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Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

Summary

Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) is characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay. Most affected individuals are severely affected and may be unable to walk, have feeding difficulties requiring tube-feeding, and develop early-onset seizures. Additional features may include cortical blindness and nonspecific structural brain abnormalities. Rare individuals present only with hypotonia and mild developmental delay (Paul et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BM-010, DDX2B, EIF4A, EIF4F, NEDHSS, eIF-4A-II, eIF4A-II, EIF4A2
    Summary: eukaryotic translation initiation factor 4A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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