- GLIS3
- Part of
- Neonatal diabetes mellitus
- Also known as
- NDH · NDH syndrome
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