Bardet-Biedl syndrome 17
Findings
No curated finding names Bardet-Biedl syndrome 17 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 LZTFL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014445), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- Cognitive impairmentHPOHP:0100543
- 1 of 1 reported patient
- DextrocardiaHPOHP:0001651
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypogonadismHPOHP:0000135
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Mesoaxial hand polydactylyHPOHP:0006159
- 2 of 2 reported patients
- MicropenisHPOHP:0000054
Show the remaining 16
- Retinal degenerationHPOHP:0000546
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Situs inversus totalisHPOHP:0001696
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
- PolydipsiaHPOHP:0001959
- 3 of 4 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 4 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.
- LZTFL1HGNC:6741
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: Bardet-Biedl syndrome 17
- Also called
- Bardet-Biedl syndrome caused by mutation in LZTFL1Bardet-Biedl syndrome type 17BBS17LZTFL1 Bardet-Biedl syndrome