Pontocerebellar hypoplasia type 5 (Q90417): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/1962551792 / rank | |||
Normal rank | |||
Revision as of 17:23, 15 August 2026
Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia with prenatal onset. It is characterised by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1962551792 |
||
| English | Pontocerebellar hypoplasia type 5 |
Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia with prenatal onset. It is characterised by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. |
