Term Name:	Joubert syndrome 17
Synonyms:	JBTS17
Definition:	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.
Ontology:	Human Disease [DOID:0110986]   ( DOID:0110986 )