Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2036

Primary information
ID	2036
Disorder	Batten Disease NCL 3(Arginine transporter)
Inheritance	Autosomal recessive
Organ Affected	Eye, Brain, epilepsy
Onset	Early
Genotype-Phenotype Correlation	the most common being a 1.02 kb homozygous deletion,Death occurs during the late third/early fourth decade in patients carrying the most common homozygous deletion in the CLN3 gene, whereas longer survival is expected for compound heterozygous patients,Cardiac involvement due to storage accumulation, may lead to fatal arrhythmia
Refrences	23200925