OBO ID: DOID:0110983
Term Name: Joubert syndrome 14 Search Ontology:
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
is a type of:
OTHER Joubert syndrome 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM237 Joubert syndrome 14 614424
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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