Features include very common findings: Overgrowth; and common findings: Generalized hypotonia, Prominent forehead, Hypertelorism, and Macrocephaly and others. 26 total HPO annotations.

SUZ12 function has not been fully characterized.

Imagawa-Matsumoto syndrome is associated with mutations in the SUZ12 gene on chromosome 17.

Genetic testing for SUZ12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Imagawa-Matsumoto syndrome has been reported in the published literature.

Phenotype severity distribution: 1 very common feature, 12 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Imagawa-Matsumoto syndrome.

5 publications have been identified in PubMed for Imagawa-Matsumoto syndrome. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Kim GJ (2025). [PMID: 40577202](https://pubmed.ncbi.nlm.nih.gov/40577202/). *Endocrine connections*. [Basic Science / Preclinical]

• Horsthemke B (2024). [PMID: 38854642](https://pubmed.ncbi.nlm.nih.gov/38854642/). *Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V*. [Review / Meta-Analysis]

• Simsek O (2024). [PMID: 38850627](https://pubmed.ncbi.nlm.nih.gov/38850627/). *Journal of neuroradiology = Journal de neuroradiologie*. [Diagnostic / Biomarker]

• Higashimoto K (2024). [PMID: 38228391](https://pubmed.ncbi.nlm.nih.gov/38228391/). *Journal of medical genetics*. [Basic Science / Preclinical]

• Yücel Z (2024). [PMID: 39258127](https://pubmed.ncbi.nlm.nih.gov/39258127/). *Noro psikiyatri arsivi*. [Case Report / Case Series]