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Neurodevelopmental disorder with impaired language and ataxia and with or without seizures

Summary

Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EAA4, GLR6, GLUK6, GLUR6, GluK2, MRT6, NEDLAS, GRIK2
    Summary: glutamate ionotropic receptor kainate type subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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