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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 24 (JBTS24, TCTN2) Neurologic problem,RP,Renal anamolies Autosomal Recessive 12q24.31 Nonsense TCTN2 1873C>T Gln625* Premature Termination Sang et al., 2011/2011