lissencephaly 6

info · Genetic

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.

Signs and symptoms

Seizure
Motor delay
Ventriculomegaly
Hyperreflexia
Microcephaly
Global developmental delay
Partial agenesis of the corpus callosum
Simplified gyral pattern
Cerebellar atrophy
Enlarged cisterna magna

Also known as: LIS6