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Chilton-Okur-Chung neurodevelopmental syndrome

Summary

Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CHOCNS, MRCKB, CDC42BPB
    Summary: CDC42 binding protein kinase beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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