The search resulted in 83 diseases.
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| Orphanet:104 | Leber hereditary optic neuropathy | ||
| Orphanet:111 | Barth syndrome | ||
| Orphanet:118 | Beta-mannosidosis | ||
| Orphanet:119 | Autosomal recessive limb-girdle muscular dystrophy type 2E | ||
| Orphanet:1340 | Cardiofaciocutaneous syndrome | ||
| Orphanet:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | ||
| Orphanet:1493 | Vici syndrome | ||
| Orphanet:158 | Carnitine uptake deficiency | ||
| Orphanet:1606 | 1p36 deletion syndrome | ||
| Orphanet:183 | Eosinophilic granulomatosis with polyangiitis | ||
| Orphanet:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | ||
| Orphanet:206554 | Autosomal recessive limb-girdle muscular dystrophy type 2M | ||
| Orphanet:206583 | Adult polyglucosan body disease | ||
| Orphanet:217085 | Mucopolysaccharidosis type 2, severe form | ||
| Orphanet:217093 | Mucopolysaccharidosis type 2, attenuated form | ||
| Orphanet:219 | Autosomal recessive limb-girdle muscular dystrophy type 2F | ||
| Orphanet:228429 | Generalized congenital lipodystrophy with myopathy | ||
| Orphanet:2515 | Microcephaly-cardiomyopathy syndrome | ||
| Orphanet:261 | Emery-Dreifuss muscular dystrophy | ||
| Orphanet:262 | Duchenne and Becker muscular dystrophy | ||
| Orphanet:263494 | DPM3-CDG | ||
| Orphanet:264 | Autosomal dominant limb-girdle muscular dystrophy type 1B | ||
| Orphanet:26791 | Multiple acyl-CoA dehydrogenase deficiency | ||
| Orphanet:26793 | Very long chain acyl-CoA dehydrogenase deficiency | ||
| Orphanet:273 | Steinert myotonic dystrophy | ||
| Orphanet:289377 | Early-onset myopathy with fatal cardiomyopathy | ||
| Orphanet:289527 | Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency | ||
| Orphanet:3071 | Costello syndrome | ||
| Orphanet:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | ||
| Orphanet:308621 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |