Late infantile neuronal ceroid lipofuscinosis
Late infantile neuronal ceroid lipofuscinosis
Definition
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.
Also known as Jansky-Bielschowsky disease, late infantile NCL, late-infantile neuronal ceroid lipofuscinosis, LINCL — per MONDO