Details of Disease | DrugMAP

General Information of Disease (ID: DISUW80D)

Disease Name	Neurodevelopmental disorder with or without early-onset generalized epilepsy
Synonyms	NEDEGE
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISUW80D: Neurodevelopmental disorder with or without early-onset generalized epilepsy
Disease Identifiers	MONDO ID MONDO_0030930 UMLS CUI C5436914 OMIM ID 619157 MedGen ID 1737097

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
NBEA	OTYLY5TY	Strong	Autosomal dominant	[1]
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References

1	Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1.