6 CC, CFF, DM, HM, SM Hurler–Scheie No 4 years Male [c.223G>A] + [c.895G>T] [p.Ala75Thr] + [p.Glu299*] [2] + [7] Known 0(R*) No No
Case#: Uttarilli Patient 6, male, 4yo at presentation
DiseaseAssertion: MPS1, Hurler-Scheie
FamilyInfo: non-consanguineous
CasePresentingHPOs: HP:0007957, HP:0000280, HP:0000943, HP:0002240, HP:0001744
CaseHPOFreeText: IDUA enzyme activity=0 (reference = 11–26 nmol/h/mg)
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: PCR of all exons of IDUA and IDS genes and bidirectional sequencing
PreviouslyPublished:
Variant: [c.223G>A] [p.Ala75Thr]; [c.895G>T] [p.Glu299*]
CAID: CA356994; CA355962511
SupplementalData: n/a