Joubert syndrome 13
MONDO:0013608Mondo
Findings
No curated finding names Joubert syndrome 13 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 TCTN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013608), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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
- 2 of 2 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 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.
- TCTN1HGNC:26113
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 13
- Also called
- JBTS13Joubert syndrome caused by mutation in TCTN1Joubert syndrome type 13TCTN1 Joubert syndrome