Features include always present findings: Severe short stature, Thick vermilion border, Microtia, and Delayed skeletal maturation and others; and common findings: Anteverted nares, Gastroesophageal reflux, Motor delay, and Failure to thrive and others. 43 total HPO annotations.

GMNN encodes geminin DNA replication inhibitor (209 aa). Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Highest expression in Cells EBV-transformed lymphocytes (41.8 TPM) and Testis (38.0 TPM).

Meier-Gorlin syndrome 6 has been associated with mutations in the GMNN gene on chromosome 6.

The GMNN protein participates in CDT1-mediated loading of MCM2-7 to replication origins, Trunk bipotent pancreatic progenitor cell produces pancreatic ductal cell, and G1/S-Specific Transcription pathways.

GMNN is classified as a druggable target (Druggable Genome category) with score 0.1.

Genetic testing for GMNN is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for Meier-Gorlin syndrome 6 has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 10 common features.

No clinical trials have been registered for Meier-Gorlin syndrome 6.

4 publications have been identified in PubMed for Meier-Gorlin syndrome 6. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Zhuang J (2026). [PMID: 41620759](https://pubmed.ncbi.nlm.nih.gov/41620759/). *Hum Genomics*. [Basic Science / Preclinical]

• Zemet R (2025). [PMID: 40423626](https://pubmed.ncbi.nlm.nih.gov/40423626/). *Prenat Diagn*. [Diagnostic / Biomarker]

• Lee J (2025). [PMID: 39659197](https://pubmed.ncbi.nlm.nih.gov/39659197/). *J Yeungnam Med Sci*. [Case Report / Case Series]

• Li Q (2024). [PMID: 39789585](https://pubmed.ncbi.nlm.nih.gov/39789585/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]