| Disease ID | Source | Name | Description |
| 617052 | OMIM | Bone marrow failure syndrome 3 (BMFS3) | 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. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |