Further variant was PIGV:c.1022C>A (p.Ala341Glu) detected in one homozygous female (patient XIII) and two heterozygous females (patient XV and patient XVI), and classified in ClinVar as a cause of hyperphosphatasia with intellectual disability syndrome 1 (MIM #239300). Here, PIGV is linked to Elevated circulating alkaline phosphatase concentration.