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1. Congenital Adrenal Hyperplasia
2. Primary Carnitine Deficiency complicated with low N-acetylglutamate Synthetase Activity
3. Miyoshi Myopathy
4. Charcot-Marie-Tooth Disease
5. Thalassemia Major
6. Multiple Pterygium Syndrome
7. Aromatic L-Amino Acid Decarboxylase Deficiency
8. Ornithine Transcarbamylase Deficiency
9. Angelman Syndrome
10. Facioscapulohumeral Muscular Dystrophy
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About us | About rare diseases | What we do | Publication | Research | Links | How to help us | Library | Newsletter | News and events | Photo gallery | Forum | Contact us |