The search resulted in 61 diseases.
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| Orphanet:111 | Barth syndrome | ||
| Orphanet:119 | Autosomal recessive limb-girdle muscular dystrophy type 2E | ||
| Orphanet:1340 | Cardiofaciocutaneous syndrome | ||
| Orphanet:1349 | Maternally-inherited cardiomyopathy and hearing loss | ||
| Orphanet:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | ||
| Orphanet:1493 | Vici syndrome | ||
| Orphanet:158 | Carnitine uptake deficiency | ||
| Orphanet:1926 | Diabetic embryopathy | ||
| Orphanet:217601 | Hypertrophic cardiomyopathy due to intensive athletic training | ||
| Orphanet:219 | Autosomal recessive limb-girdle muscular dystrophy type 2F | ||
| Orphanet:228012 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | ||
| 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: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:314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | ||
| Orphanet:319678 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | ||
| Orphanet:324 | Fabry disease | ||
| Orphanet:324525 | Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | ||
| Orphanet:34587 | Glycogen storage disease due to LAMP-2 deficiency | ||
| Orphanet:352563 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | ||
| Orphanet:367 | Glycogen storage disease due to glycogen branching enzyme deficiency | ||
| Orphanet:369913 | Combined oxidative phosphorylation defect type 17 | ||
| Orphanet:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | ||
| Orphanet:500 | Noonan syndrome with multiple lentigines | ||
| Orphanet:550 | MELAS | ||
| Orphanet:551 | MERRF | ||
| Orphanet:57777 | Cirrhotic cardiomyopathy | ||
| Orphanet:648 | Noonan syndrome | ||
| Orphanet:65283 | Timothy syndrome | ||
| Orphanet:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | ||
| Orphanet:98909 | Desminopathy | ||
| Orphanet:99901 | Acyl-CoA dehydrogenase 9 deficiency | ||
| Orphanet:90022 | Cardiomyopathy-renal anomalies | ||
| OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | ||
| OMIM:192600 | Cardiomyopathy, familial hypertrophic, 1 | ||
| OMIM:229300 | Friedreich ataxia 1 | ||
| OMIM:600858 | Cardiomyopathy, familial hypertrophic, 6 | ||
| OMIM:601494 | Cardiomyopathy, dilated, 1D | ||
| OMIM:607482 | Cardiomyopathy, dilated, 1M | ||
| OMIM:607487 | Cardiomyopathy, hypertrophic, 25 | ||
| OMIM:608751 | Cardiomyopathy, familial hypertrophic, 8 | ||
| OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | ||
| OMIM:612124 | Cardiomyopathy, familial hypertrophic, 12 | ||
| OMIM:612158 | Cardiomyopathy, dilated, 1AA with or without left ventricular noncompaction | ||
| OMIM:612422 | Cardiomyopathy, familial restrictive, 3 | ||
| OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | ||
| OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | ||
| OMIM:613690 | Cardiomyopathy, familial hypertrophic, 7 | ||
| OMIM:613765 | Cardiomyopathy, familial hypertrophic, 9 | ||
| OMIM:613838 | Cardiomyopathy, familial hypertrophic, 16 | ||
| OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | ||
| OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | ||
| OMIM:613875 | Cardiomyopathy, familial hypertrophic, 19 | ||
| OMIM:613876 | Cardiomyopathy, familial hypertrophic, 20 | ||
| OMIM:614676 | Cardiomyopathy, familial hypertrophic, 21 | ||
| OMIM:615248 | Cardiomyopathy, dilated, 1KK | ||
| Orphanet:457185 | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ||
| OMIM:617047 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 |