Joubert syndrome 2 (Q32145701)
Jump to navigation
Jump to search
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2.
- JBTS2
- cerebellooculorenal syndrome 2
- CORS2
- Joubert Syndrome type 2
- JOUBERT SYNDROME 2
- JOUBERT SYNDROME 2; JBTS2
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Joubert syndrome 2 |
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2. |
|
Statements
2 references
1 reference
Identifiers
1 reference
1 reference
1 reference
2 references
1 reference
1 reference