Fig. 4From: Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registryFrequency of ALPL pathogenic variants. Pathogenic variants were categorized using the definitions from Sequence Ontology [40]. Figure reports the percentages of the total number of pathogenic variants reported (n = 218). aOther includes structural variant (n = 2), synonymous variant (n = 2), and missense variant/splice region variant (n = 1)Back to article page