Walker-Warburg Syndrome is a severe disease of the brain, muscle and eyes. It is characterized by muscle weakness, feeding difficulties, seizures, blindness, brain malformations and developmental delay with mental retardation. The average life expectancy for patients is less than 3 years.
The carrier frequency for the predominant form of Walker-Warburg in the Ashkenazi population is about 1 in 120. Testing for one Ashkenazi founder mutation detects about 95% of carriers.