(Q1101694)
English
Joubert syndrome
Joubert syndrome (JS) is characterized 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
- JBTS
- cerebellooculorenal syndrome
- Joubert syndrome type A
- CPD IV
- Pure Joubert syndrome
- Classic Joubert syndrome
- Joubert-Boltshauser syndrome
- Cerebelloparenchymal disorder IV
Statements
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17 May 2019
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C74996
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Identifiers
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Sitelinks
Wikipedia(14 entries)
- arwiki متلازمة جيوبرت
- cawiki Síndrome de Joubert
- dewiki Joubert-Syndrom
- enwiki Joubert syndrome
- eswiki Síndrome de Joubert
- fiwiki Joubertin oireyhtymä
- frwiki Syndrome de Joubert
- huwiki Joubert-szindróma
- itwiki Sindrome di Joubert
- jawiki ジュベール症候群
- plwiki Zespół Joubert
- simplewiki Joubert syndrome
- trwiki Joubert sendromu
- zhwiki 茹贝尔综合征