Human genes for Joubert syndrome 17
Joubert syndrome 17 [DOID:0110986]
A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13.
Synonyms: Joubert syndrome 17, DOID:0110986, JBTS17