GLB1 and GM1 gangliosidosis type 1: Clinical exome sequencing analysis identified two heterozygous pathogenic variants in GLB1: c.245 + 1 G > A (p.?; ClinVar accession VCV000417873.6) and c.202C > T (p.Arg68Trp; ClinVar accession VCV000000944.7), confirming the diagnosis of autosomal recessive GLB1-related GM1 gangliosidosis type 1.