| Disease ID | Source | Name | Description |
| 618419 | OMIM | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (GDRM) | An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. The disease is caused by variants affecting the gene represented in this entry. |
| 618420 | OMIM | Spermatogenic failure 36 (SPGF36) | An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. The disease may be caused by variants affecting the gene represented in this entry. |