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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease lissencephaly
Comorbidity C0025958|microcephaly
Sentences 2
PubMedID- 22427329 In our prior classification, these phenotypes were listed as variant lissencephaly with extreme microcephaly, absent (or nearly absent) corpus callosum, moderate to severe cerebellar hypoplasia and brainstem hypoplasia; they are likely the malformation that forman et al.
PubMedID- 21529751 Human mutations in nde1 cause extreme microcephaly with lissencephaly [corrected].

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