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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q71U36 | Tubulin alpha-1A chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0000486 | Strabismus |
| HP:0002251 | Aganglionic megacolon |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001251 | Ataxia |
| HP:0003577 | Congenital onset |
| HP:0010818 | Generalized tonic seizure |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002282 | Gray matter heterotopia |
| HP:0001290 | Generalized hypotonia |
