Features include always present findings: Short stature, Protruding ear, Narrow face, and Microcephaly and others; and common findings: Scaphocephaly, Hypertrichosis, Enlarged brain ventricles (ventriculomegaly), and Asthma and others. 28 total HPO annotations.

TRAIP function has not been fully characterized.

Seckel syndrome 9 is associated with mutations in the TRAIP gene on chromosome 3.

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

Biomarker and diagnostic research for Seckel syndrome 9 has been reported in the published literature.

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

No clinical trials have been registered for Seckel syndrome 9.

3 publications have been identified in PubMed for Seckel syndrome 9. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Qasem AG (2025). [PMID: 41170230](https://pubmed.ncbi.nlm.nih.gov/41170230/). *Cureus*. [Case Report / Case Series]

• Cuinat S (2025). [PMID: 40114033](https://pubmed.ncbi.nlm.nih.gov/40114033/). *Eur J Hum Genet*. [Diagnostic / Biomarker]

• Tillery MML (2024). [PMID: 39024292](https://pubmed.ncbi.nlm.nih.gov/39024292/). *Mol Biol Cell*. [Basic Science / Preclinical]