Features include always present findings: Cerebellar vermis hypoplasia, Global developmental delay, Low muscle tone (hypotonia), and Intellectual disability; and common findings: Hypoplasia of the brainstem, Liver scarring (fibrosis) (hepatic fibrosis), Ataxia, and Bile duct proliferation and others. 21 total HPO annotations.

TMEM67 function has not been fully characterized.

Joubert syndrome 6 is associated with mutations in the TMEM67 gene on chromosome 8.

Genetic testing for TMEM67 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Joubert syndrome 6 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 7 common features.

No clinical trials have been registered for Joubert syndrome 6.

9 publications have been identified in PubMed for Joubert syndrome 6. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (44%), and Diagnostic / Biomarker (11%).

Recent Publications

• Ren S (2026). [PMID: 41929917](https://pubmed.ncbi.nlm.nih.gov/41929917/). *Frontiers in pediatrics*. [Case Report / Case Series]

• Fischer S (2026). [PMID: 41542618](https://pubmed.ncbi.nlm.nih.gov/41542618/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

• He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *The Journal of clinical investigation*. [Basic Science / Preclinical]

• Solijon KLK (2025). [PMID: 39849212](https://pubmed.ncbi.nlm.nih.gov/39849212/). *Journal of neural transmission (Vienna, Austria : 1996)*. [Case Report / Case Series]

• Aynekin B (2025). [PMID: 41230208](https://pubmed.ncbi.nlm.nih.gov/41230208/). *Molecular syndromology*. [Basic Science / Preclinical]