pachygyria-intellectual disability-epilepsy syndrome
Findings
No curated finding names pachygyria-intellectual disability-epilepsy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.
Definition from the Mondo Disease Ontology (MONDO:0010840), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: pachygyria-intellectual disability-epilepsy syndrome
- Also called
- Kuzniecky syndrome