| Metadata | |
|---|---|
| ID | DOID:0112236 |
| Name | lissencephaly 6 |
| 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. https://pubmed.ncbi.nlm.nih.gov/25521378/, https://pubmed.ncbi.nlm.nih.gov/25521379/ |
| Xrefs | |
| Synonyms |
LIS6 [EXACT] |
| Parent Relationships |
is_a microlissencephaly |