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GENATLAS PHENOTYPE
last update : 21-04-2011
Symbol CLN7
Location 4q28.1-q28.2
Name ceroid-lipofuscinosis, neuronal, 7
Other name(s) late-infantile onset neuronal ceroid lipofuscinosis 3
Corresponding gene MFSD8
related resource Neuronal Ceroid Lipofuscinoses NCL Mutations
Other symbol(s) LINCL3
Main clinical features
  • age at onset from 2 to 7 years, epileptic seizures, psychomotor deterioration, myoclonus, loss of vision, and premature death
  • initial symptom is most commonly epileptic seizures, but motor, visual, and speech impairment, as well as developmental regression with ataxia, may also be presenting symptoms
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)