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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q71U36 | Tubulin alpha-1A chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002119 | Ventriculomegaly |
| HP:0001263 | Global developmental delay |
| HP:0012650 | Perisylvian polymicrogyria |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0000308 | Microretrognathia |
| HP:0002198 | Dilated fourth ventricle |
| HP:0001302 | Pachygyria |
| HP:0007359 | Focal-onset seizure |
