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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 7 (ECTD7, KRT74) Hair & nail abnormalities Autosomal Recessive 12p11.1 Missense KRT74 821T>C Phe274Ser Amino Acid Substitution 2014/Raykova et al., 2014