Case#: No additional case information provided

DiseaseAssertion: MPSI-H/S

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.794G>A (p.G265D)

Variant1ClinVarID: 2203496

Variant1CAID: CA91168317

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: CA220498

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Case 1, male, ~40 years old (age at onset of symptoms), 56 years old (age at diagnosis), height of 177 cm, weight of 84 kg, BMI of 26.9 kg/m2.

DiseaseAssertion:MPS1

FamilyInfo: N/A

CasePresentingHPOs: Visual impairment, chest infections, pericentral retinitis pigmentosa, retinopathy (HP:0000505, HP:0002783, HP:0007947, HP:0000488)

CaseHPOFreeText: Electrocardiogram: Left ventricular hypertrophy on voltage criteria, right sensorineural deafness, changes in lumbar spine (present significantly), T wave abnormalities were observed.

CaseNotHPOs: Intellectual disability (HP:0010864)

CaseNotHPOFreeText: Ultrasound scan of liver/spleen/hernia and pulmonary function tests were normal.

CaseEnzymeAssay: 0.3 nmol/mg/hr (13.0–111.0 nmol/mg/hr reference range)

CaseUrineGAGs: 5.4 mg/mmol (0-8.0 mg/mmol reference range) per author Karolina Stepien

CaseERT: N/A

CaseBMT: N/A

Variant1: c.794G>A (p.G265D)

Variant1ClinVarID: 2203496

Variant1CAID: CA91168317

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: CA220498

AdditionalVariants: No mention about additional variants per author Karolina Stepien

ParentalGenotype: N/A

PreviouslyPublished N/A