| Disease ID | Source | Name | Description |
| 609981 | OMIM | Immunodeficiency 54 (IMD54) | An autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. The disease is caused by variants affecting the gene represented in this entry. |