Case#: Family E proband, female, 18 months old (age of diagnosis), 11 years old (age of death), Tunisia.

DiseaseAssertion: MPS1-H

FamilyInfo: No affected family members (See Fig. 1), parents were 1st degree relatives (See Table 1). The family benefited from a prenatal diagnosis showing a normal enzymatic activity (3.5 nmol/h/mg) (usual values: 1-5).

CasePresentingHPOs: HP:0001999, HP:0030799, HP:0002652, HP:0000687, HP:0030812, HP:0012471, HP:0000574, HP:0001537, HP:0001653, HP:0002673, HP:0001433, HP:0001640, HP:0004322 (Abnormal facial shape, scaphocephaly, skeletal dysplasia, widely spaced teeth, enlarged tonsils, thick lips, bushy eyebrows, umbilical hernia, mitral valve regurgitation, coax valga, hepatosplenomegaly, cardiomegaly, short stature

CaseHPOFreeText: Compression of the medulla

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity (0.5 nmol/h/mg) (usual values: 1-5 nmol/h/mg).

CaseUrineGAGs: glycosaminoglycans (125 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.530T>C (p.F177S)

Variant1ClinVarID: N/A

Variant1CAID: CA355961706

Variant2: c.530T>C (p.F177S)

Variant2ClinVarID: N/A

Variant2CAID: CA355961706

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A