Society of Diabetic Nephropathy Prevention Journal of Preventive Epidemiology 2476-3934 2 2 2017 07 01 Joubert’s syndrome presenting as end-stage renal disease; a case report e10 e10 EN Indhumathi Elayaperumal Deepashree Goravigere Anandkumar Jayakumar Macha Journal Article 2017 02 08 2017 04 10 Joubert’s syndrome is a genetically heterogeneous and autosomal recessive inherited disorder characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. Molar tooth sign and molecular diagnosis is the key diagnostic feature for this disease. However, existing diagnostics method of Joubert’s syndrome is challenging, due to extremely clinically and genetically heterogeneous, overlapping with several other ciliopathies. Here we report the clinical findings and the clinical course of end-stage renal disease (ESRD) in early childhood in Joubert syndrome.