Case#: Patient 19, female, 8 months (age at presentation).

DiseaseAssertion: MPS1-H

FamilyInfo: Consanguinity in the family present for this patient.

CasePresentingHPOs: Corneal clouding, coarse facial features, cardiomegaly, cardiomyopathy, dystosis multiplex, hepatomegaly, joint stiffness, Mongolian blue spots, splenomegaly, recurrent respiratory infections, umbilical hernia, global developmental delay (HP:0007957, HP:0000256, HP:0001640, HP:0001638, HP:0000943, HP:0002240, HP:0001387, HP:0011369, HP:0001744, HP:0002205, HP:0001537, HP:0001263)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1402+1G>A

Variant1ClinVarID: 555490

Variant1CAID: CA355964379

Variant2: c.1402+1G>A

Variant2ClinVarID: 555490

Variant2CAID: CA355964379

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A