Catalog
Joubert syndrome
Link to WHO Definition
Joubert syndrome – http://id.who.int/icd/entity/1414756318
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised 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.