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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with or without variable movement or behavioral abnormalities

Neurodevelopmental disorder with or without variable movement or behavioral abnormalities

Summary

Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms. Movement abnormalities have onset in childhood or adolescence. Other variable features include autism spectrum disorder or autistic features and epilepsy. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DYT34, KCa2.2, NEDMAB, SK2, SKCA2, SKCa 2, hSK2, KCNN2
    Summary: potassium calcium-activated channel subfamily N member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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