The search resulted in 49 diseases.
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| Orphanet:111 | Barth syndrome | ||
| Orphanet:1340 | Cardiofaciocutaneous syndrome | ||
| Orphanet:1345 | Cardiomyopathy-cataract-hip spine disease | ||
| Orphanet:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | ||
| Orphanet:137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | ||
| Orphanet:1493 | Vici syndrome | ||
| Orphanet:159 | Carnitine-acylcarnitine translocase deficiency | ||
| Orphanet:1606 | 1p36 deletion syndrome | ||
| Orphanet:183 | Eosinophilic granulomatosis with polyangiitis | ||
| Orphanet:1926 | Diabetic embryopathy | ||
| Orphanet:2022 | Endomyocardial fibroelastosis | ||
| Orphanet:2119 | HEC syndrome | ||
| Orphanet:2515 | Microcephaly-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:273 | Steinert myotonic dystrophy | ||
| Orphanet:3071 | Costello syndrome | ||
| Orphanet:314701 | Primary systemic amyloidosis | ||
| Orphanet:324 | Fabry disease | ||
| Orphanet:3283 | His bundle tachycardia | ||
| Orphanet:34217 | Naxos disease | ||
| Orphanet:34587 | Glycogen storage disease due to LAMP-2 deficiency | ||
| Orphanet:363618 | LMNA-related cardiocutaneous progeria syndrome | ||
| Orphanet:363972 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ||
| Orphanet:366 | Glycogen storage disease due to glycogen debranching enzyme deficiency | ||
| Orphanet:367 | Glycogen storage disease due to glycogen branching enzyme deficiency | ||
| Orphanet:45453 | Incessant infant ventricular tachycardia | ||
| Orphanet:480 | Kearns-Sayre syndrome | ||
| Orphanet:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | ||
| Orphanet:550 | MELAS | ||
| Orphanet:551 | MERRF | ||
| Orphanet:580 | Mucopolysaccharidosis type 2 | ||
| Orphanet:59306 | McLeod neuroacanthocytosis syndrome | ||
| Orphanet:60041 | Congenital heart block | ||
| Orphanet:62 | Autosomal recessive limb-girdle muscular dystrophy type 2D | ||
| Orphanet:746 | Mitochondrial trifunctional protein deficiency | ||
| Orphanet:758 | Pseudoxanthoma elasticum | ||
| Orphanet:85443 | AL amyloidosis | ||
| Orphanet:85451 | ATTRV122I amyloidosis | ||
| Orphanet:93473 | Hurler syndrome | ||
| Orphanet:93476 | Hurler-Scheie syndrome | ||
| Orphanet:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | ||
| Orphanet:98909 | Desminopathy | ||
| Orphanet:99901 | Acyl-CoA dehydrogenase 9 deficiency | ||
| OMIM:225740 | Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts | ||
| OMIM:229300 | Friedreich ataxia 1 | ||
| OMIM:601992 | Friedreich ataxia 2 | ||
| OMIM:300829 | Cardiomyopathy, fatal fetal, due to myocardial calcification |