Case#: Family C proband, male, 1 year and 8 months old (age of diagnosis), 2 years old (age of death), Tunisia.

DiseaseAssertion: MPS1-H

FamilyInfo: No affected family members (See Fig. 1). Parents were 1st degree relatives (First child of first cousins) (See Table 1).

CasePresentingHPOs: HP:0001263, HP:0000280, HP:0001131, HP:0001513 (Global developmental delay, course facial features, corneal dystrophy, obesity)

CaseHPOFreeText: Abnormal flexibility of joints

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: DUA activity (0.1 nmol/h/mg) (usual values: 1-5)

CaseUrineGAGs: Glycosaminoglycans (116 mg/g of creatinine) (usual values: 9-46), abnormal electrophoresis profile with dermatan sulfate and heparan sulfate.

CaseERT: No

CaseBMT: No

Variant1: c.1587_1588dup (p.Leu530Argfs*31) (Information pulled from separate article PMID: 21639919) Article had written p.L530fs (1587_1588 insGC) (See article 12). However, upon looking at the chromatogram (Fig. 2), it was noted that there was an error in the nomenclature. A duplication had occurred rather than an insertion.

Variant1ClinVarID: 2203498

Variant1CAID: CA2580616050

Variant2: c.1587_1588dup (p.Leu530Argfs*31) (Information pulled from separate article PMID: 21639919)

Variant2ClinVarID: 2203498

Variant2CAID: CA2580616050

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A