Case#: 1 (18 y, female, symptom onset/pain+movement limitation 10y, carpal tunnel syndrome surgery 16y, diagnosis 18y)

DiseaseAssertion: Scheie syndrome

FamilyInfo: "female patient, brother, and male cousin born to consanguineous parents" Based on pedigree (Figure 4), the cousins are related through their mothers but the degree of consanguinity is not clear

CasePresentingHPOs: 0034337

CaseHPOFreeText: claw hands with flexion contractures; electroneurology showed bilateral signs of severe median nerve suffering.

CaseNotHPOs: HP:0000280; HP:0001510; HP:0000943

CaseNotHPOFreeText: no coarse face, growth failure, other joint involvement, evidence of dysostosis multiplex of other bones. Normal intelligence, ophthalmologic, hearing and echocardiography, brain MRI

CaseEnzymeAssay: 0.36 (umol/g/h)

CaseUrineGAGs:

CaseERT: Yes, after diagnosis at 18y

CaseBMT:

Variant1:c.521delA

Variant1ClinVarID:

Variant1CAID: CA2586973518

Variant2: 521delA

Variant2ClinVarID:

Variant2CAID: CA2586973518

AdditionalVariants:

ParentalGenotype:

PreviouslyPublished