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- Mitochondrial diseases, clinically undefinite
- Hypoparathyroidism nerve deafness nephrosis
- Werdnig Hoffmann disease
- Rapp Hodgkin syndrome
- Distal myopathy with vocal cord weakness
- Alopecia macular degeneration growth retardation
- Myoadenylate deaminase deficiency
- Neuroaxonal dystrophy, late infantile
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