Features include always present findings: Long philtrum, Motor delay, Smooth philtrum, and Thin upper lip vermilion and others; and common findings: Sloping forehead, Short stature, Postnatal growth retardation, and Low hanging columella and others. 35 total HPO annotations.

CEP295 encodes centrosomal protein 295 (2,601 aa). Centriole-enriched microtubule-binding protein involved in centriole biogenesis. Highest expression in Cells EBV-transformed lymphocytes (11.3 TPM) and Testis (8.2 TPM).

Seckel syndrome 11 is associated with mutations in the CEP295 gene on chromosome 11.

CEP295 is classified as a druggable target with score 0.0.

Genetic testing for CEP295 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 13 always present features, 11 common features.

No clinical trials have been registered for Seckel syndrome 11.

4 publications have been identified in PubMed for Seckel syndrome 11. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

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

• Hudson JJR (2025). [PMID: 40903580](https://pubmed.ncbi.nlm.nih.gov/40903580/). *Nature*. [Basic Science / Preclinical]

• Marx C (2025). [PMID: 40105243](https://pubmed.ncbi.nlm.nih.gov/40105243/). *Nucleic Acids Res*. [Basic Science / Preclinical]

• Jurca AD (2024). [PMID: 39597091](https://pubmed.ncbi.nlm.nih.gov/39597091/). *Medicina (Kaunas)*. [Case Report / Case Series]