| Metadata | |
|---|---|
| ID | DOID:0110999 |
| Name | Joubert syndrome 4 |
| Definition | A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. https://www.ncbi.nlm.nih.gov/pubmed/15138899 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
JBTS4 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |