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Skeletal dysplasia v0.0 | PDE3A |
Zornitza Stark gene: PDE3A was added gene: PDE3A was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE3A were set to 25961942; 9696728 Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, 112410 Mode of pathogenicity for gene: PDE3A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |