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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
Joubert Syndrome 8 (ARL13B) Neurologic problem,RP,Renal anamolies Autosomal Recessive 3q11.1-q11.2 Missense ARL13B 236G>A Arg79Gln Amino Acid Substitution Cantagrel et al., 2008/2008
Joubert Syndrome 8 (JBTS8, ARL13B) Neurologic problem,RP,Renal anamolies Autosomal Recessive 3q11.1-q11.2 Missense ARL13B 236G>A Arg79Gln Amino Acid Substitution Cantagrel et al., 2008/2008