Details of Disease

General Information of Disease (ID: DIS6OQ8P)

Disease Name Developmental and epileptic encephalopathy, 66
Synonyms developmental and epileptic encephalopathy 66; DEE66; epileptic encephalopathy, early infantile, 66; EIEE66
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS6OQ8P: Developmental and epileptic encephalopathy, 66
Disease Identifiers
MONDO ID
MONDO_0054845
UMLS CUI
C4748070
OMIM ID
618067
MedGen ID
1648486

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
PACS2 OTPU9HUA Strong Autosomal dominant [1]
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References

1 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.