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Macular Dystrophy/Stargardt Disease v0.45 CDH3 Sangavi Sivagnanasundram reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004398; Phenotypes: EEM syndrome MONDO:0009155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553