Term Name: Joubert syndrome 16
Synonyms: JBTS16
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.
Ontology: Human Disease [DOID:0110985]   ( DOID:0110985 )

Relationships
is a type of: Joubert syndrome