lissencephaly 9 with complex brainstem malformation

A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromo

A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3.

Signs and symptoms

• Seizure
• Dysgenesis of the hippocampus
• Severe intellectual disability
• Pachygyria
• Hypoplastic anterior commissure
• Global developmental delay
• Lissencephaly
• Hypoplasia of the brainstem
• Hypoplasia of the pons
• Delayed ability to walk

Also known as: LIS9; posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome