A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
Comprehensive, easy-to-understand information about this condition
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ceroid lipofuscinosis, neuronal, 4 (Kufs type)
MONDO:0008083
ceroid lipofuscinosis, neuronal, 6B (Kufs type)
MONDO:0008768
cerebrotendinous xanthomatosis
MONDO:0008948
Gaucher disease type I
MONDO:0009265
neuronal ceroid lipofuscinosis 1
MONDO:0009744
neuronal ceroid lipofuscinosis 5
MONDO:0009745