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Syndromic Retinopathy v0.0 | ABHD12 |
Bryony Thompson gene: ABHD12 was added gene: ABHD12 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 |