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Human Disease

Joubert syndrome 14

Term ID
DOID:0110983
Synonyms
  • JBTS14
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)
References
Ontology
Human Disease   ( DOID:0110983 )
Relationships
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Genes Involved
Zebrafish Models