| Disease ID | Source | Name | Description |
| 615715 | OMIM | Bone marrow failure syndrome 2 (BMFS2) | An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. The disease is caused by variants affecting the gene represented in this entry. |