eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cerebellar hypoplasia |
| Comorbidity | C0025958|microcephaly |
| Sentences | 6 |
| 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- 25886057 | Background: heterozygous loss-of-function mutations in the x-linked cask gene cause progressive microcephaly with pontine and cerebellar hypoplasia (micpch) and severe intellectual disability (id) in females. |
| PubMedID- 23165780 | Heterozygous loss of function mutations of cask at xp11.4 in females cause severe intellectual disability (id) and microcephaly with pontine and cerebellar hypoplasia (micpch). |
| PubMedID- 21046408 | Lchc includes microcephaly, agyria–pachygyria with severe cerebellar hypoplasia, cleft lip and palate, and a high mortality rate during the perinatal period. |
| PubMedID- 24278995 | The two main types of clinical presentation are: microcephaly with pontine and cerebellar hypoplasia (micpch), generally associated with loss-of-function cask mutations; and x-linked intellectual disability (xlid) with or without nystagmus, generally associated with hypomorphic cask mutations. |
| PubMedID- 25765806 | She has a phenotype of microcephaly with pontine and cerebellar hypoplasia (micpch), and has had intractable ess in clusters since 3 years 8 months of age with multifocal, particularly bifrontal, epileptic discharges in electroencephalogram. |
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