Bardet-Biedl syndrome
Findings
No curated finding names Bardet-Biedl syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems
Definition from the Mondo Disease Ontology (MONDO:0015229), read 2026-09-29. CC BY 4.0.
Features
95 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.
- Retinal dystrophyHPOHP:0000556
- Obligate (100% of cases)
- Childhood-onset truncal obesityHPOHP:0008915
- Very frequent (80% to 99% of cases)
- Cone/cone-rod dystrophyHPOHP:0000548
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Frequent (30% to 79% of cases)
- Abnormal oral cavity morphology
Show the remaining 83
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
Genes
25 genes
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
- Supportive · Orphanet · Autosomal recessive · 2021
- BBIP1HGNC:28093
- Supportive · Orphanet · Autosomal recessive · 2021
- BBS1HGNC:966
- Supportive · Orphanet · Autosomal recessive · 2021
- BBS10HGNC:26291
- Supportive · Orphanet · Autosomal recessive · 2021
- BBS12HGNC:26648
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (22)
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 11
- Bardet-Biedl syndrome 12
- Bardet-Biedl syndrome 13
- Bardet-Biedl syndrome 14
- Bardet-Biedl syndrome 15
- Bardet-Biedl syndrome 16
- Bardet-Biedl syndrome 17
- Bardet-Biedl syndrome 18
- Bardet-Biedl syndrome 19
- Bardet-Biedl syndrome 2
- Bardet-Biedl syndrome 20
- bardet-biedl syndrome 21
- Bardet-Biedl syndrome 22
- Bardet-Biedl syndrome 3
- Bardet-Biedl syndrome 4
- Bardet-Biedl syndrome 5
- Bardet-Biedl syndrome 6
- Bardet-Biedl syndrome 7
- Bardet-Biedl syndrome 8
Other names
1 name
Resolves to: Bardet-Biedl syndrome
- Also called
- BBS