Details of Disease | DrugMAP

General Information of Disease (ID: DISL8EW7)

Disease Name	Neurodevelopmental disorder with or without seizures and gait abnormalities
Synonyms	NEDSGA; neurodevelopmental disorder with or without seizures and gait abnormalities
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISL8EW7: Neurodevelopmental disorder with or without seizures and gait abnormalities
Disease Identifiers	MONDO ID MONDO_0060641 UMLS CUI C4693391 OMIM ID 617864 MedGen ID 1645968

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIA4	TTPJR0G	Strong	Autosomal dominant	[1]
GRIA4	TTPJR0G	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIA4	OTI98QMP	Strong	Autosomal dominant	[1]
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References

1	De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. Am J Hum Genet. 2017 Dec 7;101(6):1013-1020. doi: 10.1016/j.ajhg.2017.11.004.