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GTR Home > Conditions/Phenotypes > Neonatal diabetes mellitus with congenital hypothyroidism

Neonatal diabetes mellitus with congenital hypothyroidism

Synonyms
NDH SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NDH, ZNF515, GLIS3
    Summary: GLIS family zinc finger 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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