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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

Synonyms

cerebellooculorenal syndrome 2 [EXACT]

CORS2 [EXACT]

JBTS2 [EXACT]

Parent Relationships

is_a Joubert syndrome

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