| Metadata | |
|---|---|
| ID | DOID:0112237 |
| Name | lissencephaly 1 |
| Definition | A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/11754098/, https://pubmed.ncbi.nlm.nih.gov/12668601/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LIS1 [EXACT] PAFAH1B1-related lissencephaly [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a lissencephaly |