Joubert syndrome (Q46017)
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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. |
