Bardet-Biedl syndrome 11
MONDO:0014439Mondo
Findings
No curated finding names Bardet-Biedl syndrome 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.
Definition from the Mondo Disease Ontology (MONDO:0014439), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypogonadismHPOHP:0000135
- ObesityHPOHP:0001513
- PolydactylyHPOHP:0010442
- RetinopathyHPOHP:0000488
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.
- TRIM32HGNC:16380
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · ClinGen · Autosomal recessive · 2024
- Limited · G2P · Autosomal recessive · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Limited · Natera · Unknown · 2025
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 11
- Also called
- Bardet-Biedl syndrome caused by mutation in TRIM32Bardet-Biedl syndrome type 11BBS11TRIM32 Bardet-Biedl syndrome