Joubert syndrome 23 (DOID:0110992)
Alliance: disease page
Synonyms: JBTS23
Alt IDs: OMIM:616490
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.