lissencephaly 6

Term ID

DOID:0112236

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. (2)

References

• OMIM:616212

Ontology

Human Disease   ( DOID:0112236 )