Case#: Patient 2, female, 18 months (age at diagnosis), 22 months (age at HSCT), weight of 12.1 kg (at HSCT), 5 years (age at report). Neurological development is not impaired.

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, kyphosis, abdominal distension, mild mitral regurgitation (HP:0000256, HP:0002808, HP:0003270, HP:0001653)

CaseHPOFreeText: Chronic hydrocephalus-VP-shunt

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Activity of alpha-L-iduronidase in leukocytes was normal from 5 months after cessation of ERT.

CaseUrineGAGs: Patient had normal excretion of total urine GAGs - but a small fraction of dermatansulfate remained detectable upon electrophoresis of total urinary GAGs.

CaseERT: Yes - 13 weeks of ERT before HSCT. Continued until day 50 of HSCT.

CaseBMT: Yes - interval diagnosis for HSCT (15 weeks). The donor was female and unrelated.

Variant1: c.208C>T (p.Q70X)

Variant1ClinVarID: 11909

Variant1CAID: CA204563

Variant2: c.1631_1640del

Variant2ClinVarID: N/A

Variant2CAID: CA1433071867

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A