SE-ATLAS

Hurler syndrome Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Marfan syndrome type 2 Eosinophilic granulomatosis with polyangiitis Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Syndrome associated with hypertrophic cardiomyopathy Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Hurler-Scheie syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Fabry disease Primary systemic amyloidosis Non-familial hypertrophic cardiomyopathy Combined oxidative phosphorylation defect type 23 Isobutyryl-CoA dehydrogenase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Dilated cardiomyopathy Beckwith-Wiedemann syndrome due to 11p15 microduplication Histiocytoid cardiomyopathy Congenital disorder of glycosylation with dilated cardiomyopathy Multiple acyl-CoA dehydrogenase deficiency Fukutin-related limb-girdle muscular dystrophy R13 Microcephaly-cardiomyopathy syndrome Hypertrophic cardiomyopathy due to intensive athletic training Primary localized amyloidosis AL amyloidosis Long chain acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Familial dilated cardiomyopathy Mitochondrial trifunctional protein deficiency Acyl-CoA dehydrogenase 9 deficiency Alström syndrome Hypoplastic left heart syndrome Neuromuscular disease with dilated cardiomyopathy Beckwith-Wiedemann syndrome due to NSD1 mutation Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Kearns-Sayre syndrome Costello syndrome Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Mitochondrial disease with dilated cardiomyopathy HEC syndrome Dilated cardiomyopathy with ataxia Glycogen storage disease due to acid maltase deficiency, late-onset LIMS2-related myopathy Syndrome associated with dilated cardiomyopathy Fucosidosis Beckwith-Wiedemann syndrome due to CDKN1C mutation Heart-hand syndrome, Slovenian type Beckwith-Wiedemann syndrome due to 11p15 microdeletion Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Sensorineural deafness with dilated cardiomyopathy Glycogen storage disease due to LAMP-2 deficiency Polyglucosan body myopathy type 1 Jervell and Lange-Nielsen syndrome Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Non-familial dilated cardiomyopathy Cirrhotic cardiomyopathy Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion PGM1-CDG Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Familial long QT syndrome Early-onset myopathy with fatal cardiomyopathy Carvajal syndrome Timothy syndrome Romano-Ward syndrome Erythrokeratodermia-cardiomyopathy syndrome Mucopolysaccharidosis type 2, severe form Adult polyglucosan body disease Noonan syndrome with multiple lentigines Multiple acyl-CoA dehydrogenase deficiency, mild type Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Friedreich ataxia Mucopolysaccharidosis type 2, attenuated form Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Noonan syndrome Leber hereditary optic neuropathy 46,XY complete gonadal dysgenesis 1p36-Deletionssyndrom Ebstein-Anomalie der Trikuspidalklappe Emery-Dreifuss Muskeldystrophie, autosomal-dominante Hypertrophe Kardiomyopathie, fatale infantile, durch Komplex I-Defekt der mitochondriale Atmungskette Emery-Dreifuss Muskeldystrophie, autosomal-rezessive Glykogenose Typ 4, progressive hepatische Form Noonan-ähnliches Syndrom mit losem Anagenhaar Barth-Syndrom Kardio-fazio-kutanes Syndrom Fibroelastose, endokardiale McLeod Neuro-Akanthozytose-Syndrom Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel Alpha-B Crystallin-abhängige spät beginnende Myopathie Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung Beckwith-Wiedemann-Syndrom Kardiomyopathie-Katarakt-Hüftwirbelsäulenerkrankung-Syndrom Emery-Dreifuss Muskeldystrophie, X-chromosomale Beta-Mannosidose Beta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R4 Syndrom der Nierentubulopathie mit dilatierter Kardiomyopathie Mitochondriale DNA-assoziierte Kardiomyopathie mit Hörverlust Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel Glykogenose Typ 4, nonprogressive hepatische Form Emery-Dreifuss Muskeldystrophie Duchenne- und Becker-Muskeldystrophie DPM3-CDG Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1B Vici-Syndrom Brugada-Syndrom Isolierte kongenitale unkorrigierte Transposition der großen Arterien Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose Myotone Dystrophie Steinert Kongenitale unkorrigierte Transposition der großen Arterien mit Herzfehlbildung Familiäres thorakales Aortenaneurysma und Aortendissektion MELAS Familiäre dilatative Kardiomyopathie mit Reizleitungs-Defekt durch LMNA-Genmutation MERRF Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom Glykogenose durch muskulären Glykogensythasemangel Neonatale Enzephalomyopathie-Kardiomyopathie-Atemnot-Syndrom Glykogenose durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form Marfan-Syndrom Muskeldystrophie Typ Duchenne Tachykardie, katecholaminerge polymorphe ventrikuläre Muskeldystrophie Typ Becker Diabetes-Embryopathie Loeys-Dietz-Syndrom Kardiomyopathie, peripartale Kardiomyopathie, dilatative familiäre Leber plus-Krankheit DK1-CDG Hypertrophe Kardiomyopathie - Muskelhypotonie - Laktatazidose Carnitin-Mangel, primärer systemischer Carnitin-Acylcarnitin-Translokase-Mangel Nicht-familiäre seltene Krankheit mit dilatativer Kardiomyopathie Seltene hypertrophe Kardiomyopathie Kongenitale unkorrigierte Transposition der großen Arterien mit Koarktation Desminopathie Kombinierter Defekt der oxidativen Phosphorylierung Typ 17 Glykogenose durch Glykogen-Branching-Enzym-Mangel, infantile kombinierte hepatische und myopathische Form Glykogen-Speicherkrankheit mit hypertropher Kardiomyopathie Fallot-Tetralogie Mukopolysaccharidose Typ 2 Lysosomale Krankheit mit hypertropher Kardiomyopathie Marfan-Syndrom Typ 1 Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 Seltene familiäre Störung mit hypertropher Kardiomyopathie Mitochondriale Krankheit mit hypertropher Kardiomyopathie Glykogenose Typ 2, infantile Form Kongenitale unkorrigierte Transposition der großen Arterien