Case#: Patient 1, male, 11 months (age of onset), 2 years (age at report)

DiseaseAssertion: MPS1

FamilyInfo: Born from a second-degree consanguineous marriage, has a healthy older brother.

CasePresentingHPOs: Claw hand deformity, extended Mongolian blue spot, hernia, macrocephaly, neurodevelopmental delay, dysostosis multiplex (HP:0034337, HP:0011369, HP:0100790, HP:0000256, HP:0012758, HP:0000943)

CaseHPOFreeText: N/A

CaseNotHPOs: Intellectual disability (HP:0001249)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Low level of IDUA enzyme activity

CaseUrineGAGs: Negative GAG-excretion

CaseERT: N/A

CaseBMT: N/A

Variant1: c.523T>C (p.W175R)

Variant1ClinVarID: 226412

Variant1CAID: CA10576337

Variant2: c.523T>C (p.W175R)

Variant2ClinVarID: 226412

Variant2CAID: CA10576337

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A