×

Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Cenani?Lenz Syndrome (LRP4) Limbs disorder,kidney agenesis,Teeth problem Autosomal Recessive 11p11.2 Missense LRP4 2858T>C Leu953Pro Amino Acid Substitution Khan et al., 2013/2013