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.
MONDO:0005308
ciliopathy
is_a
MONDO:0006025
autosomal recessive disease
is_a
ciliopathy-CEP164
exact