The search resulted in 73 diseases.
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| Orphanet:104 | Leber hereditary optic neuropathy | ||
| Orphanet:116 | Beckwith-Wiedemann syndrome | ||
| Orphanet:118 | Beta-mannosidosis | ||
| Orphanet:1340 | Cardiofaciocutaneous syndrome | ||
| Orphanet:1349 | Maternally-inherited cardiomyopathy and hearing loss | ||
| Orphanet:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | ||
| Orphanet:137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | ||
| Orphanet:159 | Carnitine-acylcarnitine translocase deficiency | ||
| Orphanet:1926 | Diabetic embryopathy | ||
| Orphanet:217085 | Mucopolysaccharidosis type 2, severe form | ||
| Orphanet:217093 | Mucopolysaccharidosis type 2, attenuated form | ||
| Orphanet:217572 | Glycogen storage disease with hypertrophic cardiomyopathy | ||
| Orphanet:217581 | Lysosomal disease with hypertrophic cardiomyopathy | ||
| Orphanet:217587 | Mitochondrial disease with hypertrophic cardiomyopathy | ||
| Orphanet:217591 | Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy | ||
| Orphanet:217595 | Syndrome associated with hypertrophic cardiomyopathy | ||
| Orphanet:217598 | Non-familial hypertrophic cardiomyopathy | ||
| Orphanet:217601 | Hypertrophic cardiomyopathy due to intensive athletic training | ||
| Orphanet:228012 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | ||
| Orphanet:231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | ||
| Orphanet:231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation | ||
| Orphanet:231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion | ||
| Orphanet:231130 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | ||
| Orphanet:238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation | ||
| Orphanet:242 | 46,XY complete gonadal dysgenesis | ||
| Orphanet:26791 | Multiple acyl-CoA dehydrogenase deficiency | ||
| Orphanet:26793 | Very long chain acyl-CoA dehydrogenase deficiency | ||
| Orphanet:2701 | Noonan syndrome-like disorder with loose anagen hair | ||
| Orphanet:273 | Steinert myotonic dystrophy | ||
| Orphanet:289527 | Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency |