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Metadata
ID	DOID:0110988
Name	Joubert syndrome 2
Definition	A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. https://www.ncbi.nlm.nih.gov/pubmed/20036350, https://www.ncbi.nlm.nih.gov/pubmed/9373798
Xrefs	GARD:10167 MESH:C536294 OMIM:608091
Subsets	DO_rare_slim
Synonyms	cerebellooculorenal syndrome 2 [EXACT] CORS2 [EXACT] JBTS2 [EXACT]
Parent Relationships	is_a Joubert syndrome