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GTR Home > Conditions/Phenotypes > White-Kernohan syndrome

White-Kernohan syndrome

Synonyms
GLOBAL DEVELOPMENTAL DELAY, HYPOTONIA, AND CHARACTERISTIC FACIAL FEATURES

Summary

White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DDBA, UV-DDB1, WHIKERS, XAP1, XPCE, XPE, XPE-BF, DDB1
    Summary: damage specific DNA binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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