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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
Ectodermal Dysplasia Type 5 (ECTD5) Hair & nail abnormalities Autosomal Recessive 10q24.32-q25.1 - - - - - 2005/Rafiq et al., 2005