Details of Disease | DrugMAP

General Information of Disease (ID: DISOX9TO)

Disease Name	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Synonyms	NDHMSR; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISOX9TO: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0060629 UMLS CUI C4693325 OMIM ID 617820 MedGen ID 1646665

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
GRIN1	TTLD29N	Strong	Genetic Variation	[1]
GRIN1	TTLD29N	Definitive	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
GRIN1	OTZ5YBO8	Definitive	Autosomal recessive	[1]
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References

1	Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet. 2017 Feb;25(3):376-380. doi: 10.1038/ejhg.2016.163. Epub 2017 Jan 4.