Fig. 2

The patient-based severity ruleset and the phenotype matrix. A Ruleset for determining patient-based severity of ARSA variants. B The phenotype matrix used for prediction of phenotype from variant severity. The exterior labels of this matrix represent the severity assignments (severe, moderate, mild, benign, unknown) for each variant in the genotype. The interior cells represent the expected MLD phenotype (infantile/late-infantile, juvenile, adult, asymptomatic, unknown) produced by the combination of variants. ARSA, arylsulfatase A