Bardet-Biedl syndrome 2
MONDO:0014432Mondo
Findings
No curated finding names Bardet-Biedl syndrome 2 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 BBS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014432), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
36 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.
- Chronic kidney diseaseHPOHP:0012622
- 2 of 2 reported patients
- Dental crowdingHPOHP:0000678
- 1 of 1 reported patient
- Dilatation of the renal pelvisHPOHP:0010946
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- HypogonadismHPOHP:0000135
Show the remaining 24
- Peripheral visual field lossHPOHP:0007994
- 1 of 1 reported patient
- PolydipsiaHPOHP:0001959
- 1 of 1 reported patient
- PolyuriaHPOHP:0000103
- 1 of 1 reported patient
- Postaxial hand polydactylyHPOHP:0001162
- 14 of 14 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 14 of 14 reported patients
- Ultra-low vision with retained light projectionHPOHP:0032285
- 2 of 2 reported patients
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.
- BBS2HGNC:967
- 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
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 2
- Also called
- Bardet-Biedl syndrome caused by mutation in BBS2Bardet-Biedl syndrome type 2BBS2BBS2 Bardet-Biedl syndrome