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neuronal ceroid lipofuscinosis 7
Pathology:
- neurodegenerative disorder
- lipofuscinosis in patterns of mixed combinations of granular, curvilinear, fingerprint, & rectilinear profiles
Genetics:
1) autosomal recessive
2) associated with defects in MFSD8 gene
Clinical manifestations:
- progressive dementia
- seizures
- progressive visual failure
Related
lipofuscin
General
neuronal ceroid lipofuscinosis
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM correlations
References
OMIM :accession 600143, 610003