Search Ontology:
Human Disease

Joubert syndrome 23

Term ID
DOID:0110992
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 Pages
Genes Involved
Zebrafish Models