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.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Neuronal Ceroid-Lipofuscinosis (MFSD8-Related)||MFSD8||3, 5-13  (*7)||AR||Worldwide||< 1 in 500||55%||0.000900900900900901|