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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Waardenburg-Shah syndrome (WS4) pigmentation,Deafness,musculoskeletal,Hirschsprung Autosomal Recessive 13q22.3 Samesense EDNRB 831G>A Leu277Leu Jabeen et al., 2012/2012
Waardenburg-Shah syndrome (WS4) pigmentation,Deafness,musculoskeletal,Hirschsprung Autosomal Recessive 13q22.3 Missense EDNRB 1004G>C Ser335Cys Amino Acid Substitution Jabeen et al., 2012/2012
Waardenburg-Shah syndrome (WS4) pigmentation,Deafness,musculoskeletal,Hirschsprung Autosomal Recessive 13q22.3 Missense EDNRB 1082T>C Ser361Leu Amino Acid Substitution Jabeen et al., 2012/2012