| Metadata | |
|---|---|
| ID | DOID:0110986 |
| Name | Joubert syndrome 17 |
| Definition | A 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. https://www.ncbi.nlm.nih.gov/pubmed/26092869 |
| Xrefs | |
| Synonyms |
JBTS17 [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |