Bardet-Biedl syndrome 18
MONDO:0014446Mondo
Findings
No curated finding names Bardet-Biedl syndrome 18 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 BBIP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014446), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- Renal insufficiencyHPOHP:0000083
- 1 of 1 reported patient
- Retinal dystrophyHPOHP:0000556
- 1 of 1 reported patient
- 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.
- BBIP1HGNC:28093
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Bardet-Biedl syndrome 18
- Also called
- Bardet-Biedl syndrome caused by mutation in BBIP1Bardet-Biedl syndrome type 18BBIP1 Bardet-Biedl syndromeBBS18