Term Name:	Joubert syndrome 23
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.
Ontology:	Human Disease [DOID:0110992]   ( DOID:0110992 )