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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:0007772 | Impaired smooth pursuit |
| HP:0002119 | Ventriculomegaly |
| HP:0011951 | Aspiration pneumonia |
| HP:0002445 | Tetraplegia |
| HP:0012758 | Neurodevelopmental delay |
| HP:0002376 | Developmental regression |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0001319 | Neonatal hypotonia |
| HP:0002650 | Scoliosis |
| HP:0000253 | Progressive microcephaly |
