Patient27: Male

CasePresentingHPOs: HP:0000365

HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = ≤ 1:400, moderate periventricular white matter abnormalities (hypomyelination), progressive deterioration of MRI parameters

CaseNotHPOs: HP:0004887, HP:0025156, HP:0002355, HP:0002546, HP:0001371

NotHPOsFreeText: infusion associated reaction, heart normalization

CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 3yo, ERT at 4yo

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.1465G>A (p.Asp489Asn)

ClinVar: 92465, https://www.ncbi.nlm.nih.gov/clinvar/variation/92465/

gnomAD: 0.00001195, http://gnomad.broadinstitute.org/variant/17-78084553-G-A

Variant2: NM_000152.3:c.40_47del

CAID: CA913184761, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184761

gnomAD: n/a