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A reference for what the literature reports. Not medical advice.

Disease

BBS4-related ciliopathy

MONDO:1040044Mondo

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Findings

No curated finding names BBS4-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 BBS4 gene.

Definition from the Mondo Disease Ontology (MONDO:1040044), 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.

BBS4HGNC:969
- Definitive · ClinGen · Autosomal recessive · 2023

Where it sits

A kind of: ciliopathy
Narrower terms (1): Bardet-Biedl syndrome 4