Bardet-Biedl syndrome 14
Findings
No curated finding names Bardet-Biedl syndrome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
Definition from the Mondo Disease Ontology (MONDO:0014442), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- Renal insufficiencyHPOHP:0000083
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- PolydactylyHPOHP:0010442
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.
- CEP290HGNC:29021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: Bardet-Biedl syndrome 14
- Also called
- Bardet-Biedl syndrome 14, modifier ofBardet-Biedl syndrome type 14BBS14