×

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 (MC1R) Reddish blonde Hair and Light brownish Iris Autosomal Recessive 16q24.3 Substitution MC1R 917G>A Arg306His Missense 0/Saleha et al., 2013