Pontocerebellar hypoplasia type 5 (Q90417): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Hipoplasia pontocerebelar tipo 5 é uma forma grave muito rara de hipoplasia pontocerebelar com início pré-natal. É caracterizada pelo início fetal de clônus ou atividade semelhante a convulsões que persiste na infância e microencefalia levando à morte pós-natal precoce. Há uma sobreposição significativa tanto no fenótipo quanto no genótipo entre os tipos 4 e 5 de hipoplasia pontocerebelar. | |||
| description / en | description / en | ||
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. | |||
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. |
