Case#: II-2, Female, 2 years (onset), Chinese

DiseaseAssertion: MPS 1

FamilyInfo: I-1 and I-2 are the parents, II-4 is a full sibling of II-2 and a full child of I-1 and I-2. II-4 also carries the disease. (pedigree is figure # 1).

CasePresentingHPOs: HP:0001367, HP:0000622, HP:0007663, HP:0001718, HP:0001643, HP:0001698, HP:0000238, (Abnormal joints, Blurred vision, Decreased vision, Mitral stenosis (severe), Patent ductus arteriosus (tubular), Pericardial effusion (moderate), Hydrocephalus)

CaseHPOFreeText: Abnormal mitral valve development, Anterior mitral valve prolapses and insufficiency (moderate), Pulmonary hypertension (moderate), Bilateral temporal arachnoid cyst, Congenital spinal stenosis, Congenital glaucoma, Corneal gray degeneration, Corneal staphyloma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Sanger Sequencing

Variant1: c.1037T>G

Variant1ClinVarID: 11927

Variant1CAID: CA256128

Variant2: c.18115dupT

Variant2ClinVarID: 1454082

Variant2CAID: CA2573137507

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished: N/A