Case#: Proband of family A, which is an inbred Pakistani family, 16 months old (age at report)

DiseaseAssertion: MPS I - Severe

FamilyInfo: Family A is an inbred Pakistani family

CasePresentingHPOs: Asthma, sleep apnea, joint contractures, kyphosis, coarse facial features, hepatosplenomegaly, inguinal hernia, thick eyebrow, large tongue, thick lips (HP:0002099, HP:0010535, HP:0100790, HP:0002808, HP:0000256, HP:0001433, HP:0000023, HP:0000574, HP:0000158, HP:0000219)

CaseHPOFreeText: Ear/nose/throat infections, aggressive (behavior?), rough skin

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1456G>T (p.E486X)

Variant1ClinVarID: 651168

Variant1CAID: CA355964628

Variant2: c.1456G>T (p.E486X), Confirmed homozygous in Figure 1

Variant2ClinVarID: 651168

Variant2CAID: CA355964628

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: No additional case information provided

DiseaseAssertion: MPSI-H

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.1456G>T (p.E486X)

Variant1ClinVarID: 651168

Variant1CAID: CA355964628

Variant2: c.1456G>T (p.E486X)

Variant2ClinVarID: 651168

Variant2CAID: CA355964628

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A