Case#: 11, Male, 20 months (onset), 3 years (diagnosed), 9 years (report)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: Not Provided

CasePresentingHPOs: HP:0000256, HP:0001387, HP:0002240, HP:0001744, HP:0001537, HP:0000407, HP:0000280, HP:0000943, HP:0007957 (Macrocephaly, Joint Stiffness, Hepatomegaly (moderate before HSCT and none at 9y), Splenomegaly (moderate before HSCT and none at 9y), Umbilical Hernia, Sensorineural hearing loss, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

CaseHPOFreeText: (Mental Development (Delayed since 2nd year; Developmental Quotient 73 before HSCT; mental regress after HSCT, Developmental Quotient 45 at 5y), Severe Acute graft versus host disease)

CaseNotHPOs: HP:0004322 (Short stature)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: normal IDUA activity

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: Hematopoietic Stem Cell Transplantation at 3y

GenotypingMethod: Not Provided

Variant1: p.Q70X

Variant1ClinVarID: 11909

Variant1CAID: CA204563

Variant2: p.Y167X

Variant2ClinVarID: N/A

Variant2CAID: CA355961650

AdditionalVariants: p.Q33H/Q33H, p.R105Q, p.N181, p.A314, p.T410, p.V454I, p.R489

ParentalGenotype: N/A

PreviouslyPublished N/A