Case#: Patient #17, Brazilian

DiseaseAssertion: MPS1, mild

FamilyInfo:

CasePresentingHPOs:

CaseHPOFreeText: survival beyond age 35

CaseNotHPOs:

CaseNotHPOFreeText: mental retardation

GenotypingMethod:

PreviouslyPublished:

Variant: Q380R; R628P (also A8, A20, L14)

ClinVar: 1064675

CAID:

SupplementalData:

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: R628P

Variant1ClinVarID: 1064675

Variant1CAID: CA2802464

Variant2: N/A

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished: N/A