| Metadata | |
|---|---|
| ID | DOID:0112232 |
| Name | lissencephaly 3 |
| 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. https://pubmed.ncbi.nlm.nih.gov/17218254/, https://pubmed.ncbi.nlm.nih.gov/30744660/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LIS3 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a lissencephaly |