Features include always present findings: Sloping forehead, Short stature, Intellectual disability, and Clinodactyly of the 5th finger and others; and very common findings: Selective tooth agenesis, 11 pairs of ribs, and High palate. 30 total HPO annotations.

CEP152 encodes centrosomal protein 152 (1,710 aa). Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Highest expression in Cells EBV-transformed lymphocytes (17.6 TPM) and Testis (15.1 TPM).

Seckel syndrome 5 is associated with mutations in the CEP152 gene on chromosome 15.

CEP152 is classified as a druggable target with score 0.0.

Genetic testing for CEP152 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 3 very common features, 8 common features.

No clinical trials have been registered for Seckel syndrome 5.

6 publications have been identified in PubMed for Seckel syndrome 5. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

• Zamanian Najafabadi S (2025). [PMID: 40751525](https://pubmed.ncbi.nlm.nih.gov/40751525/). *Arch Iran Med*. [Case Report / Case Series]

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

• Zhang T (2025). [PMID: 41306914](https://pubmed.ncbi.nlm.nih.gov/41306914/). *Front Genet*. [Case Report / Case Series]

• 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]

• Alavi S (2024). [PMID: 38721552](https://pubmed.ncbi.nlm.nih.gov/38721552/). *Clin Case Rep*. [Case Report / Case Series]