Phenotypes associated with the disease schizencephaly (OMIM:269160, an entry in Online Mendelian Inheritance in Man):
- Cerebral cortical atrophy (HP:0002120, a Human Phenotype Ontology term): Atrophy of the cortex of the cerebrum. Evidence: PCS. (PMID:26576802)
- Agenesis of corpus callosum (HP:0001274, a Human Phenotype Ontology term): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: PCS. (PMID:26576802)
- Schizencephaly (HP:0010636, a Human Phenotype Ontology term): The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. Evidence: IEA. (OMIM:269160)