Bardet-Biedl syndrome 19
MONDO:0014447Mondo
Findings
No curated finding names Bardet-Biedl syndrome 19 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 IFT27 gene.
Definition from the Mondo Disease Ontology (MONDO:0014447), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Cone/cone-rod dystrophyHPOHP:0000548
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- ExodeviationHPOHP:0020049
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Mesoaxial hand polydactylyHPO
Show the remaining 12
- Y-shaped metacarpalsHPOHP:0006042
- 1 of 1 reported patient
- Postaxial polydactylyHPOHP:0100259
- 19 of 23 reported patients
- HypogonadismHPOHP:0000135
- 9 of 23 reported patients
- Renal insufficiencyHPOHP:0000083
- 6 of 23 reported patients
- Hepatic steatosisHPOHP:0001397
- 5 of 20 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 23 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.
- IFT27HGNC:18626
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Bardet-Biedl syndrome 19
- Also called
- Bardet-Biedl syndrome caused by mutation in IFT27Bardet-Biedl syndrome type 19BBS19IFT27 Bardet-Biedl syndrome