neuronal ceroid lipofuscinosis 7

Pathology

• neurodegenerative disorder
• lipofuscinosis in patterns of mixed combinations of granular, curvilinear, fingerprint, & rectilinear profiles

Genetics

• autosomal recessive
• associated with defects in MFSD8 gene

Clinical manifestations

• progressive dementia
• seizures
• progressive visual failure

More general terms

• neuronal ceroid lipofuscinosis

Database

• OMIM: https://mirror.omim.org/entry/600143
• OMIM: https://mirror.omim.org/entry/610003