Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2040

Primary information
ID	2040
Disorder	Late infantile neuronal ceroid lipofuscinosis (CLN7)
Inheritance	Autosomal recessive
Organ Affected	Seizures,myoclonus, motor impairment with ataxia, speech, mental deterioration, visual failure and characteristic behavioural and sleep disturbances, Eye, Brain
Onset	Early
Genotype-Phenotype Correlation	frequency seems to be higher among many Mediterranean populations,Intrafamilial heterogeneity can be present
Refrences	23200925