Case#: Subject number 1, male, 22 years (report), 9 years (onset), 11 years (diagnosis)

DiseaseAssertion: Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0002650, HP:0001638 (Scoliosis, cardiomyopathy)

CaseHPOFreeText: on BiPap, ambulatory

CaseNotHPOs: HP:0002617, HP:0000365, HP:0000360, HP:0000939, HP:0009830, HP:0100647, HP:0010788, HP:0000821 (aneurysm, hearing loss, tinnitus, osteoporosis, peripheral neuropathy, Graves disease, Testicular cancer, hypothyroidism)

CaseNotHPOFreeText: No infusion reaction, no tracheostomy

CasePreviousTesting: “documented deficiency of acid alpha-glucosidase enzyme activity”; on enzyme replacement therapy

Variant 1: NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)

Variant 1 ClinVarID:279811

Variant 1 CAid:CA8815429

Variant 1 gnomAD MAF: 0.00007053; 8/113426 (European non-Finnish)[https://gnomad.broadinstitute.org/variant/17-78085800-T-C?dataset=gnomad_r2_1]

Variant 2: NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)

Variant 2 ClinVarID:265160

Variant 2 CAid:CA9301331

Variant 2 gnomAD MAF: 0.0005673; 73/128684 (European non-Finnish)[https://gnomad.broadinstitute.org/variant/17-78090815-G-C?dataset=gnomad_r2_1]

Zygosity: Compound heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A