From: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
Clinical form
One mutation
Two mutations
Total
Perinatal
5 (6.4%)
73 (93.6%)
78
Infantile
2 (3.3%)
58 (96.7%)
60
Childhood
8 (23.5%)
26 (76.4%)
34
Adult
12 (40.0%)
18 (60.0%)
30
Odontohypophosphatasia
29 (74.3%)
10 (25.6%)
39
56
185
241