Bardet-Biedl syndrome 16
Findings
No curated finding names Bardet-Biedl syndrome 16 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 SDCCAG8 gene.
Definition from the Mondo Disease Ontology (MONDO:0014444), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- ObesityHPOHP:0001513
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
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.
- SDCCAG8HGNC:10671
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 16
- Also called
- Bardet-Biedl syndrome caused by mutation in SDCCAG8Bardet-Biedl syndrome type 16BBS16SDCCAG8 Bardet-Biedl syndrome