Case#: Family D proband, female, 2 months and 5 days old (age of diagnosis), 14 months old (age of onset), 10 years old (age at report), Tunisia.

DiseaseAssertion: MPS1-H

FamilyInfo: No affected family members (See Fig. 1), parents were 1st degree relatives (first cousins) (See Table 1).

CasePresentingHPOs: HP:0002094, HP:0001605, HP:0001999, HP:0004322 (Dyspnea, laryngeal paralysis, abnormal facial shape, short stature)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

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

CaseUrineGAGs: glycosaminoglycans (97 mg/g of creatinine) (usual values: 9-46), abnormal electrophoresis profile with dermatan sulfate and heparan sulfate.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1743C>G (p.Y581X)

Variant1ClinVarID: 550883

Variant1CAID: N/A

Variant2: c.1743C>G (p.Y581X)

Variant2ClinVarID: 550883

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 1, Female, 2 years 5 days (diagnosed), 9 years (report), Makthar (Tunisian origin)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: Parents are consanguineous between 3rd cousins

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Leukocyte IDUA activity 0.1% (% normal) ; determined in sonicated leukocyte pellets using the artificial substrate 4-methylumbellifery IDUA

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Sequencing exons and intro-exon junctions; Phenol/chloroform procedure

Variant1: p.Y581X

Variant1ClinVarID: 550883

Variant1CAID: CA2802392

Variant2: p.Y581X

Variant2ClinVarID:550883

Variant2CAID: CA2802392

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: P12, Male, 2.6 years (diagnosed), 9.6 (report), Algerian

DiseaseAssertion: Hurler Syndrome

FamilyInfo: Parents are not consanguineous

CasePresentingHPOs: HP:0001249, HP:0001999, HP:0000943, HP:0001387, HP:0001433, HP:0001387, HP:0000238 (Mental Retardation, Facial Dysmorphic Features, Multiple Dysostosis, Joint Stiffness, Hepatosplenomegaly, Hernia(Ombelical), Hydrocephalus)

CaseHPOFreeText: Chronic Rhinorrhea

CaseNotHPOs: HP:0007957 (Corneal Opacity)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA Enzyme activity 0 (% to the reference range mean)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Direct DNA Fragments Sequencing

Variant1: c.1598C>G (p.Pro533Arg)

Variant1ClinVarID: 11910

Variant1CAID: CA256112

Variant2:c.1743C>G (p.Tyr581*)

Variant2ClinVarID: 550883

Variant2CAID: CA2802392

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 12 (see Table 1), 5 years old (age at report), 9 months old (age at onset), female, height of 120 cm, weight of 18 kg, located at Tunis: Industrial region

DiseaseAssertion: MPS1 - severe

FamilyInfo: Parents were 2nd cousins (see Table 2), aged 38 yrs (M) and 46 yrs (F).

CasePresentingHPOs: HP:0004322, HP:0001999, HP:0001537, HP:0007957, HP:0000924, HP:0010864 (Short stature, facial dysmorphia, umbilical hernia, corneal clouding, skeletal abnormalities, severe intellectual disability)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA Activity - 0

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1743C>G (p.Y581X)

Variant1ClinVarID: 550883

Variant1CAID: CA220498

Variant2: c.1743C>G (p.Y581X)

Variant2ClinVarID: 550883

Variant2CAID: CA220498

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A