Case#: Infant originally picked up on newborn screening; Hispanic. At 6 weeks of age, the listed clinical features were found. At 23 months, the infant is doing well.

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, congenital dermal melanocytosis, dysostosis multiplex (HP:0000256, HP:0100814, HP:0000943)

CaseHPOFreeText: A liver edge palpable 1-2 cm below the right costal margin and described as very firm.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: <0.3 nmol/h/mg protein; normal range, 12-65 nmol/h/mg protein

CaseUrineGAGs: 226 mg/mmol creatinine; normal range, 0-53 mg/mmol creatinine

CaseERT: N/A

CaseBMT: Yes - Underwent stem cell transplantation at 2.5 months

Variant1: c.590-1G>A

Variant1ClinVarID: 1451365

Variant1CAID: CA355961851

Variant2: c.901G>C (D301H)

Variant2ClinVarID: 2792270

Variant2CAID: CA355962523

AdditionalVariants: N/A

ParentalGenotype: Not stated but the patient's variants are reported in trans

PreviouslyPublished N/A