MCOLN1 and mucolipidosis type IV: Similarly, a partial MCOLN1 gene deletion (c.1_788del) has been detected and described in patients with Mucolipidosis Type IV and identified as founder mutation in the Ashkenazi Jewish population [104], while a homozygous 94 bp deletion and a homozygous deletion of exons 8–9 in SLC17A5 were found in a child and in a prenatal hydrops fetalis with infantile free sialic acid storage disease, respectively [105,106].