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Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities

Summary

Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities (NEDMSB) is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities (Alkhater et al., 2018; Dafsari et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDMSB, PI4KII, PIK42A, PI4K2A
    Summary: phosphatidylinositol 4-kinase type 2 alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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