PGAP2 and Elevated circulating alkaline phosphatase concentration: To our knowledge, neither c.530A>G, p.Asn177Ser, nor c.646G>A, p.Gly216Arg, observed in family 2 has been previously reported in the literature, expanding the genotypic spectrum of PGAP2. Accordingly, the compound heterozygous presence of these variants leads to epilepsy, ID, craniofacial anomalies, and hyperphosphatasia.