Details of Disease

General Information of Disease (ID: DISF0VGU)

Disease Name Developmental and epileptic encephalopathy, 64
Synonyms DEE64; epileptic encephalopathy, early infantile, 64; EIEE64; developmental and epileptic encephalopathy 64
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISF0VGU: Developmental and epileptic encephalopathy, 64
Disease Identifiers
MONDO ID
MONDO_0033373
UMLS CUI
C4693899
OMIM ID
618004
MedGen ID
1633501

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
RHOBTB2 OT2DATFX Strong Autosomal dominant [1]
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References

1 Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6.