The search resulted in 59 diseases.
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| Orphanet:104 | Leber hereditary optic neuropathy | ||
| Orphanet:111 | Barth syndrome | ||
| Orphanet:118 | Beta-mannosidosis | ||
| Orphanet:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | ||
| Orphanet:137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | ||
| Orphanet:158 | Carnitine uptake deficiency | ||
| Orphanet:159 | Carnitine-acylcarnitine translocase deficiency | ||
| Orphanet:206554 | Autosomal recessive limb-girdle muscular dystrophy type 2M | ||
| Orphanet:206583 | Adult polyglucosan body disease | ||
| Orphanet:2072 | Gaucher disease - ophthalmoplegia - cardiovascular calcification | ||
| Orphanet:217085 | Mucopolysaccharidosis type 2, severe form | ||
| Orphanet:217093 | Mucopolysaccharidosis type 2, attenuated form | ||
| Orphanet:263494 | DPM3-CDG | ||
| Orphanet:26791 | Multiple acyl-CoA dehydrogenase deficiency | ||
| Orphanet:26793 | Very long chain acyl-CoA dehydrogenase deficiency | ||
| Orphanet:289527 | Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency | ||
| 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 | ||
| Orphanet:308638 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | ||
| Orphanet:308655 | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | ||
| Orphanet:308670 | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | ||
| Orphanet:308684 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | ||
| Orphanet:308698 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | ||
| Orphanet:308712 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | ||
| Orphanet:309252 | Atypical Gaucher disease due to saposin C deficiency | ||
| Orphanet:309282 | Alpha-mannosidosis, infantile form | ||
| Orphanet:309288 | Alpha-mannosidosis, adult form | ||
| Orphanet:314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | ||
| Orphanet:319646 | PGM1-CDG | ||
| Orphanet:319678 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |