A variant was discovered in gene LOC117125587, MAST1 (CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element| microtubule associated serine/threonine kinase 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations