eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hydrocephalus |
| Comorbidity | C0266463|lissencephaly |
| Sentences | 2 |
| PubMedID- 22554691 | The second pregnancy was terminated at week 20 for ultrasound abnormalities (corpus callosum agenesis and lateral and third ventricular dilatation) similar to those observed in foetus 1. autopsy of foetus 2 revealed type ii lissencephaly with secondary hydrocephaly, fronto-temporal neuroglial ectopia, fusion of the cortical frontal lobes, and thinner ectopic layer than cortical layer, again suggesting a pomgnt1 mutation. |
| PubMedID- 22522421 | 2a and 2b) showed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem. |
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