complex cortical dysplasia with other brain malformations 2

info · Genetic

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.

Signs and symptoms

Hypertonia
Spastic tetraplegia
Microcephaly
Short foot
Absent speech
Hypoplasia of the corpus callosum
Seizure
Secondary microcephaly
Severe intellectual disability
Motor stereotypy

Also known as: CDCBM2