has material basis in germline mutation in PLCB1 developmental and epileptic encephalopathy, 12 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9285 https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_12 MEDGEN:462338 An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. DEE12 developmental and epileptic encephalopathy, 12 epileptic encephalopathy, early infantile, 12 OMIM:613722 epileptic encephalopathy, early infantile, type 12 MONDO:0013389 DOID:0080459 early infantile epileptic encephalopathy 12 developmental and epileptic encephalopathy 12 GARD:0013318 UMLS:C3150988 EIEE12 early infantile epileptic encephalopathy caused by mutation in PLCB1 PLCB1 early infantile epileptic encephalopathy malignant migrating partial seizures of infancy infantile spasms genetic developmental and epileptic encephalopathy neonatal-onset developmental and epileptic encephalopathy