Table 2.
Extrarenal manifestations in nephronophthisis
| Ocular | |
| Isolated oculomotor apraxia (Cogan syndrome) | |
| Retinitis pigmentosa (Senior-Løken syndrome) | |
| Coloboma | |
| Nystagmus (Joubert syndrome) | |
| Ptosis (Joubert syndrome) | |
| Neurological | |
| Mental retardation (Joubert syndrome or isolated) | |
| Cerebellar ataxia with vermis hypoplasia (Joubert syndrome) | |
| Hypopituitarism (RHYNS syndrome) | |
| Liver | |
| Elevation of hepatic enzymes | |
| Fibrosis, biliary duct proliferation (Boichis syndrome) | |
| Skeletal | |
| Phalangeal cone-shaped epiphyses (Saldino-Mainzer or cono-renal syndrome) | |
| Short ribs (Jeune or asphyxiating thoracic dystrophy syndrome) | |
| Postaxial polydactyly | |
| Skeletal dysplasia (Sensenbrenner syndrome or cranioectodermal dysplasia) | |
| Other: | |
| Situs inversus | |
| Cardiac malformations | |
| Bronchitisa | |
| Sterilitya | |
| Hyperlipemiaa | |
| Ectodermal dysplasia (Sensenbrenner syndrome) |
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