General Information of Disease (ID: DISKI679)

Disease Name Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Synonyms neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive; NEDMILG, AR
Definition
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.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISYOKTG: Mendelian neurodevelopmental disorder
DISKI679: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Disease Identifiers
MONDO ID
MONDO_0100348
UMLS CUI
C5436783
OMIM ID
619091
MedGen ID
1731507

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NARS1 OTFS4J1W Strong Autosomal recessive [1]
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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.