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Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

Summary

Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ASNRS, NARS, NEDMILEG, NEDMILG, NARS1
    Summary: asparaginyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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