Patient16: Male

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

HPOsFreeText: ERT dosage = 29mg/kg/2w

CaseNotHPOs:

NotHPOsFreeText: No HCM reversal

CaseAddInfo: Symptom onset at 2days, diagnosis and ERT at 10mo, ERT lasted for 6mo, required ventilation at 11mo, died at 16mo

CasePMIDs: 14695532

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.1431del

CAID: CA502178465, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA502178465

gnomAD: n/a