SYT1 function has not been fully characterized.

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome is associated with mutations in the SYT1 gene on chromosome 12.

Genetic testing for SYT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 7 very common features, 12 common features.

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

No clinical trials have been registered for infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome.

122 publications have been identified in PubMed for infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome. Research spans Case Report / Case Series (30%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (18%).

Recent Publications

• Facchini A (2026). [PMID: 41499647](https://pubmed.ncbi.nlm.nih.gov/41499647/). *Clin Genet*. [Epidemiology / Natural History]

• Alwalid O (2026). [PMID: 41839614](https://pubmed.ncbi.nlm.nih.gov/41839614/). *AJNR Am J Neuroradiol*. [Case Report / Case Series]

• Zhang Q (2026). [PMID: 41910094](https://pubmed.ncbi.nlm.nih.gov/41910094/). *Hum Vaccin Immunother*. [Epidemiology / Natural History]

• Datta S (2026). [PMID: 42119404](https://pubmed.ncbi.nlm.nih.gov/42119404/). *Pediatr Neurol*. [Review / Meta-Analysis]

• Wang D (2026). [PMID: 41916887](https://pubmed.ncbi.nlm.nih.gov/41916887/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]

• Bruschi F (2026). [PMID: 41144879](https://pubmed.ncbi.nlm.nih.gov/41144879/). *Mov Disord*. [Basic Science / Preclinical]

• Caimmi S (2026). [PMID: 41933421](https://pubmed.ncbi.nlm.nih.gov/41933421/). *Ital J Pediatr*. [Review / Meta-Analysis]

• Butler MG (2026). [PMID: 41683698](https://pubmed.ncbi.nlm.nih.gov/41683698/). *Int J Mol Sci*. [Review / Meta-Analysis]

• Enyama D (2026). [PMID: 41837584](https://pubmed.ncbi.nlm.nih.gov/41837584/). *J Paediatr Child Health*. [Review / Meta-Analysis]

• Morison LD (2026). [PMID: 40379967](https://pubmed.ncbi.nlm.nih.gov/40379967/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]