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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:0002384 | Focal impaired awareness seizure |
| HP:0010864 | Intellectual disability, severe |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0001256 | Intellectual disability, mild |
| HP:0008936 | Axial hypotonia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0011968 | Feeding difficulties |
| HP:0002463 | Language impairment |
| HP:0001339 | Lissencephaly |
