Patient4: Female

CasePresentingHPOs: HP:0004887, HP:0002194, HP:0001522

HPOsFreeText: ERT dosage = 20 mg/kg/2 w, able to hold objects, CRIM negative

CaseNotHPOs:

NotHPOsFreeText: no reversal of HCM

CaseAddInfo: Symptom onset and diagnosis at 2mo, ERT at 3.5mo, ERT lasted for 8mo, ventilation required at 11mo, died at 12mo

CasePMIDs: 22252923, 27629047

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.1657C>T

CAID: CA401368835, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1657C%3ET

gnomAD: n/a

Patient18: Male

CasePresentingHPOs: HP:0004887, HP:0003819

HPOsFreeText: ERT dosage = 20mg/kg/2w, able to hold objects, CRIM negative

CaseNotHPOs:

NotHPOsFreeText: No HCM reversal

CaseAddInfo: Symptom onset at 6mo, diagnosis and ERT at 12mo, ERT lasted for 9mo, required ventilation at 34mo, died at 42mo

CasePMIDs: 22252923, 27629047

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.1657C>T

CAID: CA401368835, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1657C%3ET

gnomAD: n/a