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- Neuronal Ceroid Lipofuscinoses (NCLs)
- POFUT2
- POFUT1 : protein O-fucosyltransferase 1
- POF1B
- APOF
- NPC1 : NPC intracellular cholesterol transporter 1
- Batten Disease
- Comprehensive List of Genetic and Rare Diseases
- SPTLC1 : serine palmitoyltransferase long chain base subunit 1
- SNX1
- NCL
- ALS2CL
- GDF9
- SLC26A4 : solute carrier family 26 member 4
- Premature Menopause
- SLC26A1
- WNT4 : Wnt family member 4
- FTL : ferritin light chain
- GNRHR
- HPS1 : HPS1 biogenesis of lysosomal organelles complex 3 subunit 1