Search Ontology:
Human Disease

Joubert syndrome 25

Term ID
DOID:0110994
Synonyms
  • JBTS25
Definition
A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/26477546
References
Ontology
Human Disease   ( DOID:0110994 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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