Features include always present findings: Global developmental delay; and very common findings: Moderate intellectual disability, Low muscle tone (hypotonia), Liver scarring (fibrosis) (hepatic fibrosis), and Molar tooth sign on MRI. 41 total HPO annotations.

TMEM67 function has not been fully characterized.

COACH syndrome 1 is associated with mutations in the TMEM67 gene on chromosome 8.

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

Phenotype severity distribution: 1 always present feature, 4 very common features, 9 common features.

No clinical trials have been registered for COACH syndrome 1.

3 publications have been identified in PubMed for COACH syndrome 1. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Ahmed M (2025). [PMID: 40436881](https://pubmed.ncbi.nlm.nih.gov/40436881/). *Nat Commun*. [Basic Science / Preclinical]

• Pang J (2024). [PMID: 38844949](https://pubmed.ncbi.nlm.nih.gov/38844949/). *BMC Med Genomics*. [Case Report / Case Series]