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lissencephaly type 2 (Norman-Roberts type lissencephaly, lissencephaly with cerebellar hypoplasia)
Associated with type 1 lissencephaly but has distinctive associated features
Genetics:
- caused by mutations in the gene encoding reelin
Clinical manifestations:
- low sloping forehead
- prominent nasal bridge
- bitemporal hollowing
- slightly prominent occiput
- widely set eyes
- severe postnatal growth deficiency
- hypertonia
- hyperreflexia
- seizures
- profound mental retardation
General
lissencephaly; agyria
Database Correlations
OMIM 257320
References
OMIM :accession 257320