Joubert Syndrome 2
Joubert Syndrome 2 is a neurological disorder associated with a specific brain malformation. Symptoms include developmental delay and, often, mental retardation, breathing difficulties, ataxia, failure to thrive, retinal degeneration and renal dysfunction.
The carrier frequency in the Ashkenazi population is approximately 1 in 110. Testing for one common mutation provides a carrier detection rate of at least 95% in this population.