IGBP1 encodes immunoglobulin binding protein 1 (339 aa). Associated to surface IgM-receptor; may be involved in signal transduction. Highest expression in Ovary (180.9 TPM) and Cervix Endocervix (143.6 TPM).

IGBP1 is classified as a druggable target with score 0.0.

Genetic testing for IGBP1 is available. Testing is considered disputed for diagnosis.

Biomarker and diagnostic research for corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome has been reported in the published literature.

Phenotype severity distribution: 17 always present features, 14 common features.

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

No clinical trials have been registered for corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome.

201 publications have been identified in PubMed for corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome. Kisho has analyzed 126 by research type. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (17%).

Recent Publications

• Billiet T (2026). [PMID: 42112648](https://pubmed.ncbi.nlm.nih.gov/42112648/). *Geriatr Psychol Neuropsychiatr Vieil*. [Case Report / Case Series]

• Schumaier NP (2026). [PMID: 39531587](https://pubmed.ncbi.nlm.nih.gov/39531587/). *Retin Cases Brief Rep*. [Case Report / Case Series]

• Serpieri V (2026). [PMID: 41720098](https://pubmed.ncbi.nlm.nih.gov/41720098/). *Am J Hum Genet*. [Case Report / Case Series]

• Johnson VA (2026). [PMID: 42023770](https://pubmed.ncbi.nlm.nih.gov/42023770/). *JAAPA*. [Case Report / Case Series]

• Dieterich M (2026). [PMID: 41262047](https://pubmed.ncbi.nlm.nih.gov/41262047/). *Current opinion in neurology*. [Review / Meta-Analysis]

• Masnada S (2026). [PMID: 41389753](https://pubmed.ncbi.nlm.nih.gov/41389753/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Basic Science / Preclinical]

• Badachi S (2026). [PMID: 41952248](https://pubmed.ncbi.nlm.nih.gov/41952248/). *Ann Indian Acad Neurol*. [Epidemiology / Natural History]

• LeFebre NM (2026). [PMID: 41494597](https://pubmed.ncbi.nlm.nih.gov/41494597/). *Neuropsychologia*. [Basic Science / Preclinical]

• Blihar D (2026). [PMID: 41192505](https://pubmed.ncbi.nlm.nih.gov/41192505/). *World neurosurgery*. [Review / Meta-Analysis]

• Nou-Fontanet L (2026). [PMID: 41933351](https://pubmed.ncbi.nlm.nih.gov/41933351/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]