| Category | Gene | Protein/Syndrome Disease | Inheritance | OMIM # |
|---|---|---|---|---|
| RHYNS (retinitis pigmentosa, hypopituitarism, and skeletal dysplasia) | TMEM67 | - | AR | 609884 |
| Alstrom (retinal dystrophy, hearing impairment, obesity, type 2 diabetes mellitus) | ALMS1 | - | AR | 203800 |
| Cogan syndrome | - | - | AR | - |
| Jeune syndrome (asphyxiating thoracic dystrophy syndrome) | Variable | - | AR | Variable |
| Meckel-Gruber syndrome | Variable | - | AR | Variable |
| Joubert syndrome | Variable | - | AR | Variable |
| Senior-Loken syndrome | Variable | - | AR | Variable |
