Joubert syndrome 33

Term ID

DOID:0080279

Synonyms

Definition

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. https://pubmed.ncbi.nlm.nih.gov/26167768/

References

• OMIM:617767

Ontology

Human Disease   ( DOID:0080279 )