The search resulted in 83 diseases.
Orphanet:104 Leber hereditary optic neuropathy
Orphanet:111 Barth syndrome
Orphanet:118 Beta-mannosidosis
Orphanet:119 Autosomal recessive limb-girdle muscular dystrophy type 2E
Orphanet:1340 Cardiofaciocutaneous syndrome
Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Orphanet:1493 Vici syndrome
Orphanet:158 Carnitine uptake deficiency
Orphanet:1606 1p36 deletion syndrome
Orphanet:183 Eosinophilic granulomatosis with polyangiitis
Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Orphanet:206554 Autosomal recessive limb-girdle muscular dystrophy type 2M
Orphanet:206583 Adult polyglucosan body disease
Orphanet:217085 Mucopolysaccharidosis type 2, severe form
Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form
Orphanet:219 Autosomal recessive limb-girdle muscular dystrophy type 2F
Orphanet:228429 Generalized congenital lipodystrophy with myopathy
Orphanet:2515 Microcephaly-cardiomyopathy syndrome
Orphanet:261 Emery-Dreifuss muscular dystrophy
Orphanet:262 Duchenne and Becker muscular dystrophy
Orphanet:263494 DPM3-CDG
Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B
Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency
Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency
Orphanet:273 Steinert myotonic dystrophy
Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy
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:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form