Joubert syndrome 18
MONDO:0013896Mondo
Findings
No curated finding names Joubert syndrome 18 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 TCTN3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013896), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Second trimester onset
HPO, annotations 2026-09-02
Features
22 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.
- Postaxial polydactylyHPOHP:0100259
- 7 of 8 reported patients
- Intrahepatic biliary atresiaHPOHP:0005248
- 6 of 8 reported patients
- Occipital encephaloceleHPOHP:0002085
- 6 of 8 reported patients
- Renal cystHPOHP:0000107
- 6 of 8 reported patients
- Trident pelvisHPOHP:0034044
- 3 of 5 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 4 of 8 reported patients
- Intrauterine growth retardationHPOHP:0001511
Show the remaining 10
- ArrhinencephalyHPOHP:0002139
- 1 of 8 reported patients
- CamptodactylyHPOHP:0012385
- 1 of 8 reported patients
- Cleft palateHPOHP:0000175
- 1 of 8 reported patients
- Horseshoe kidneyHPOHP:0000085
- 1 of 8 reported patients
- KyphoscoliosisHPOHP:0002751
- 1 of 8 reported patients
- Lobulated tongueHPOHP:0000180
- 1 of 8 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.
- TCTN3HGNC:24519
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 18
- Also called
- JBTS18Joubert syndrome caused by mutation in TCTN3Joubert syndrome type 18TCTN3 Joubert syndrome