Seven patients share the combination of these two frequent ALPL mutations (p.Glu191Lys/p.Gly334Asp, compound heterozygous) but differ in their clinical presentation (2 infantile HPP of whom one needed ventilation and both were treated with asfotase alfa; 5 childhood HPP, only one severe childhood and received asfotase alfa [21]). The gene discussed is ALPL; the disease is hypophosphatasia.