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 )

Relationships
is a type of: autosomal recessive disease microlissencephaly