Metadata | |
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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 |