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| Skeletal ciliopathies v0.1 | CEP120 |
Eleanor Williams gene: CEP120 was added gene: CEP120 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to 29847808 Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly; Jeune syndrome; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 |
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