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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:0007270 | Atypical absence seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0011201 | EEG with changes in voltage |
| HP:0002421 | Poor head control |
| HP:0012520 | Dilation of Virchow-Robin spaces |
| HP:0002187 | Intellectual disability, profound |
| HP:0010819 | Atonic seizure |
| HP:0001302 | Pachygyria |
| HP:0002521 | Hypsarrhythmia |
| HP:0200134 | Epileptic encephalopathy |
