Pontocerebellar hypoplasia type 5 (Q90417): Difference between revisions
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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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1962551792 / rank | |||||||||||||||
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CID11:ID_1962551792 | |||||||||||||||
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dki-india-ID_1962551792 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest 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 |
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| default for all languages | ID_1962551792 |
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| 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. |
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CID11:ID_1962551792
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dki-india-ID_1962551792
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Concluído
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13 August 2026
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