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Neurodevelopmental disorder with infantile epileptic spasms

Summary

Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging (summary by Fatima et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDIES, NCDN
    Summary: neurochondrin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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