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Neurodevelopmental disorder with language delay and seizures

Summary

Neurodevelopmental disorder with language delay and seizures (NEDLDS) is an autosomal recessive disorder characterized by global developmental delay with mild to severely impaired intellectual development and speech delay with poor or absent language. Affected individuals develop early-onset seizures that are usually well-controlled with medication. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and nonspecific dysmorphic features or brain imaging abnormalities (Lu et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDLDS, TIAM-1, TIAM1
    Summary: TIAM Rac1 associated GEF 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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