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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
Split Hand/Foot Malformation (ZAK) split hands & feet Autosomal Recessive 2q31 Missense ZAK 1103T>G Phe368Cys Amino Acid Substitution 0/Spielmann et al., 2016