This variant lies on Chromosome 3 and affects the gene NPHP3-ACAD11, UBA5 (NPHP3-ACAD11 readthrough (NMD candidate)| ubiquitin like modifier activating enzyme 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Developmental and epileptic encephalopathy, 44