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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
EVC2 skeletal,dental,nail & cardiac defects Autosomal Recessive 4p16 Nonsense EVC2 702G>A Trp234* Premature Termination Aziz et al., 2016/2016
EVC2 skeletal,dental,nail & cardiac defects,DEM Autosomal Recessive 4p16 Duplication EVC2 30dupC Thr11Hisfs*45 FS & PTC Umair et al., 2017/2017