Details of Disease

General Information of Disease (ID: DIS85QSG)

• Disease Name: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
• Synonyms: NEDMILEG; neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant; NEDMILEG, AD
• Definition: An autosomal dominant neurodevelopmental disorder 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.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DISYOKTG: Mendelian neurodevelopmental disorder
  DIS85QSG: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
• Disease Identifiers:
  MONDO ID: MONDO_0030837
  UMLS CUI: C5436788
  OMIM ID: 619092
  MedGen ID: 1764121

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NARS1	OTFS4J1W	Strong	Autosomal dominant	[1]

References

• [1] De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31.