Lissencephaly with cerebellar hypoplasia type B
ORPHA:100012· ICD-10 Q04.3
Definition
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal