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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:0001263 | Global developmental delay |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0001249 | Intellectual disability |
| HP:0002282 | Gray matter heterotopia |
| HP:0003745 | Sporadic |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0005484 | Secondary microcephaly |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001285 | Spastic tetraparesis |
