OBO ID: DOID:0110992
Term Name: Joubert syndrome 23 Search Ontology:
Synonyms:
  • JBTS23
Definition: A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26096313
References:
Ontology: Human Disease   ( DOID:0110992 )
Relationships
is a type of:
OTHER Joubert syndrome 23 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIAA0586 Joubert syndrome 23 616490
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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