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Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

Summary

Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; 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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