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| Skeletal dysplasia v0.0 | DYNC2H1 |
Zornitza Stark gene: DYNC2H1 was added gene: DYNC2H1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to 21211617 Phenotypes for gene: DYNC2H1 were set to Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091; Asphyxiating thoracic dystrophy 3, 613091Short rib-polydactyly syndrome, type III, 263510Short rib-polydactyly syndrome, type IIB, 615087; Short rib polydactyly syndrome (SRPS) type 1/3 (Saldino-Noonan/Verma-Naumoff) |
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