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Metadata
ID	DOID:0061341
PURL	http://purl.obolibrary.org/obo/DOID_0061341 Copy Copied!
Name	Joubert syndrome 38
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. https://pubmed.ncbi.nlm.nih.gov/28220259/
Xrefs	MIM:619476 ORDO:475
SKOS	narrowMatch ORDO:475
Synonyms	JBTS38 [EXACT]
Parent Relationships	is_a Joubert syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance