OBO ID: DOID:0112228 |
Term Name: | lissencephaly 9 with complex brainstem malformation | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0112228 ) |
OTHER lissencephaly 9 with complex brainstem malformation PAGES
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