| Median age at 2 months; neonates (16% of the cases); hydrops fetalis |
| Aregenerative usually macrocytic anemia |
| Erythroblastopenia in an otherwise normocellular bone marrow |
| Malformations in particular cleft palate, thumbs anomalies, heart and urogenital tract anomalies |
| Short stature, including intrauterine growth retardation |
| eADA elevation |
| Fetal erythropoiesis features (elevated HbF percentage after 6 months) |
| Complications of pregnancy |
| Malignancies |
| Very rarely aplastic anemia |
| Median age at 2 months; neonates (16% of the cases); hydrops fetalis |
| Aregenerative usually macrocytic anemia |
| Erythroblastopenia in an otherwise normocellular bone marrow |
| Malformations in particular cleft palate, thumbs anomalies, heart and urogenital tract anomalies |
| Short stature, including intrauterine growth retardation |
| eADA elevation |
| Fetal erythropoiesis features (elevated HbF percentage after 6 months) |
| Complications of pregnancy |
| Malignancies |
| Very rarely aplastic anemia |