Details of Disease

General Information of Disease (ID: DISNN0OR)

Disease Name Developmental and epileptic encephalopathy, 28
Synonyms
epileptic encephalopathy, early infantile, type 28; WWOX-related epileptic encephalopathy; developmental and epileptic encephalopathy 28; EIEE28; epileptic encephalopathy, early infantile, 28; DEE28; WOREE syndrome; WWOX early infantile epileptic encephalopathy; early infantile epileptic encephalopathy caused by mutation in WWOX
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DISNN0OR: Developmental and epileptic encephalopathy, 28
Disease Identifiers
MONDO ID
MONDO_0014533
UMLS CUI
C4015519
OMIM ID
616211
MedGen ID
863956

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
WWOX OTBDGSMG Strong Autosomal recessive [1]
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References

1 The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J Rare Dis. 2014 Jan 23;9:12. doi: 10.1186/1750-1172-9-12.