Details of Disease

General Information of Disease (ID: DISTIKTG)

Disease Name Developmental and epileptic encephalopathy, 81
Synonyms developmental and epileptic encephalopathy 81; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81; EIEE81; DEE81; epileptic encephalopathy, early infantile, 81
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISTIKTG: Developmental and epileptic encephalopathy, 81
Disease Identifiers
MONDO ID
MONDO_0032858
UMLS CUI
C5231450
OMIM ID
618663
MedGen ID
1684681

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
DMXL2 OTB4JWN3 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.