Features include always present findings: Floppy infant, Microtia, Hypertelorism, and Posteriorly rotated ears and others; and very common findings: Epicanthus, Gastroesophageal reflux, Motor delay, and Laryngomalacia and others. 29 total HPO annotations.

SIAH1 function has not been fully characterized.

Buratti-Harel syndrome is associated with mutations in the SIAH1 gene on chromosome 16.

Genetic testing for SIAH1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 5 very common features, 8 common features.

No clinical trials have been registered for Buratti-Harel syndrome.

3 publications have been identified in PubMed for Buratti-Harel syndrome. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Zheng H (2025). [PMID: 41574050](https://pubmed.ncbi.nlm.nih.gov/41574050/). *Front Neurosci*. [Basic Science / Preclinical]

• Nakousi C N (2025). [PMID: 41189745](https://pubmed.ncbi.nlm.nih.gov/41189745/). *Case Rep Genet*. [Case Report / Case Series]

• Zhao Y (2024). [PMID: 38931449](https://pubmed.ncbi.nlm.nih.gov/38931449/). *Pharmaceuticals (Basel)*. [Review / Meta-Analysis]