" /> Juvenile neuronal ceroid lipofuscinosis - CISMeF





Preferred Label : Juvenile neuronal ceroid lipofuscinosis;

ICD-11 definition : Juvenile neuronal ceroid lipofuscinoses are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.;

ICD-11 synonym : Lysosomal transmembrane CLN3 protein deficiency; Batten-Spielmeyer-Vogt disease; Juvenile NCL; Juvenile NCL - [neuronal ceroid lipofuscinosis]; Spielmeyer-Vogt disease; Batten disease; neuronal ceroid lipofuscinosis;

ICD-11 inclusion : Spielmeyer-Vogt type neuronal ceroid lipofuscinosis; Batten-Mayou disease; amaurotic idiocy early juvenile type; Batten-Mayou syndrome; amaurotic idiocy juvenile type;

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Juvenile neuronal ceroid lipofuscinoses are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.

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30/05/2025


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