Details of Disease

General Information of Disease (ID: DIS4YBH9)

Disease Name Developmental and epileptic encephalopathy, 33
Synonyms
developmental and epileptic encephalopathy 33; EEF1A2-Related Neurodevelopmental Disorder; early infantile epileptic encephalopathy caused by mutation in EEF1A2; epileptic encephalopathy, early infantile, type 33; epileptic encephalopathy, early infantile, 33; EIEE33; EEF1A2 early infantile epileptic encephalopathy; DEE33
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DIS4YBH9: Developmental and epileptic encephalopathy, 33
Disease Identifiers
MONDO ID
MONDO_0014625
UMLS CUI
C4225337
OMIM ID
616409
MedGen ID
897930

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
EEF1A2 OT9Z23K5 Strong Autosomal dominant [1]
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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.