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Syndromic Retinopathy v0.0 | PRPS1 |
Bryony Thompson gene: PRPS1 was added gene: PRPS1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |