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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Oculocutaneous Albinism (OCA5) Golden Hair, White Skin and Foveal Hypoplasia Autosomal Recessive 4q24 - Not Reported - - - 0/Kausar et al., 2013