Joubert syndrome 6
MONDO:0012539Mondo
Findings
No curated finding names Joubert syndrome 6 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 TMEM67 gene.
Definition from the Mondo Disease Ontology (MONDO:0012539), 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 4 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 2 reported patients
- AtaxiaHPOHP:0001251
Show the remaining 1
- Oculomotor apraxiaHPOHP:0000657
- 1 of 5 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.
- TMEM67HGNC:28396
- Strong · Ambry Genetics · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Joubert syndrome 6
- Also called
- JBTS6Joubert syndrome caused by mutation in TMEM67Joubert syndrome type 6TMEM67 Joubert syndrome