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Skeletal ciliopathies v0.1 | IFT80 |
Eleanor Williams gene: IFT80 was added gene: IFT80 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 |