Details of Disease

General Information of Disease (ID: DISV1FBX)

Disease Name Developmental and epileptic encephalopathy, 90
Synonyms developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant; developmental and epileptic encephalopathy 90; DEE90
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISV1FBX: Developmental and epileptic encephalopathy, 90
Disease Identifiers
MONDO ID
MONDO_0025353
UMLS CUI
C5542345
OMIM ID
301058
MedGen ID
1786502

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
FGF13 OTHNNVSG Strong X-linked [1]
------------------------------------------------------------------------------------

References

1 Xq26.3 microdeletion in a male with Wildervanck Syndrome. Ophthalmic Genet. 2014 Mar;35(1):18-24. doi: 10.3109/13816810.2013.766218. Epub 2013 Feb 1.