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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) Pale Skin and Hair Colour Autosomal Recessive 9p23 Substitution TYRP1 1117C>T R373X Nonsense 0/Forshew et al., 2005