Lissencephaly 9 With Complex Brainstem Malformation
Disease ID: disease_node_19274
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| Dbxref | MIM:618325, ORDO:572013 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050453 |
| Data Source | DOID |
| Synonyms | LIS9, posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome |
| Doid Label | lissencephaly 9 with complex brainstem malformation |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19274 |
| Doid Id | DOID_0112228 |
| Label | Lissencephaly 9 With Complex Brainstem Malformation |
- Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)