Bardet-Biedl syndrome 7
MONDO:0014435Mondo
Findings
No curated finding names Bardet-Biedl syndrome 7 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 BBS7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014435), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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.
- 2-3 toe syndactylyHPOHP:0004691
- 2 of 2 reported patients
- ClinodactylyHPOHP:0030084
- 2 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- HypogonadismHPOHP:0000135
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
Show the remaining 1
- Rod-cone dystrophyHPOHP:0000510
- 6 of 7 reported patients
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.
- BBS7HGNC:18758
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 7
- Also called
- Bardet-Biedl syndrome caused by mutation in BBS7Bardet-Biedl syndrome type 7BBS7BBS7 Bardet-Biedl syndrome