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Frequently inconsistent MLD genotypes and estimated burden of MLD. A Summary of the genotypes whose phenotypes did not match the patient data set and were predicted incorrectly using the phenotype matrix. These genotypes manifested with multiple phenotypes within the patient data set. We considered genotypes where each mutation occurred at least five times in the overall patient data set and ignored any patient where two mutations were not identified. We then considered the predicted phenotype based on the finalized severity of each mutation. For each genotype, we counted the number of times the predicted phenotype agreed with the observed phenotype.

DOI