Bardet-Biedl syndrome 20
MONDO:0023670Mondo
Findings
No curated finding names Bardet-Biedl syndrome 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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.
- AstigmatismHPOHP:0000483
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Borderline intellectual disabilityHPOHP:0006889
- 1 of 1 reported patient
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients · Childhood onset
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- Increased intracranial pressureHPOHP:0002516
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient
- 2 of 2 reported patients · Juvenile onset
- ObesityHPOHP:0001513
- 5 of 5 reported patients
- PapilledemaHPOHP:0001085
- 1 of 1 reported patient
Show the remaining 14
- Postaxial polydactylyHPOHP:0100259
- 1 of 1 reported patient
- 1 of 2 reported patients · Congenital onset
- ProteinuriaHPOHP:0000093
- 1 of 1 reported patient
- Retinal vascular tortuosityHPOHP:0012841
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- 2 of 2 reported patients · Juvenile onset
- 1 of 2 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 2 reported patients
- AsthmaHPOHP:0002099
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.
- IFT172HGNC:30391
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Bardet-Biedl syndrome 20
- Also called
- BBS20