|OBO ID: DOID:0050777|
|Term Name:||Joubert syndrome||Search Ontology:|
|Definition:||A ciliopathy that 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. (3)|
|Ontology:||Human Disease (DOID:0050777)|
|is a type of:||
OTHER Joubert syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available
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