Patient15: female

CasePresentingHPOs: HP:0001371

HPOsFreeText: Anti-rh GGA antibodies maximum titer = ≤ 1:400, heart normalization, moderate periventricular white matter abnormalities (hypomyelination)

CaseNotHPOs: HP:0004887, HP:0025156, HP:0002355, HP:0002546, HP:0000365

NotHPOsFreeText: infusion associated reaction

CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 5 days, ERT at 8 days

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.3:c.955+1G>A

CAID: CA401364293, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.955%2B1G%3EA

gnomAD: n/a

Variant2: NM_000152.4(GAA):c.1438-2A>G

ClinVar: 526521, https://www.ncbi.nlm.nih.gov/clinvar/variation/526521/

gnomAD: n/a