eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Comorbidity | C0266463|lissencephaly |
| Sentences | 3 |
| PubMedID- 23712473 | Other cns anomalies detected in this group of patients included hydrocephalus, dandy walker malformation, large cysterna magna, microcephalus with lissencephaly, craniosynestosis, periventricular pseudocysts, global brain ischemia, cerebellar hypoplasia, and sub-ependymal nodule. |
| PubMedID- 21529751 | Human mutations in nde1 cause extreme microcephaly with lissencephaly [corrected]. |
| 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. |
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