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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
Hennekam Syndrome (CCBE1) lymphatic dysplasia, MR, dysmorphic features Autosomal Recessive 18q21.32 Missense CCBE1 294 T>G Cys98Trp Amino Acid Substitution Frosk et al., 2015/2015
Hennekam Syndrome 1 (CCBE1) lymphatic dysplasia,MR,dysmorphism Autosomal Recessive 18q21.32 Missense CCBE1 294 T>G Cys98Trp Amino Acid Substitution Frosk et al., 2015/2015