Case#: Patient 2, male, Russian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Severe intellectual disability, corneal clouding, skeletal deformities, hepatosplenomegaly (HP:0010864, HP:0007957, HP:0000924, HP:0001433)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.4 nmol/mg/h (reference range 135 ± 57 nmol/mg/h)

CaseUrineGAGs: 42.19 mg GAG/mmol/creatinine (reference range 6.17 ± 3.79 mg GAG/mmol creatinine)

CaseERT: No

CaseBMT: No

Variant1: c.1044C>G (p.N348K)

Variant1ClinVarID: 557870

Variant1CAID: CA2802172

Variant2: c.718C>G (p.H240D)

Variant2ClinVarID: 2654540

Variant2CAID: CA355962125

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A