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Neuronal Ceroid Lipofuscinosis Type 1

Prevalence: 1/100000

lysosomal

Official·OMIM:256730 Official·ORPHA228329

Lysosomal storage disease due to PPT1 gene mutations.

Associated Genes

PPT1Palmitoyl-Protein Thioesterase 1

Chromosome 1Autosomal Recessive