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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
CamptodactylyArthropathyCoxaVaraPericarditi (PRG4) Joints, tendons, pericardium defects Autosomal Recessive 1q31.1 Deletion PRG4 2816_2817delAA Lys939fs*38 Frame shift mutation & PTC Basit et al., 2011/2011