616307 | SENIOR-LOKEN SYNDROME 8 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | WDR19 |
PS208500 | SHORT-RIB THORACIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | CEP120, DYNC2H1, IFT80, IFT172, EVC, EVC2, IFT140, TTC21B, KIAA0586, WDR35, WDR19, WDR34, WDR60, NEK1 |
PS218330 | CRANIOECTODERMAL DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | IFT43, IFT122, WDR19, WDR35 |
PS256100 | NEPHRONOPHTHISIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 15 | NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83 |