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Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities

Summary

Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech. Brain imaging may show developmental defects of the operculum, cerebellum, and corpus callosum. Death in early childhood may occur (Calame et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CCDC55, HSPC095, NEDSSBA, NSrp70, NSRP1
    Summary: nuclear speckle splicing regulatory protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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