has material basis in germline mutation in KCNQ2 developmental and epileptic encephalopathy, 7 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_7 developmental and epileptic encephalopathy 7 KCNQ2-related disorders KCNQ2-NEE GARD:0013060 MEDGEN:462336 DOID:0080462 Orphanet:439218 EIEE7 epileptic encephalopathy, early infantile, type 7 KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. epileptic encephalopathy, early infantile, 7 OMIM:613720 DEE7 UMLS:C3150986 MONDO:0013387 genetic developmental and epileptic encephalopathy