| Disease ID | Source | Name | Description |
| 615300 | OMIM | Perrault syndrome 4 (PRLTS4) | An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. The disease is caused by variants affecting the gene represented in this entry. |
| 617021 | OMIM | Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) | A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. The disease is caused by variants affecting the gene represented in this entry. |