Bardet-Biedl syndrome 13
MONDO:0014441Mondo
Findings
No curated finding names Bardet-Biedl syndrome 13 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 MKS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014441), 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- ObesityHPOHP:0001513
- 8 of 8 reported patients
- PolydactylyHPOHP:0010442
- 8 of 8 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 7 of 8 reported patients
- Global developmental delayHPOHP:0001263
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.
- MKS1HGNC:7121
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 13
- Also called
- Bardet-Biedl syndrome caused by mutation in MKS1Bardet-Biedl syndrome type 13BBS13MKS1 Bardet-Biedl syndrome