Details of Disease | DrugMAP

General Information of Disease (ID: DIS0IVAI)

Disease Name	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS0IVAI: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
Disease Identifiers	MONDO ID MONDO_0859282 UMLS CUI C5774208 OMIM ID 620023 MedGen ID 1823981

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHKA	DEMRAYN	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHKA	OT7FVO3Z	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074.