Features include always present findings: Thin eyebrow; and very common findings: Progressive microcephaly, Microtia, and Craniosynostosis. 50 total HPO annotations.

CDC45 encodes cell division cycle 45 (566 aa). Required for initiation of chromosomal DNA replication. Highest expression in Testis (54.9 TPM) and Cells EBV-transformed lymphocytes (38.6 TPM).

Meier-Gorlin syndrome 7 is caused by mutations in the CDC45 gene on chromosome 22.

The CDC45 protein participates in CDC45 gene expression is stimulated by E2F1, Multiple proteins are localized at replication fork, and Loading of claspin onto DNA during replication origin firing pathways.

CDC45 is classified as a druggable target with score 0.0.

Genetic testing for CDC45 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Meier-Gorlin syndrome 7 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 3 very common features, 3 common features.

No clinical trials have been registered for Meier-Gorlin syndrome 7.

5 publications have been identified in PubMed for Meier-Gorlin syndrome 7. Research spans Basic Science / Preclinical (80%) and Diagnostic / Biomarker (20%).

Recent Publications

• Zhuang J (2026). [PMID: 41620759](https://pubmed.ncbi.nlm.nih.gov/41620759/). *Human genomics*. [Diagnostic / Biomarker]

• Graziadio L (2025). [PMID: 40577589](https://pubmed.ncbi.nlm.nih.gov/40577589/). *Genetics*. [Basic Science / Preclinical]

• Denkiewicz-Kruk M (2025). [PMID: 40139510](https://pubmed.ncbi.nlm.nih.gov/40139510/). *Biochimica et biophysica acta. Molecular cell research*. [Basic Science / Preclinical]

• Schoch K (2024). [PMID: 38467731](https://pubmed.ncbi.nlm.nih.gov/38467731/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]

• Kliche J (2024). [PMID: 39009827](https://pubmed.ncbi.nlm.nih.gov/39009827/). *Molecular systems biology*. [Basic Science / Preclinical]