The search resulted in 49 diseases.
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