Bardet-Biedl syndrome 4
MONDO:0014433Mondo
Findings
No curated finding names Bardet-Biedl syndrome 4 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
4 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.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients · Male
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients · Juvenile onset
- SyndactylyHPOHP:0001159
- 2 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 3 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.
- BBS4HGNC:969
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: Bardet-Biedl syndrome 4
- Also called
- Bardet-Biedl syndrome type 4BBS4