Features include always present findings: Short stature, Narrow mouth, Microtia, and Delayed skeletal maturation and others; and common findings: Microcephaly and Patellar aplasia. 26 total HPO annotations.

ORC4 encodes origin recognition complex subunit 4 (436 aa). Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. Highest expression in Brain Cerebellar Hemisphere (21.4 TPM) and Brain Cerebellum (18.3 TPM).

Meier-Gorlin syndrome 2 has been associated with mutations in the ORC4 gene on chromosome 2.

ORC4 is classified as a druggable target with score 0.0.

Genetic testing for ORC4 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for Meier-Gorlin syndrome 2 has been reported in the published literature.

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

No clinical trials have been registered for Meier-Gorlin syndrome 2.

6 publications have been identified in PubMed for Meier-Gorlin syndrome 2. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

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

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

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

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