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| Skeletal ciliopathies v0.1 | IFT172 |
Eleanor Williams gene: IFT172 was added gene: IFT172 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 24140113 Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71, 616394; Short-rib thoracic dysplasia 10 with or without polydactyly; Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 |
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