| Metadata | |
|---|---|
| ID | DOID:0111002 |
| Name | Joubert syndrome 7 |
| Definition | A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. https://www.ncbi.nlm.nih.gov/pubmed/17558409 |
| Xrefs | |
| Synonyms |
JBTS7 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |