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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 9 (JBTS9, CC2D2A) Neurologic problem,RP,Renal anamolies Autosomal Recessive 4p15.32 Splice site CC2D2A 2003+1G>C Frame shift mutation Noor et al., 2008/2008