Details of Disease

General Information of Disease (ID: DIS7JC0O)

Disease Name Neurodevelopmental disorder with infantile epileptic spasms
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS7JC0O: Neurodevelopmental disorder with infantile epileptic spasms
Disease Identifiers
MONDO ID
MONDO_0859162
UMLS CUI
C5543538
OMIM ID
619373
MedGen ID
1781627

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
NCDN OT5CE7LO Strong Autosomal dominant [1]
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References

1 Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Apr 1;108(4):739-748. doi: 10.1016/j.ajhg.2021.02.015. Epub 2021 Mar 11.