Joubert syndrome 23
MONDO:0014664Mondo
Findings
No curated finding names Joubert syndrome 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
Definition from the Mondo Disease Ontology (MONDO:0014664), 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.
- Abnormality of eye movementHPOHP:0000496
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- TachypneaHPOHP:0002789
- 5 of 8 reported patients
- ApneaHPOHP:0002104
- 4 of 8 reported patients
- ColobomaHPOHP:0000589
- 1 of 8 reported patients · Congenital onset
- PolydactylyHPOHP:0010442
- 1 of 8 reported patients · Congenital onset
- Cerebellar dysplasiaHPOHP:0007033
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.
- KIAA0586HGNC:19960
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 23
- Also called
- JBTS23Joubert syndrome caused by mutation in KIAA0586Joubert syndrome type 23KIAA0586 Joubert syndrome