Details of Disease

General Information of Disease (ID: DISY22AX)

Disease Name Developmental and epileptic encephalopathy, 88
Synonyms DEE88; developmental and epileptic encephalopathy 88; EIEE88; epileptic encephalopathy, early infantile, 88; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISY22AX: Developmental and epileptic encephalopathy, 88
Disease Identifiers
MONDO ID
MONDO_0030072
UMLS CUI
C5394553
OMIM ID
618959
MedGen ID
1712195

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
MDH1 OTJEO4E8 Limited Unknown [1]
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References

1 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.