PedAM
Pediatric Disease Annotations & Medicines
| Disease | microcephaly |
| Phenotype | C0266463|lissencephaly |
| Sentences | 5 |
| PubMedID- 26052266 | lissencephaly can be associated with congenital microcephaly, though the head circumference of lissencephaly caused by the lis1 or dcx mutations is usually within the normal range. |
| 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- 23704059 | The malformation was designated microcephaly with lissencephaly or “microlissencephaly” alkuraya et al., 2011. on our review, the published images suggest a dysplastic cortex and proportionate cerebellum. |
| PubMedID- 23294285 | Human mutations in the nde1 gene result in microcephaly with lissencephaly (referred to as ‘microlissencephaly’) (feng & walsh 2004; alkuraya et al. |
| PubMedID- 21529751 | Human mutations in nde1 cause extreme microcephaly with lissencephaly [corrected]. |
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