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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 3 (AHI1) Neurologic problem,RP,Renal anamolies Autosomal Recessive 6q23.3 Duplication AHI1 2370dup Lys791* Premature Termination Utsch et al., 2006/2006
Joubert Syndrome 3 (JBTS3, AHI1) Neurologic problem,RP,Renal anamolies Autosomal Recessive 6q23.3 Nonsense AHI1 2370dup Lys791* Premature Termination Utsch et al., 2006/2006