Term ID: | 15674 |
Name: | late infantile neuronal ceroid lipofuscinosis |
Definition: | Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. |
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Synonyms: | amaurotic idiocy early juvenile type; amaurotic idiocy late infantile type; amaurotic idiocy, early juvenile type; amaurotic idiocy, late infantile type; Bielschowsky-jansky disease; Bielschowsky-jansky type neuronal ceroid lipofuscinosis; dollinger-Bielschowsky syndrome; dollinger-Bielschowsky type |
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