Details of Disease | DrugMAP

General Information of Disease (ID: DIS0CS3T)

Disease Name	Developmental and epileptic encephalopathy, 23
Synonyms	developmental and epileptic encephalopathy, 23; early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; developmental and epileptic encephalopathy 23; EIEE23; epileptic encephalopathy, early infantile, 23; epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome; epileptic encephalopathy, early infantile, type 23
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DIS80GDF: Monogenic epilepsy DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISZOCA3: Epileptic encephalopathy DIS0CS3T: Developmental and epileptic encephalopathy, 23
Disease Identifiers	MONDO ID MONDO_0014371 UMLS CUI C4014492 OMIM ID 615859 MedGen ID 862929 Orphanet ID 411986

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
DOCK7	OTINNVQV	Strong	Autosomal recessive	[1]
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References

1	Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8.