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- Pompe Disease
- Pelizaeus-Merzbacher Disease (PMD)
- Myotonic Dystrophy Type 1 (DM1)
- Metachromatic Leukodystrophy (MLD)
- Leigh Syndrome
- Canavan Disease
- Glycogen Storage Diseases (GSDs)
- Hypophosphatasia
- Krabbe Disease
- Friedreich`s Ataxia
- Congenital Myasthenic Syndromes
- Barth Syndrome
- Charcot-Marie-Tooth Disease (CMT)
- Spinal Muscular Atrophy (SMA)
- Amyotrophic Lateral Sclerosis (ALS)
- Wilson`s Disease
- PGM2
- NEBL
- MYH9 : myosin heavy chain 9
- PHKA1 : phosphorylase kinase regulatory subunit alpha 1