Лісенцефалія з гіпоплазією мозочка, тип Е
ORPHA:100015· ICD-10 Q04.3· Lissencephaly with cerebellar hypoplasia type E
Визначення(English summary)
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.
- Вік початку
- Antenatal, Neonatal