Details of Disease

General Information of Disease (ID: DIS2HX2Z)

Disease Name Developmental and epileptic encephalopathy 109
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS2HX2Z: Developmental and epileptic encephalopathy 109
Disease Identifiers
MONDO ID
MONDO_0859325
UMLS CUI
C5774263
OMIM ID
620145
MedGen ID
1824036

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
FZR1 OT0WGWZS Strong Autosomal dominant [1]
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References

1 A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy. J Neurochem. 2019 Oct;151(1):103-115. doi: 10.1111/jnc.14828. Epub 2019 Aug 22.