| Term Name: | lissencephaly 6 |
|---|---|
| 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 ) |