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Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Summary

Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. Brain imaging tends to show thin corpus callosum and decreased white matter volume. Additional features such as seizures, cardiac defects, and behavioral abnormalities may also occur. The phenotype is variable (summary by Bina et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CDC68, FACTP140, NEDDFAC, SPT16, SPT16/CDC68, SUPT16H
    Summary: SPT16 homolog, facilitates chromatin remodeling subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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