Patient1: male

CasePresentingHPOs: HP:0004887, HP:0003698, HP:0002194, HP:0001522

HPOsFreeText: ERT dosage = 20 mg/kg/2, HCM reversal

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Symptom onset at 2 days, diagnosis at 2 weeks, ERT at 3 weeks, ventilation required at 23mo. ERT lasted for 20mo, died at 24mo.

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.1753_2799del

CAID: CA913184762, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184762

gnomAD: n/a