Details of Disease | DrugMAP

General Information of Disease (ID: DIS4IJAY)

Disease Name	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS4IJAY: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
Disease Identifiers	MONDO ID MONDO_0859275 UMLS CUI C5774197 OMIM ID 620001 MedGen ID 1823970

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
NSRP1	OTOXZJUV	Strong	Autosomal recessive	[1]
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References

1	Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 Dec;23(12):2455-2460. doi: 10.1038/s41436-021-01291-x. Epub 2021 Aug 12.