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Metadata
ID DOID:0110985
Name Joubert syndrome 16
Definition A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
https://www.ncbi.nlm.nih.gov/pubmed/22282472
Xrefs

OMIM:614465

Synonyms

JBTS16 [EXACT]

Parent Relationships

is_a Joubert syndrome

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