NCL-G - Neuronal Ceroid Lipofuscinosis/Générique

Nervous system degeneration

Description: 
Neurodegenerative disease leading to loss of motor function and vision and to behavioural disorder
Symptomes: 
Progressive loss of motor function and coordination (ataxia), visual impairment, behavioural disorder, cognitive decline
Age d'aparition: 
Between 12 and 18 months old
Fréquence: 
Not available
Gène impliqué: 
MFSD8
Mutation testée: 
c.843delT
Transmission: 
Autosomal Recessive
Brevet: 
-