Bardet-Biedl syndrome 8
MONDO:0014436Mondo
Findings
No curated finding names Bardet-Biedl syndrome 8 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 TTC8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014436), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
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.
- BrachycephalyHPOHP:0000248
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- ObesityHPOHP:0001513
- 8 of 8 reported patients
- Postaxial polydactylyHPOHP:0100259
- 8 of 8 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 8 of 8 reported patients
- HypogonadismHPOHP:0000135
- 5 of 6 reported patients
- Situs inversus totalisHPOHP:0001696
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.
- TTC8HGNC:20087
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 8
- Also called
- Bardet-Biedl syndrome caused by mutation in TTC8Bardet-Biedl syndrome type 8BBS8TTC8 Bardet-Biedl syndrome