CEP164-related ciliopathy
Findings
No curated finding names CEP164-related ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0700344), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CEP164HGNC:29182
- Definitive · ClinGen · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: CEP164-related ciliopathy
- Also called
- ciliopathy-CEP164