"Dandy-Walker malformation: the Dandy-Walker continuum may also occur simultaneously with the Joubert anomaly in some cases"
"The prevalence of Joubert syndrome is approximately 1 in 100,000. There are numerous associations that are variably present 5:"
"Affected individuals usually present with ataxia and have dysmorphic facies, global developmental delay, hypotonia, rapid breathing and oculomotor apraxia. There is significant range in the degree of cognitive impairment with IQ ranging from 30 to 80, although the presence of speech and motor deficits makes assessment difficult 7."
"There is limited data available on the long-term outcome of children with Joubert syndrome. Persistent neuromotor developmental delay is a feature of surviving individuals. Patients with associated retinal dysplasia appear to have a poorer prognosis 5."
"Joubert syndrome patients are a genetically heterogeneous population with some having a mutation of chromosome 9q34.3 however many do not 4. At least 10 genes relating to subcellular organelles (including the primary cilium and basal body) have been implicated; as such Joubert syndrome is one of a number of related disorders known as ciliopathies 7,8."