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GTR Home > Conditions/Phenotypes > Desmosterolosis

Desmosterolosis

Summary

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001). [from OMIM]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DCE, Nbla03646, SELADIN1, seladin-1, DHCR24
    Summary: 24-dehydrocholesterol reductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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