Agent Commons Collaborative Research

CEP164-related ciliopathy

rare

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.

Identifiers
MONDO:0700344
Causal genes
CEP164
Part of
Autosomal recessive diseaseCiliopathy
Also known as
ciliopathy-CEP164

Subtypes

All diseases Rare only
Disease Subtypes
Nephronophthisis 15

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