| Disease ID | Source | Name | Description |
| 614926 | OMIM | Perrault syndrome 2 (PRLTS2) | A 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. |