Pontocerebellar hypoplasia type 5 (Q90417): Difference between revisions
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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 |
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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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