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lissencephaly type 3
Pathology:
- agyria or pachygyria or laminar heterotopia
- abnormalities of corpus callosum, hippocampus, cerebellar vermis & brainstem
Genetics:
- associated with defects in TUBA1A
Clinical manifestations:
- severe mental retardation
- motor delay
- variable presence of seizures
General
lissencephaly; agyria
References
OMIM :accession 257320