NAGLU and mucopolysaccharidosis type 3: A novel missense mutation in exon 3 of the N‐acetyl‐alpha‐glucosaminidase (NAGLU) gene, NM_000263.3: c.587C>T [NP_000254.2: p.Pro196Leu] causing Sanfilippo syndrome, was detected (read depth: 73x).