Term Name: | lissencephaly 6 |
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Synonyms: | LIS6 |
Definition: | A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. |
Ontology: | Human Disease [DOID:0112236] ( DOID:0112236 ) |