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Neurodevelopmental disorder with microcephaly, ataxia, and seizures

Summary

Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) is an autosomal recessive disorder characterized by global developmental delay and early-onset seizures. More variable features may include deafness, cardiomyopathy, and severe febrile decompensations (summary by Ravel 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: NEDMAS, SARS, SERRS, SERS, SARS1
    Summary: seryl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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