PedAM
Pediatric Disease Annotations & Medicines
| Disease | cerebellar hypoplasia |
| Phenotype | C0025958|microcephaly |
| Sentences | 7 |
| 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- 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- 22002884 | Here we report on a consanguineous family in which microcephaly with cerebellar hypoplasia was seen together with cardiac conduction on defects in four affected children who also had specific facial features, fusiform fingers and overlapping toes, findings not observed in the healthy siblings. |
| 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. |
| 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- 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. |
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