/late infantile neuronal ceroid lipofuscinosis

late infantile neuronal ceroid lipofuscinosis

Rare Disease

MONDO:0015674

Also Known As

Jansky-Bielschowsky diseaseLINCLlate infantile NCLlate-infantile neuronal ceroid lipofuscinosisBielschowsky-jansky diseaseBielschowsky-jansky type neuronal ceroid lipofuscinosisamaurotic idiocy early juvenile typeamaurotic idiocy late infantile typeamaurotic idiocy, early juvenile typeamaurotic idiocy, late infantile typedollinger-Bielschowsky syndromedollinger-Bielschowsky type 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.