Term Name: | lissencephaly 1 |
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Synonyms: | LIS1, PAFAH1B1-related lissencephaly |
Definition: | A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. |
Ontology: | Human Disease [DOID:0112237] ( DOID:0112237 ) |