Patient19: Male

CasePresentingHPOs: HP:0004887, HP:0011471, HP:0002546, HP:0001371

HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = ≤ 1:400, tracheostomy, able to sit independently, heart normalization, moderate periventricular white matter abnormalities (hypomyelination)

CaseNotHPOs: HP:0000365

NotHPOsFreeText: infusion associated reaction

CaseAddInfo: variants in trans, symptom onset at 10 days, diagnosis and ERT at 3 years

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1802C>G (p.Ser601Trp)

ClinVar: 501793, https://www.ncbi.nlm.nih.gov/clinvar/variation/501793/

gnomAD: n/a

Variant2: NM_000152.3:c.2800-1G>C

CAID: CA401327625, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401327625

gnomAD: n/a