Joubert syndrome 37

Term ID

DOID:0061340

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. https://pubmed.ncbi.nlm.nih.gov/32453716/

References

• MIM:619185
• ORDO:475

Ontology

Human Disease   ( DOID:0061340 )