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GTR Home > Conditions/Phenotypes > Retinal dystrophy with leukodystrophy

Retinal dystrophy with leukodystrophy

Summary

Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism (Ferdinandusse et al., 2017). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: RDLKD, ACBD5
    Summary: acyl-CoA binding domain containing 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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