| Metadata | |
|---|---|
| ID | DOID:0110985 |
| Name | Joubert syndrome 16 |
| Definition | A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. https://www.ncbi.nlm.nih.gov/pubmed/22282472 |
| Xrefs | |
| Synonyms |
JBTS16 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |