| Metadata | |
|---|---|
| ID | DOID:0110989 |
| Name | Joubert syndrome 20 |
| Definition | A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/23012439 |
| Xrefs | |
| Synonyms |
JBTS20 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |