Fig. 1

Pie charts of phenotypes and ARSA genotypes. A Phenotypes in the curated patient data set. The three most common ARSA genotypes associated with each severity phenotype are highlighted (n = 486). B Predicted phenotypes based on the allele frequencies from gnomAD and the patient-based severity ruleset and phenotype matrix. The three most prevalent ARSA genotypes for each predicted phenotype are indicated. C Predicted phenotypes based on the allele frequencies from gnomAD and ARSA enzyme activities measured in transfected HEK293T cells. The three most prevalent ARSA genotypes for each predicted phenotype are indicated. ARSA, arylsulfatase A; gnomAD, Genome Aggregation Database