corpus callosum, agenesis of
Findings
No curated finding names corpus callosum, agenesis of yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009022), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- Abnormally slow thought processHPOHP:0031843
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- DyslexiaHPOHP:0010522
- Occasional (5% to 29% of cases)
- DysorthographyHPOHP:6000915
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- Hypotonia
Show the remaining 1
- Specific learning disabilityHPOHP:0001328
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: corpus callosum, agenesis of
- Also called
- agenesis of corpus callosumcorpus callosum agenesis