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Metadata
ID	DOID:0110983
Name	Joubert syndrome 14
Definition	A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. https://www.ncbi.nlm.nih.gov/pubmed/17603801, https://www.ncbi.nlm.nih.gov/pubmed/22152675
Xrefs	OMIM:614424
Synonyms	JBTS14 [EXACT]
Parent Relationships	is_a Joubert syndrome