Clinical Research Directory

Inclusion Criteria Participants were eligible for inclusion if they met at least one of the following criteria: 1. Generalized arterial calcification of infancy (GACI) genotype, defined as two pathogenic mutations in ENPP1 and/or ABCC6, confirmed by mutational analysis, and a GACI phenotype confirmed by imaging or biopsy. 2. GACI phenotype confirmed by imaging or biopsy, with mutational analysis demonstrating that each parent carried at least one mutation in ENPP1 and/or ABCC6. 3. Biallelic mutations in ENPP1 and a clinical phenotype consistent with ENPP1 Deficiency. 4. Mutational analysis demonstrating that each parent carried at least one mutation in ENPP1, together with clinical signs and symptoms consistent with ENPP1 Deficiency in the participant. 5. Availability of medical records and source documentation sufficient for retrospective review. Exclusion Criteria 1. Insufficient medical records, imaging studies, or source documentation to support retrospective data collection. 2. Diagnosis not consistent with ENPP1 Deficiency, GACI, or early-onset ABCC6 Deficiency. 3. Inability to obtain informed consent from the participant or legally authorized representative, as required by local regulations.