OBO ID: DOID:0110983 |
Term Name: | Joubert syndrome 14 | Search Ontology: | |
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Definition: | A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (2) | ||
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Ontology: | Human Disease ( DOID:0110983 ) |
OTHER Joubert syndrome 14 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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