Pontocerebellar hypoplasia type 2 (Q90404): Difference between revisions
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Hipoplasia pontocerebelar tipo 2 é o subtipo mais comum de hipoplasia pontocerebelar caracterizada por início neonatal e ausência de desenvolvimento motor voluntário e posterior microencefalia progressiva, clônus generalizado, desenvolvimento de coreia e espasticidade. A maioria dos pacientes não atingirá a puberdade. | |||
| description / en | description / en | ||
Pontocerebellar hypoplasia type 2 is the most common subtype of pontocerebellar hypoplasia characterised by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalised clonus, development of chorea and spasticity. The majority of patients will not reach puberty. | |||
Revision as of 17:22, 15 August 2026
Pontocerebellar hypoplasia type 2 is the most common subtype of pontocerebellar hypoplasia characterised by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalised clonus, development of chorea and spasticity. The majority of patients will not reach puberty.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1158649247 |
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| English | Pontocerebellar hypoplasia type 2 |
Pontocerebellar hypoplasia type 2 is the most common subtype of pontocerebellar hypoplasia characterised by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalised clonus, development of chorea and spasticity. The majority of patients will not reach puberty. |
