Joubert syndrome 26
MONDO:0014771Mondo
Findings
No curated finding names Joubert syndrome 26 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 KIAA0556 gene.
Definition from the Mondo Disease Ontology (MONDO:0014771), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 3 reported patients
- Cleft lipHPOHP:0410030
- 1 of 3 reported patients
- Cleft palateHPOHP:0000175
- 1 of 3 reported patients
- Anteverted naresHPOHP:0000463
- Central hypothyroidismHPOHP:0011787
Show the remaining 4
- PanhypopituitarismHPOHP:0000871
- PtosisHPOHP:0000508
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- Short statureHPOHP:0004322
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.
- KATNIPHGNC:29068
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 26
- Also called
- JBTS26Joubert syndrome caused by mutation in KIAA0556Joubert syndrome type 26KIAA0556 Joubert syndrome