| Metadata | |
|---|---|
| ID | DOID:0080275 |
| Name | Joubert syndrome 30 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/28625504/ |
| Xrefs | |
| Parent Relationships |
is_a Joubert syndrome |