Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2035

Primary information
ID	2035
Disorder	Batten Disease NCL 2(CLN 2)
Inheritance	Autosomal recessive
Organ Affected	Brain, Eye, seizures
Onset	Early
Genotype-Phenotype Correlation	R208X and IVS5-1G > C,127Q, N286S, and T353P,performance curves with the N286S mutation slightly diverged from the 95th centile,R127Q mutation fell far beyond the 95th centile,discrete CVP inclusions have been identified in subtrophoblastic blood vessel endothelial cells
Refrences	12376936