Details of Disease

General Information of Disease (ID: DISMK76R)

Disease Name Developmental and epileptic encephalopathy 100
Synonyms DEE100; developmental and epileptic encephalopathy 100
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISMK76R: Developmental and epileptic encephalopathy 100
Disease Identifiers
MONDO ID
MONDO_0030695
UMLS CUI
C5676932
OMIM ID
619777
MedGen ID
1809351

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
FBXO28 OTKTMVC4 Strong Autosomal dominant [1]
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References

1 Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. Am J Med Genet A. 2014 Feb;164A(2):441-8. doi: 10.1002/ajmg.a.36320. Epub 2013 Dec 19.