Case#: Patient 4, Male, 1 year 8 months (diagnosed), 3 years (report), Deceased, Bizerte (Tunisian origin)

DiseaseAssertion: N/A

FamilyInfo: Parents are consanguineous between 1st cousins

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Leukocyte IDUA activity <0.1% (% normal) ; determined in sonicated leukocyte pellets using the artificial substrate 4-methylumbellifery IDUA

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Sequencing exons and intro-exon junctions; Phenol/chloroform procedure

Variant1: p.L530fs (c.1587_1588insGC)

Variant1ClinVarID: N/A

Variant1CAID: CA2580611004

Variant2: p.L530fs (c.1587_1588insGC)

Variant2ClinVarID: N/A

Variant2CAID: CA2580611004

AdditionalVariants: p.H33Q (c.99 T > G), p.R105Q (c.314G > A), p.N181N (c.543 T > C), IVS5-45 (c.590-45) G > C), IVS5-8 (c.590-8C > T), p.A314A (c.942G > C), IVS7+48(c.972+48A > G), IVS745(c.973- 45G > C), p.A361T (c.1081G > A), p.T388T (c.1164G > C), p.V454I (c.1360G > A), IVS9+36 (c.1402+36T > C), p.R489R (c.1467C > T), IVS12+72 (c.1727T > G)

ParentalGenotype: N/A

PreviouslyPublished N/A