Details of Disease

General Information of Disease (ID: DISQHLQE)

Disease Name Developmental and epileptic encephalopathy, 67
Synonyms epileptic encephalopathy, early infantile, 67; developmental and epileptic encephalopathy 67; EIEE67; DEE67
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISQHLQE: Developmental and epileptic encephalopathy, 67
Disease Identifiers
MONDO ID
MONDO_0029138
UMLS CUI
C4748341
OMIM ID
618141
MedGen ID
1648285

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
CUX2 OTDJTQAJ Strong Autosomal dominant [1]
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References

1 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.