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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 5 (JBTS5, CEP290) Neurologic problem,RP,Renal anamolies Autosomal Recessive 12q21.32 Nonsense CEP290 5668G>T Gly1890* Premature Termination Sayer et al., 2006/2006