Case#: Boy 1, male, 10 years old, born at full-term with a birth weight of 3,400 grams.

DiseaseAssertion: MPS-I H/S

FamilyInfo: Boy 1 was born to a Chinese family of five members, with a total of 3 boys. Genetic testing was conducted on all 5 family members. The first and third child (boy 1 and boy 3) have MPS I. The second son had a normal phenotype and genotype.

CasePresentingHPOs: Claw hands, limitation of joint mobility, corneal clouding (HP:0034337, HP:0001376, HP:0007957)

CaseHPOFreeText: Swollen knee, lesions (noted at 3 years old)

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 3.84 nmol/h/mg (reference range >21)

CaseUrineGAGs: Positive for urinary polysaccharide toluidine blue staining test

CaseERT: N/A

CaseBMT: N/A

Variant1: c.265C>T (p.R89W)

Variant1ClinVarID: 580286

Variant1CAID: CA2801156

Variant2: c.1633G>T (p.E545X)

Variant2ClinVarID: N/A

Variant2CAID: CA355965099

AdditionalVariants: N/A

ParentalGenotype: Mother carries c.265C>T and father carries c.1633G>T.

PreviouslyPublished N/A