Lissencephaly with cerebellar hypoplasia type E
A rare genetic lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition near the boundary between the frontal and parietal cortex from frontal agyria to posterior gyral simplification associated with cerebellar hypoplasia which predominantly affects the midline vermis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Lissencephaly with cerebellar hypoplasia type E?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.