Joubert syndrome
MONDO:0018772Also known as: CPD IV, Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV
- MONDO:
- MONDO:0018772
- Orphanet:
- 475 ↗
Rare disease57 associated genes
Description
Joubert syndrome (JS) 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.
Associated genes
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