21/M
Case#: 21, Male, 1 month (onset), 1 month (diagnosed), 12 months (report)
DiseaseAssertion: Hurler Syndrome
FamilyInfo: N/A
CasePresentingHPOs: HP:0002240, HP:0000280, HP:0000943, HP:0007957 (Hepatomegaly (mild at diagnosis and none at 12m), Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)
CaseHPOFreeText: (Mental Development (delayed since infancy), Mild LV hypertrophy, Inguinal bilat. and Umbilical Hernia)
CaseNotHPOs: HP:0001387, HP:0001744 (Joint Stiffness, Splenomegaly)
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
GenotypingMethod: Not Provided
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A