×

Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Ellis-van Creveld syndrome Skeletal, ectodermal and cardiac defects Autosomal Recessive 4p16 Missense EVC 617G>A Ser206Asn Amino Acid Substitution Kalsoom et al., 2010/2010
EVC skeletal,dental,nail & cardiac defects Autosomal Recessive 4p16 Missense EVC 617G>A Ser206Asn Amino Acid Substitution Kalsoom et al., 2010/2010
EVC skeletal,dental,nail & cardiac defects Autosomal Recessive 4p16 Duplication EVC 1932_1946dup 15bp Aziz et al., 2016/2016