Features include always present findings: Microtia, Patellar aplasia, and Low-set ears; and very common findings: Thick lower lip vermilion and Micrognathia. 21 total HPO annotations.

CDT1 encodes chromatin licensing and DNA replication factor 1 (546 aa). Required for both DNA replication and mitosis. DNA replication licensing factor, required for pre-replication complex assembly. Highest expression in Cells EBV-transformed lymphocytes (49.8 TPM) and Cells Cultured fibroblasts (12.8 TPM).

Meier-Gorlin syndrome 4 is caused by mutations in the CDT1 gene on chromosome 16.

The CDT1 protein participates in CDT1 gene expression is stimulated by E2F1, CDT1-mediated loading of MCM2-7 to replication origins, and CDT1-mediated formation of MCM2-7 double hexamer at the replication origin pathways.

CDT1 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for CDT1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 very common features, 9 common features.

No clinical trials have been registered for Meier-Gorlin syndrome 4.

7 publications have been identified in PubMed for Meier-Gorlin syndrome 4. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (29%), and Case Report / Case Series (29%).

Recent Publications

• Sezer A (2026). [PMID: 41612845](https://pubmed.ncbi.nlm.nih.gov/41612845/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

• Yang R (2026). [PMID: 41448435](https://pubmed.ncbi.nlm.nih.gov/41448435/). *J Biol Chem*. [Basic Science / Preclinical]

• Liu Y (2026). [PMID: 41719335](https://pubmed.ncbi.nlm.nih.gov/41719335/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

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

• Çetinkaya D (2024). [PMID: 38934085](https://pubmed.ncbi.nlm.nih.gov/38934085/). *Clin Dysmorphol*. [Review / Meta-Analysis]