Features include always present findings: Intellectual disability, Delayed speech and language development, Sideways curvature of the spine (scoliosis), and Metaphyseal irregularity and others; and very common findings: Motor delay, Thin upper lip vermilion, and Wide mouth. 34 total HPO annotations.

QRICH1 function has not been fully characterized.

Ververi-Brady syndrome 1 is associated with mutations in the QRICH1 gene on chromosome 3.

Genetic testing for QRICH1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 3 very common features, 23 common features.

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

No clinical trials have been registered for Ververi-Brady syndrome 1.

2 publications have been identified in PubMed for Ververi-Brady syndrome 1. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Gimeno AF (2025). [PMID: 39333051](https://pubmed.ncbi.nlm.nih.gov/39333051/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]

• Zhao J (2024). [PMID: 39227586](https://pubmed.ncbi.nlm.nih.gov/39227586/). *Cell death &amp; disease*. [Basic Science / Preclinical]