Case#: Patient 9 (see Table 1), 5 years old - deceased (age at report), 1 year old (age at onset), female, height of 102 cm, weight of 18 kg, located at Mahdia: Touristic region.

DiseaseAssertion: MPS1 - severe

FamilyInfo: Parents were 1st cousins (see Table 2), aged 50 yrs (M) and 62 yrs (F).

CasePresentingHPOs: HP:0004322, HP:0010864, HP:0001537, HP:0000687, HP:0030812, HP:0001999, HP:0007957, HP:0000943 (Short stature, severe intellectual disability, umbilical hernia, widely spaced teeth, enlarged tonsils, facial dysmorphia, corneal clouding, dysostosis multiplex)

CaseHPOFreeText: Pigmented skin

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity 0.020 μKat/kg

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1882C>T (p.R628X)

Variant1ClinVarID: 550421

Variant1CAID: CA2802462

Variant2: c.1882C>T (p.R628X)

Variant2ClinVarID: 550421

Variant2CAID: CA2802462

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A