Details of Disease

General Information of Disease (ID: DIS1ZJKT)

Disease Name Developmental and epileptic encephalopathy, 70
Synonyms epileptic encephalopathy, early infantile, 70; EIEE70; developmental and epileptic encephalopathy 70; DEE70; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DIS1ZJKT: Developmental and epileptic encephalopathy, 70
Disease Identifiers
MONDO ID
MONDO_0032663
UMLS CUI
C4749023
OMIM ID
618298
MedGen ID
1648407

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
PHACTR1 OTAMPX9V Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.