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GTR Home > Conditions/Phenotypes > Vertebral, cardiac, renal, and limb defects syndrome 2

Vertebral, cardiac, renal, and limb defects syndrome 2

Synonyms
CONGENITAL NAD DEFICIENCY DISORDER 2; KYNURENINASE DEFICIENCY, COMPLETE

Summary

Vertebral, cardiac, renal, and limb defects syndrome-2 (VCRL2) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017). For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KYNUU, VCRL2, KYNU
    Summary: kynureninase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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