Case#: P11, Female, 15.5 years (diagnosed), 15.7 (report), 33 kg (weight), 142 cm (height), Algerian

DiseaseAssertion: Scheie Syndrome

FamilyInfo: Parents are consanguineous

CasePresentingHPOs: HP:0001999, HP:0000943, HP:0001387, HP:0001387, HP:0000365, HP:0007957 (Facial Dysmorphic Features, Multiple Dysostosis, Joint Stiffness, Hernia(Ombelical), Deafness(mixed), Corneal Opacity)

CaseHPOFreeText: Cardiac Manifestations (Mitral Insufficiency)

CaseNotHPOs: HP:0001249, HP:0000238 (Mental Retardation, Hydrocephalus)

CaseNotHPOFreeText: HM/HSM, Chronic Rhinorrhea

CaseEnzymeAssay: IDUA Enzyme activity 5 (% to the reference range mean)

CaseUrineGAGs: GAG quantitation 10 (fold change to the reference range mean according to age)

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Direct DNA Fragments Sequencing

Variant1: c.532G>A (p.Glu178Lys)

Variant1ClinVarID: 12203495

Variant1CAID: CA355961709

Variant2: c.532G>A (p.Glu178Lys)

Variant2ClinVarID: 2203495

Variant2CAID: CA355961709

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 13, 9 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding (HP:0000280, HP:0001433, HP:0002828, HP:0007957)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.2% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.532G>A (p.Glu178Lys)

Variant1ClinVarID: 2203495

Variant1CAID: CA355961709

Variant2: c.532G>A (p.Glu178Lys)

Variant2ClinVarID: 2203495

Variant2CAID: CA355961709

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A