Case#: PKMPS1P2a, 8 years old (age at presentation), female, Pakastani

DiseaseAssertion: MPS-IH

FamilyInfo: Proband has an affected younger brother (PKMPS1P2b)

CasePresentingHPOs: On and off snoring, nasal congestion, failure to thrive, abdominal distension, recurrent respiratory infections, hepatomegaly (HP:0025267, HP:0001742, HP:0001508, HP:0003270, HP:0002788, HP:0002240)

CaseHPOFreeText: A liver span of 2 cm with firm consistency and a smooth surface. Smooth muscle infections.

CaseNotHPOs: Vomiting, headache (HP:0002013, HP:0002315)

CaseNotHPOFreeText: Fever, difficulty walking, normal facial features and normal eyes.

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.908T>C (p.L303P)

Variant1ClinVarID: N/A

Variant1CAID: CA355962537

Variant2: c.908T>C (p.L303P)

Variant2ClinVarID: N/A

Variant2CAID: CA355962537

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A