The search resulted in 73 diseases.
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