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lissencephaly 3
Summary
- Synonym
-
- LIS3
- Definition
- A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
- Super Class
- autosomal dominant disease lissencephaly
External Links
- Disease Ontology
- DOID:0112232
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000252 | Microcephaly |
| HP:0002126 | Polymicrogyria |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0000639 | Nystagmus |
| HP:0001339 | Lissencephaly |
| HP:0012469 | Infantile spasms |
| HP:0001257 | Spasticity |
