Joubert syndrome (Q46017): Difference between revisions
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A síndrome de Joubert é uma síndrome de malformação genética do mesencéfalo-rombencéfalo caracterizada por malformação congênita do tronco encefálico e agenesia ou hipoplasia do vérmis cerebelar levando a um padrão respiratório anormal, nistagmo, hipotonia, ataxia e atraso em atingir marcos motores | |||
| description / en | description / en | ||
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. | |||
Revision as of 14:19, 13 August 2026
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD20.00 |
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| English | Joubert syndrome |
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. |
