Term Name:	Joubert syndrome 38
Synonyms:	JBTS38
Definition:	A Joubert syndrome that is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI and that has_material_basis_in compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13.1.
Ontology:	Human Disease [DOID:0061341]   ( DOID:0061341 )