Features include always present findings: Epicanthus, Long philtrum, Low muscle tone (hypotonia), and Prolonged bleeding time and others; and very common findings: Irregular dentition and Sideways curvature of the spine (scoliosis). 46 total HPO annotations.

RIN2 function has not been fully characterized.

RIN2 syndrome is caused by mutations in the RIN2 gene on chromosome 20.

Genetic testing for RIN2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 25 always present features, 2 very common features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for RIN2 syndrome.

2 publications have been identified in PubMed for RIN2 syndrome. Research spans Other (100%).

Recent Publications

• Gutiérrez Romero E (2025). [PMID: 41466732](https://pubmed.ncbi.nlm.nih.gov/41466732/). *Adv Lab Med*. [Other]

• Ben Kridis W (2024). [PMID: 39386197](https://pubmed.ncbi.nlm.nih.gov/39386197/). *Front Oncol*. [Other]