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Phenotypic characteristics and genotypes for MEF2C of the affected family members.
| Individual | Gender | Age (years) | Cardiac phenotype | MEF2C mutation |
|---|---|---|---|---|
| Family A | L38P | |||
| I-1 | M | 58* | PDA, VSD, PS | NA |
| II-1 | M | 32 | PDA, PS | +/- |
| II-5 | M | 26 | PDA, VSD | +/- |
| III-1 | F | 5 | PDA | +/- |
| III-4 | M | 1 | PDA, VSD | +/- |
M, male; F, female; PDA, patent ductus arteriosus; VSD, ventricular septal defect; PS, pulmonary stenosis; NA, not available; +/-, heterozygote.
*Age at death.
