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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 (OCA3, TYRP1) White Skin, Golden Hair, Brown Iris Autosomal Recessive 9p23 Deletion TYRP1 647_668del Glu216-GlyfsX42 Frameshift and protein truncation 0/Kausar et al., 2013