Bardet-Biedl syndrome 3
MONDO:0010832Mondo
Findings
No curated finding names Bardet-Biedl syndrome 3 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
11 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.
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- NyctalopiaHPOHP:0000662
- 7 of 7 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 7 of 7 reported patients
- Postaxial polydactylyHPOHP:0100259
- 31 of 31 reported patients
- Visual impairmentHPOHP:0000505
- 7 of 7 reported patients
- ObesityHPOHP:0001513
- 23 of 31 reported patients
- Intellectual disabilityHPOHP:0001249
- 13 of 19 reported patients
- Renal hypoplasiaHPOHP:0000089
- 1 of 12 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 1 of 12 reported patients
- External genital hypoplasiaHPOHP:0003241
- Rod-cone dystrophyHPOHP:0000510
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.
- ARL6HGNC:13210
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: Bardet-Biedl syndrome 3
- Also called
- Bardet-Biedl syndrome type 3BBS3