| Metadata | |
|---|---|
| ID | DOID:0080277 |
| Name | Joubert syndrome 31 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/27208211/ |
| Xrefs | |
| Parent Relationships |
is_a Joubert syndrome |