Joubert syndrome 17 (Q32145669)
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Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has material basis in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13
- JBTS17
- JOUBERT SYNDROME 17; JBTS17
- JOUBERT SYNDROME 17
- Joubert Syndrome type 17
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Joubert syndrome 17 |
Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has material basis in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13 |
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