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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Figure 2

Male patient with MPS II (left, child) and a heterozygote for MPS II (left, mother). The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral regurgitation, deafness, and hydrocephaly. He presents a total deletion of the IDS gene. The mother is a MPS II carrier and is asymptomatic. Image use authorized by patient.

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