|OBO ID: DOID:0110988|
|Term Name:||Joubert syndrome 2||Search Ontology:|
|Definition:||A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (2)|
|Ontology:||Human Disease (DOID:0110988)|
|is a type of:||
OTHER Joubert syndrome 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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