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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Mucopolysaccharidosis type II (MPS II) is caused by variants in the iduronate‐2‐sulphatase gene (IDS). Patients can be either neuronopathic with intellectual disability, or non‐neuronopathic. Few studies have reported on the IDS genotype–phenotype relationship and on the molecular effects involved. We addressed this in a cohort study of Dutch patients with MPS II.