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lissencephaly type 1 (classic lissencephaly)
Pathology:
- microcephaly & a thickened poorly organized cortex with 4 rather than 6 layers
- enlarged & dysmorphic ventricles & often hypoplasia of the corpus callosum
Genetics:
- associated with defects in PAFAH1B1
General
lissencephaly; agyria
Database Correlations
OMIM 607432
References
OMIM :accession 607432