CEP164-related ciliopathy

MONDO:0700344

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.

Also known as: ciliopathy-CEP164

0 clinical trials for this condition and its sub-types, 0 tagged with CEP164-related ciliopathy itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (999) ↑ Ciliopathy (49)

Sub-types of CEP164-related ciliopathy

Nephronophthisis 15 0 trials

Including sub-types (0) Tagged with CEP164-related ciliopathy (0)

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