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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:0003623 | Neonatal onset |
| HP:0010864 | Intellectual disability, severe |
| HP:0001270 | Motor delay |
| HP:0001250 | Seizure |
| HP:0002510 | Spastic tetraplegia |
