Aicardi syndrome
Findings
No curated finding names Aicardi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
Definition from the Mondo Disease Ontology (MONDO:0010568), read 2026-09-29. CC BY 4.0.
Features
51 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.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Infantile spasmsHPOHP:0012469
- Very frequent (80% to 99% of cases)
- Moderate global developmental delayHPOHP:0011343
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- PachygyriaHPOHP:0001302
- Very frequent (80% to 99% of cases)
- Partial agenesis of the corpus callosumHPOHP:0001338
- Very frequent (80% to 99% of cases)
- PolymicrogyriaHPOHP:0002126
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
- Bifid ribsHPOHP:0000892
- Frequent (30% to 79% of cases)
- Block vertebraeHPOHP:0003305
- Frequent (30% to 79% of cases)
Show the remaining 39
- Butterfly vertebraeHPOHP:0003316
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Genes
2 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
Other names
6 names
Resolves to: Aicardi syndrome
- Also called
- agenesis of corpus callosum with chorioretinal abnormalityAICAicardi syndrome, X-linked dominantAicardi’s syndromecorpus callosum agenesis of with chorioretinal abnormalitycorpus callosum, agenesis of, with chorioretinal abnormality