Details of Disease

General Information of Disease (ID: DISZJRYC)

Disease Name Developmental and epileptic encephalopathy, 18
Synonyms
EIEE18; early infantile epileptic encephalopathy without suppression burst; epileptic encephalopathy, early infantile, 18; DEE18; developmental and epileptic encephalopathy 18; epileptic encephalopathy, early infantile, type 18
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISTEZKR: Infantile epilepsy syndrome
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISZOCA3: Epileptic encephalopathy
DISZJRYC: Developmental and epileptic encephalopathy, 18
Disease Identifiers
MONDO ID
MONDO_0014201
UMLS CUI
C3809624
OMIM ID
615476
MedGen ID
815954

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
SZT2 OTB4FVP4 Definitive Autosomal recessive [1]
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References

1 Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8.