Joubert syndrome 34

Term ID

DOID:0061336

Synonyms

• JBTS34

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/26092869/

References

• MIM:614175
• ORDO:564

Ontology

Human Disease   ( DOID:0061336 )