Bardet-Biedl syndrome 9
MONDO:0014437Mondo
Findings
No curated finding names Bardet-Biedl syndrome 9 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 BBS9 gene.
Definition from the Mondo Disease Ontology (MONDO:0014437), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
23 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HyperglycemiaHPOHP:0003074
- 1 of 1 reported patient
- Irregular menstruationHPOHP:0000858
- 1 of 1 reported patient
- PolydipsiaHPOHP:0001959
Show the remaining 11
- Rod-cone dystrophyHPOHP:0000510
- 4 of 4 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- SyndactylyHPOHP:0001159
- 2 of 2 reported patients
- Truncal obesityHPOHP:0001956
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 3 of 5 reported patients
- AstigmatismHPOHP:0000483
- 1 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.
- BBS9HGNC:30000
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 9
- Also called
- Bardet-Biedl syndrome caused by mutation in BBS9Bardet-Biedl syndrome type 9BBS9BBS9 Bardet-Biedl syndrome