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Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia

Summary

Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) is an autosomal recessive disorder characterized by these features and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection, the latter of which may be associated with lymphopenia. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum (Muffels et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: A-116A10.1, APPBP1, HPP1, NEDFIH, ula-1, NAE1
    Summary: NEDD8 activating enzyme E1 subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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