Bardet-Biedl syndrome 6
MONDO:0011523Mondo
Findings
No curated finding names Bardet-Biedl syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- ObesityHPOHP:0001513
- 7 of 7 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 7 of 7 reported patients
- Postaxial polydactylyHPOHP:0100259
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- Diabetes mellitusHPOHP:0000819
- 4 of 7 reported patients
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients · Male
- Renal cystHPOHP:0000107
- 2 of 7 reported patients
- Vaginal atresiaHPOHP:0000148
- 1 of 4 reported patients · Female
- 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.
- MKKSHGNC:7108
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: Bardet-Biedl syndrome 6
- Also called
- Bardet-Biedl syndrome type 6BBS6