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GTR Home > Conditions/Phenotypes > Keratoderma-ichthyosis-deafness syndrome, autosomal recessive

Keratoderma-ichthyosis-deafness syndrome, autosomal recessive

Summary

Autosomal recessive keratoderma-ichthyosis-deafness syndrome (KDIDAR) is characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Other variable features include contractures, mild bleeding diathesis, and psychomotor retardation (Gruber et al., 2017). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KDIDAR, PFIC12, VPS33B
    Summary: VPS33B late endosome and lysosome associated

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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