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lissencephaly 9 with complex brainstem malformation
Summary
- Synonym
-
- LIS9
- posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- 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.
- Super Class
- autosomal dominant disease lissencephaly
External Links
- Disease Ontology
- DOID:0112228
- Mondo Disease Ontology
- ORDO
- OMIM
