Case#: PKMPS1P3, 6 months old (age at presentation), female, Pakastani, born full term through C-section

DiseaseAssertion: MPS-I

FamilyInfo: Born to consanguineous parents

CasePresentingHPOs: Abdominal distension (at 6 months), difficulty breathing, macrocephaly, coarse facial features, hernia, cardiomyopathy, recurrent respiratory infections, recurrent ear infections, joint contractures (HP:0003270, HP:0002094, HP:0000256, HP:0000256, HP:0100790, HP:0001638, HP:0002788, HP:0410018, HP:0100790)

CaseHPOFreeText: Abnormal spine position. The liver span was 10 cm, having soft to firm consistency. The spleen was palpable and soft. Bone pains. X-ray of the skull showed reverse J-shaped sella sutural diastasis, and the X-ray of the hand showed proximal tapering Q metatarsal. Thick broad arc-shaped ribs, thick skull calvarium, with apparently enlarged cardiac size was observed in the chest X-ray.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.314G>A (p.R105Q)

Variant1ClinVarID: 92641

Variant1CAID: CA145881

Variant2: c.314G>A (p.R105Q)

Variant2ClinVarID: 92641

Variant2CAID: CA145881

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 4, female, Russian

DiseaseAssertion: MPS1-S

FamilyInfo: N/A

CasePresentingHPOs: Moderate mental delay, hepatosplenomegaly, joint stiffness, corneal clouding (HP:0002342, HP:0001433, HP:0001387, HP:0007957)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 7.7 nmol/mg/h (reference range 135 ± 57 nmol/mg/h)

CaseUrineGAGs: 20.79 mg GAG/mmol/creatinine (reference range 6.17 ± 3.79 mg GAG/mmol creatinine)

CaseERT: No

CaseBMT: No

Variant1: c.314G>A (p.R105Q)

Variant1ClinVarID: 92641

Variant1CAID: CA145881

Variant2: c.1081G>A (p.A361T)

Variant2ClinVarID: 92624

Variant2CAID: CA145865

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Functional assay variant with a clinical significance of benign.

DiseaseAssertion: MPS-I

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.314G>A (p.R105Q)

Variant1ClinVarID: 92641

Variant1CAID: CA145881

Variant2: N/A

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Variant not associated with a proband. Variant listed in supplementary materials in Supplementary Table 4

DiseaseAssertion: Mucopolysaccharidosis type I, MPS I

FamilyInfo: N/A

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: R105Q

Variant1ClinVarID: 92641

Variant1CAID: CA145881

Variant2: N/A

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished: N/A