| Metadata | |
|---|---|
| ID | DOID:0080276 |
| Name | Joubert syndrome 29 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/26595381/ |
| Parent Relationships |
is_a Joubert syndrome |