Bardet-Biedl syndrome 5
MONDO:0014434Mondo
Findings
No curated finding names Bardet-Biedl syndrome 5 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 BBS5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014434), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Juvenile onset
HPO, annotations 2026-09-02
Features
19 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
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 12 of 12 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- HypodontiaHPOHP:0000668
- 1 of 1 reported patient
- HypogonadismHPOHP:0000135
- 1 of 1 reported patient
- MicropenisHPOHP:0000054
- 2 of 2 reported patients · Male
- Mild intellectual disabilityHPOHP:0001256
Show the remaining 7
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Macular atrophyHPOHP:0007401
- 1 of 2 reported patients
- Postaxial polydactylyHPOHP:0100259
- 2 of 4 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 1 of 2 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 2 reported patients
- Macular dystrophyHPOHP:0007754
- 1 of 5 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.
- BBS5HGNC:970
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · 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 5
- Also called
- Bardet-Biedl syndrome caused by mutation in BBS5Bardet-Biedl syndrome type 5BBS5BBS5 Bardet-Biedl syndrome