| Disease ID | Source | Name | Description |
| 618116 | OMIM | Bone marrow failure syndrome 4 (BMFS4) | A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |