Neuronal Ceroid-Lipofuscinosis (MFSD8-Related) (MFSD8)

Neuronal ceroid-lipofuscinosis (MFSD8-related) is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene MFSD8. It has been reported in patients from different ethnicities around the world. Most MFSD8-caused neuronal ceroid-lipofuscinosis results in the late infantile form, in which symptoms begin between 1.5 and 7 years of age. Clinical features include progressive visual loss and neurologic symptoms, including seizures, ataxia, developmental and motor regression and intellectual disability. Symptoms progress rapidly. Most patients with the late-infantile form of neuronal ceroid-lipofuscinosis do not survive beyond early adulthood. It is not currently possible to predict the age of disease onset based on the patients genotype.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):