POMT1 and muscular dystrophy-dystroglycanopathy, type A: While the sample from a neonate who passed away (case 1.4.3) with a clinical diagnosis of Dandy walker with radiological evidence of malformation and oligohydramnios exhibited two compound heterozygous VUS (which included novel variant c.280 + 7_280 + 9AG) in POMT1 gene causative of Walker–Warburg syndrome [15].