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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 4 (ECTD4, KRT85) Hair & nail abnormalities Autosomal Recessive 12q12-q14.1 Missense KRTHB5 233G>A Arg78His Amino Acid Substitution 2006/Naeem et al., 2006
Ectodermal Dysplasia Type 4 (ECTD4, KRT85) Hair & nail abnormalities Autosomal Recessive 12q12-q14.1 Deletion KRTHB5 1448_1449delCT Pro483Argfs*18 Frame shift mutation & PTC 2010/Shimomura et al., 2010