Lissencephaly with cerebellar hypoplasia type E

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

100015

OMIM code

ICD10 code

Q04.3

ICD11 code

*Soruce