Features include always present findings: Anteverted nares, Wide anterior fontanel, Focal impaired awareness seizure, and Ulnar bowing and others; and common findings: Prominent forehead, Atrioventricular canal defect, and Microphthalmia.

VPS35L function has not been fully characterized.

Ritscher-Schinzel syndrome 3 is associated with mutations in the VPS35L gene on chromosome 16.

Genetic testing for VPS35L is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 25 always present features, 3 common features.

No clinical trials have been registered for Ritscher-Schinzel syndrome 3.

3 publications have been identified in PubMed for Ritscher-Schinzel syndrome 3. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Singla A (2025). [PMID: 40448120](https://pubmed.ncbi.nlm.nih.gov/40448120/). *BMC medical genomics*. [Basic Science / Preclinical]

• Butkovič R (2025). [PMID: 41038817](https://pubmed.ncbi.nlm.nih.gov/41038817/). *Nature communications*. [Basic Science / Preclinical]

• Buck H (2025). [PMID: 41473320](https://pubmed.ncbi.nlm.nih.gov/41473320/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]