isolated focal cortical dysplasia
Findings
No curated finding names isolated focal cortical dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.
Definition from the Mondo Disease Ontology (MONDO:0019009), read 2026-09-29. CC BY 4.0.
Features
21 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 neuron morphologyHPOHP:0012757
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very frequent (80% to 99% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Very frequent (80% to 99% of cases)
- Psychomotor deteriorationHPOHP:0002361
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal cortical gyrationHPOHP:0002536
- Frequent (30% to 79% of cases)
Show the remaining 9
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Nocturnal seizuresHPOHP:0031951
- Frequent (30% to 79% of cases)
- Thick cerebral cortexHPOHP:0006891
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- Occasional (5% to 29% of cases)
- Epileptic spasmHPOHP:0011097
- Occasional (5% to 29% of cases)
- Generalized-onset seizureHPOHP:0002197
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: isolated focal cortical dysplasia
- Also called
- epilepsy due to FCD