Case#: Infant (Pregnancy was terminated at 35 gestational weeks due to severe MPS I diagnosis, weight of 3140 g (94th percentile), length of 48 cm (80th percentile), occipitofrontal circumference of 34 cm (83rd percentile).

DiseaseAssertion: MPS1

FamilyInfo: Proband 1's mother and father were not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Mother had previously had given birth to a healthy infant.

CasePresentingHPOs: Single umbilical artery, hepatosplenomegaly, hepatomegaly, coarse facial features, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly (HP:0001195, HP:0001433, HP:0002240, HP:0000280, HP:0000455, HP:0000347, HP:0000219, HP:0000316, HP:0001357)

CaseHPOFreeText: Dysmorphic features (including a long and broad philtrum), a few echogenic spots in the liver, spleen, peritoneum, and thymus, hepatic overhang of 4 cm, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds, and micro vacuolized appearance of Hofbauer cells.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: Deficiency in α-L-iduronidase activity. Measure value was 0.3 µkat/kg with a laboratory control of 33.8 µkat/kg.

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.590G>A (p.G197D)

Variant1ClinVarID: 554670

Variant1CAID: CA91167598

Variant2: c.1139dup (p.L381Afs*18)

Variant2ClinVarID: 3340107

Variant2CAID: CA3046517234

AdditionalVariants: N/A

ParentalGenotype: c.590G>A (inherited from the mother), c.1139dup (inherited from the father)

PreviouslyPublished N/A