Joubert syndrome 16 (Q32145653)
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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
- JBTS16
- Joubert Syndrome type 16
- JOUBERT SYNDROME 16; JBTS16
- JOUBERT SYNDROME 16
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Joubert syndrome 16 |
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 |
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