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Up to: Autosomal recessive disease · Ciliopathy
CEP164-related ciliopathy
Any ciliopathy caused by variants in the CEP164 gene. This disease is characterized by a broad range of phenotypes including various combinations of nephronophthisis, respiratory system impact, retinal degeneration, developmental delay, CNS malformations, polydactyly, bronchiectasis and obesity.
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Nephronophthisis 15 0 trials