Details of Disease | DrugMAP

General Information of Disease (ID: DISKP15X)

Disease Name	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISKP15X: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Disease Identifiers	MONDO ID MONDO_0859201 UMLS CUI C5562006 OMIM ID 619580 MedGen ID 1794216

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIK2	TT0K5RG	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIK2	OTQ41U3D	Strong	Autosomal dominant	[1]
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References

1	Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. Am J Hum Genet. 2021 Sep 2;108(9):1692-1709. doi: 10.1016/j.ajhg.2021.07.007. Epub 2021 Aug 9.