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corpus callosum, agenesis of - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corpus callosum, agenesis of

MONDO:0009022

Also known as:agenesis of corpus callosumcorpus callosum agenesisACC

Overview

A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Agenesis of corpus callosum; and sometimes findings: Short attention span, Delayed speech and language development, Low muscle tone (hypotonia), and Specific learning disability and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Intellectual disability, Delayed speech and language development, Specific learning disability

Diagnosis

Biomarker and diagnostic research for corpus callosum, agenesis of has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for corpus callosum, agenesis of.

178 publications have been identified in PubMed for corpus callosum, agenesis of. Kisho has analyzed 142 by research type. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	54	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:217990

Orphanet

European rare disease database

Orphanet:200

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

corpus callosum, agenesis of

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

corpus callosum, agenesis of

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications