Joubert syndrome 6

Term ID

DOID:0111001

Synonyms

• JBTS6

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/17160906

References

• MESH:C537689
• OMIM:610688

Ontology

Human Disease   ( DOID:0111001 )