has material basis in germline mutation in BRAT1 neonatal-onset encephalopathy with rigidity and seizures https://github.com/monarch-initiative/mondo/issues/5125 https://github.com/monarch-initiative/mondo/issues/8225 https://www.malacards.org/card/rigidity_and_multifocal_seizure_syndrome_lethal_neonatal RMFSL MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures UMLS:C3281029 MEDGEN:482659 A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. The cause of the disease is a variation in the BRAT1 gene. Orphanet:435845 GARD:0017718 rigidity and multifocal seizure syndrome, lethal neonatal lethal neonatal spasticity-epileptic encephalopathy syndrome OMIM:614498 lethal neonatal rigidity-multifocal seizure syndrome monogenic epilepsy genetic developmental and epileptic encephalopathy