Case#: Patient 6, 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: 0.06 nmol/mg/h (reference range 135 ± 57 nmol/mg/h)

CaseUrineGAGs: 238.7 mg GAG/mmol/creatinine (reference range 6.17 ± 3.79 mg GAG/mmol creatinine)

CaseERT: No

CaseBMT: No

Variant1: c.1162dupA (p.Thr388Asnfs*11)

Variant1ClinVarID: N/A

Variant1CAID: CA2586965961

Variant2: c.1162dupA (p.Thr388Asnfs*11)

Variant2ClinVarID: N/A

Variant2CAID: CA2586965961

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A