corpus callosum agenesis-macrocephaly-hypertelorism syndrome
MONDO:0018725Mondo
Findings
No curated finding names corpus callosum agenesis-macrocephaly-hypertelorism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
10 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)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Chiari type I malformationHPOHP:0007099
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- PlagiocephalyHPOHP:0001357
- Frequent (30% to 79% of cases)
- Borderline intellectual disabilityHPOHP:0006889
- Occasional (5% to 29% of cases)
- Facial asymmetryHPOHP:0000324
- Occasional (5% to 29% of cases)
- Generalized-onset seizureHPOHP:0002197
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- Also called
- 7q36.3 microduplication syndromedup(7)(q36.3)