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lissencephaly 1
Summary
- Synonym
-
- LIS1
- PAFAH1B1-related lissencephaly
- Definition
- A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3.
- Super Class
- autosomal dominant disease lissencephaly
External Links
- Disease Ontology
- DOID:0112237
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002389 | Cavum septum pellucidum |
| HP:0011153 | Focal motor seizure |
| HP:0001561 | Polyhydramnios |
| HP:0006891 | Thick cerebral cortex |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0010818 | Generalized tonic seizure |
| HP:0002179 | Opisthotonus |
| HP:0012469 | Infantile spasms |
| HP:0002478 | Progressive spastic quadriplegia |
| HP:0001250 | Seizure |
