Details of Disease

General Information of Disease (ID: DIS18LW2)

Disease Name Developmental and epileptic encephalopathy, 61
Synonyms EIEE61; DEE61; developmental and epileptic encephalopathy 61; epileptic encephalopathy, early infantile, 61
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS18LW2: Developmental and epileptic encephalopathy, 61
Disease Identifiers
MONDO ID
MONDO_0033370
UMLS CUI
C4693688
OMIM ID
617933
MedGen ID
1639392

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
ADAM22 OT452ZDC Moderate Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.