Term Name: Joubert syndrome 37
Synonyms: JBTS37
Definition: A Joubert syndrome that is characterized by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21.2.
Ontology: Human Disease [DOID:0061340]   ( DOID:0061340 )

Relationships
is a type of: autosomal recessive disease Joubert syndrome