| Metadata | |
|---|---|
| ID | DOID:0112228 |
| Name | lissencephaly 9 with complex brainstem malformation |
| Definition | A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. https://pubmed.ncbi.nlm.nih.gov/24507697/, https://pubmed.ncbi.nlm.nih.gov/30471716/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LIS9 [EXACT] posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a lissencephaly |