Bardet-Biedl syndrome 22
MONDO:0014926Mondo
Findings
No curated finding names Bardet-Biedl syndrome 22 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 IFT74 gene.
Definition from the Mondo Disease Ontology (MONDO:0014926), 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.
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient · Infantile onset
- HypogonadismHPOHP:0000135
- 1 of 1 reported patient
- Large for gestational ageHPOHP:0001520
- 1 of 1 reported patient · Congenital onset
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient · Infantile onset
- Macular hypopigmentationHPOHP:0007988
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Obesity
Show the remaining 1
- Intellectual disabilityHPOHP:0001249
- 1 of 2 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.
- IFT74HGNC:21424
- Definitive · G2P · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Bardet-Biedl syndrome 22
- Also called
- Bardet-Biedl syndrome caused by mutation in IFT74IFT74 Bardet-Biedl syndrome