Lissencephaly with cerebellar hypoplasia type E

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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: // Data version September 2023.

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Lissencephaly with cerebellar hypoplasia type E?

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