eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cerebellar hypoplasia |
| Comorbidity | C0266463|lissencephaly |
| Sentences | 14 |
| PubMedID- 26495167 | Brain magnetic resonance imaging revealed cobblestone lissencephaly with cerebellar hypoplasia and hypoplastic brain stem in a “z”-shaped configuration on the sagittal plane (fig. |
| PubMedID- 24260534 | lissencephaly with cerebellar hypoplasia (lch) is a type of lis included within the vlis group [1]. |
| PubMedID- 22522421 | 2a and 2b) showed typical features of cobblestone lissencephaly together with hydrocephalus, cerebellar hypoplasia and a kinked brainstem. |
| PubMedID- 23625088 | Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by tuba1a, reln, and very-low-density lipoprotein receptor (vldlr) genes have been reported. |
| PubMedID- 25560765 | Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in cdk5. |
| PubMedID- 22457654 | Mutation of the reln gene, coding for the extracellular glycoprotein reelin, causes a neuronal migration disorder called lissencephaly with cerebellar hypoplasia (zaki et al., 2007; guerrini and parrini, 2010). |
| PubMedID- 21421488 | lissencephaly with cerebellar hypoplasia presented with pachygyria, cerebellar hypoplasia and hippocampal dysplasia. |
| PubMedID- 25053001 | Retrospective assessment of the clinical and radiological features of this patient-i.e., microcephaly, lissencephaly (pachygyria) with cerebellar hypoplasia, and corpus callosum hypoplasia-indicated that the tuba1a mutation did not lead to any contradictions. |
| PubMedID- 23622213 | lissencephaly with cerebellar hypoplasia (lch) encompass heterogeneous disorders named lch types a to d. |
| PubMedID- 23938146 | Conclusions: the study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in churra lambs for which an autosomal recessive inheritance was the most likely cause. |
| PubMedID- 25609191 | Erratum to: autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in cdk5. |
| PubMedID- 26046367 | Homozygous reln mutations are known to cause lissencephaly with cerebellar hypoplasia. |
| PubMedID- 23864587 | lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts. |
| PubMedID- 20376468 | Human lissencephaly with cerebellar hypoplasia due to mutations in tuba1a: expansion of the foetal neuropathological phenotype. |
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