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Dworschak-Punetha neurodevelopmental syndrome

Summary

Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DWOPNED, NOV, NOVP, PLEXIN-A1, PLXN1, PLXNA1
    Summary: plexin A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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