WormBase Tree Display for DO_term: DOID:0112228
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| DOID:0112228 | Name | lissencephaly 9 with complex brainstem malformation | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | LIS9 | |||
| posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | |||||
| Parent | Is_a | DOID:0050453 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 618325 | |
| Attribute_of | Gene_by_orthology | WBGene00006876 |
