Bardet-Biedl syndrome 12
MONDO:0014440Mondo
Findings
No curated finding names Bardet-Biedl syndrome 12 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 BBS12 gene.
Definition from the Mondo Disease Ontology (MONDO:0014440), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- Cystic renal dysplasiaHPOHP:0000800
- 2 of 2 reported patients
- HypogonadismHPOHP:0000135
- 2 of 2 reported patients
- PolydactylyHPOHP:0010442
- 3 of 3 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 3 of 3 reported patients
- Abdominal massHPOHP:0031500
- 1 of 2 reported patients
- HydrometrocolposHPOHP:0030010
- 1 of 2 reported patients
- HydronephrosisHPOHP:0000126
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.
- BBS12HGNC:26648
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 12
- Also called
- Bardet-Biedl syndrome caused by mutation in BBS12Bardet-Biedl syndrome type 12BBS12BBS12 Bardet-Biedl syndrome