| Metadata | |
|---|---|
| ID | DOID:0110982 |
| Name | Joubert syndrome 13 |
| Definition | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/21725307 |
| Xrefs | |
| Synonyms |
JBTS13 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |