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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
Wilson Disease(ATP7B) neurological,psychiatric mani- festations Autosomal Recessive 13q14.3 Missense Mutation ATP7B 813C>A Cys271* Amino acid substitution 0/Khan HN et.al.,,2018