Details of Disease

General Information of Disease (ID: DIS6KG8I)

Disease Name Developmental and epileptic encephalopathy, 15
Synonyms developmental and epileptic encephalopathy 15; DEE15; epileptic encephalopathy, early infantile, type 15; EIEE15; epileptic encephalopathy, early infantile, 15
Disease Hierarchy
DISLIAU9: West syndrome
DISZOCA3: Epileptic encephalopathy
DIS6KG8I: Developmental and epileptic encephalopathy, 15
Disease Identifiers
MONDO ID
MONDO_0014003
UMLS CUI
C3554316
OMIM ID
615006
MedGen ID
767230

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
ST3GAL3 OTOORKUE Strong Autosomal recessive [1]
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References

1 ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 2011 Sep 9;89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008.