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Syndromes featuring nephronophthisis or associated with mutations of NPHP genes
| Senior-Løken | |
| Cogan | |
| Joubert (type B) | |
| Meckel-Gruber | |
| Saldino-Mainzer (cono-renal syndrome) | |
| Sensenbrenner (cranioectodermal dysplasia) | |
| Ellis van Creveld (ectodermal dysplasia) | |
| Jeune (asphyxiating thoracic dystrophy syndrome) | |
| RHYNS (retinitis pigmentosa, hypopituitarism, and skeletal dysplasia) | |
| Alstrom (retinal dystrophy, hearing impairment, obesity, type 2 diabetes mellitus) | |
| Arima-Dekaban | |
| Boichis |
