| Disease ID | Source | Name | Description |
| 616959 | OMIM | Retinitis pigmentosa and erythrocytic microcytosis (RPEM) | An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia. The disease is caused by variants affecting the gene represented in this entry. |
| 616084 | OMIM | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) | An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry. |