Case#: Patient 3, Egyptian, female, 3 years old

DiseaseAssertion: MPS1-H

FamilyInfo: Parents were nonconsanguineous

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.421A>T (p.T141S)

Variant1ClinVarID: N/A

Variant1CAID: CA355961378

Variant2: c.299+6C>T (in the paper the variant is labeled as c.IVS2+6C>T which is old nomenclature)

Variant2ClinVarID: 92640

Variant2CAID: CA145880

AdditionalVariants: A8A, A20A, N297N, IVS11 (3318)C>A, IVS10 (3122)T>C - these are not the current nomenclatures for these variants but they are identified as polymorphisms in the article

ParentalGenotype: All mutations were confirmed in the parental DNA

PreviouslyPublished N/A

Case#: Second patient

DiseaseAssertion: MPS-I

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.299+6C>T

Variant1ClinVarID: 92640

Variant1CAID: CA145880

Variant2: c.653T>C (p.L218P)

Variant2ClinVarID: 222995

Variant2CAID: CA356986

AdditionalVariants: c.1205G>A (p.W402X), ClinVarID: 11908, CAID:CA220498

ParentalGenotype: Parental studies demonstrated that the c.299+6C>T and p.L218P changes are in cis.

PreviouslyPublished N/A