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Neurodevelopmental disorder with seizures and brain abnormalities

Summary

Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA) is an autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity (summary by Duncan et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLC3, ClC-3, NEDHYBA, NEDSBA, CLCN3
    Summary: chloride voltage-gated channel 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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