| Metadata | |
|---|---|
| ID | DOID:0050777 |
| Name | Joubert syndrome |
| Definition | A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. http://en.wikipedia.org/wiki/Joubert_syndrome, http://omim.org/entry/213300?search=joubert&highlight=joubert |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
JBTS [EXACT] |
| Parent Relationships |
is_a brain disease is_a ciliopathy |