Joubert syndrome 27

Term ID

DOID:0110996

Synonyms

• JBTS27

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. https://www.ncbi.nlm.nih.gov/pubmed/24886560

References

• OMIM:617120

Ontology

Human Disease   ( DOID:0110996 )