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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Summary

Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (NEDMEHM) is an autosomal recessive neurometabolic disorder characterized by these cardinal features. Patients also show an exaggerated startle reflex in early infancy (Rodan et al., 2018). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HsT19268, NEDMEHM, MTHFS
    Summary: methenyltetrahydrofolate synthetase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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