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GTR Home > Conditions/Phenotypes > Gillessen-Kaesbach-Nishimura syndrome

Gillessen-Kaesbach-Nishimura syndrome

Summary

Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016). [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1L, DIBD1, GIKANIS, LOH11CR1J, ALG9
    Summary: ALG9 alpha-1,2-mannosyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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