schizencephaly
Findings
No curated finding names schizencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.
Definition from the Mondo Disease Ontology (MONDO:0010011), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Porencephalic cystHPOHP:0002132
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HemiparesisHPOHP:0001269
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Spastic tetraplegiaHPOHP:0002510
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Cerebral cortical atrophyHPOHP:0002120
Genes
1 gene
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.
- EMX2HGNC:3341
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Disputed Evidence · G2P · Autosomal dominant · 2026
Where it sits
- Narrower terms (2)