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Skeletal dysplasia v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Expert Review,Expert,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL9A3 were set to MED; Mutiple Epiphyseal Dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, with myopathy; Stickler syndrome type VI; multiple epiphyseal dysplasia; multiple epiphyseal dysplasia 3, with or without myopathy - 600969