Human genes for Joubert syndrome 23
Joubert syndrome 23 [DOID:0110992]
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.
Synonyms: Joubert syndrome 23, DOID:0110992, JBTS23