Joubert syndrome 39

Term ID

DOID:0061342

Synonyms

• JBTS39

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24.2. https://pubmed.ncbi.nlm.nih.gov/33791682/

References

• MIM:619562
• ORDO:475

Ontology

Human Disease   ( DOID:0061342 )