SE-ATLAS

Kardiomyopathie, dilatative, familiäre Form Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Mukopolysaccharidose Typ 2, attenuierte Form Kardiomyopathie, dilatative Neuromuskuläre Krankheit mit dilatativer Kardiomyopathie Syndrom der Nierentubulopathie mit dilatierter Kardiomyopathie Mitochondriale Krankheit mit dilatativer Kardiomyopathie Hereditäre isolierte arrhythmogene Kardiomyopathie, biventrikuläre Form Seltenes Syndrom mit assoziierter dilatativer Kardiomyopathie Hereditäre isolierte arrhythmogene Kardiomyopathie, rechtsdominante Form Fettsäureoxidationsstörung und Ketogenese-Defekt mit dilatativer Kardiomyopathie Familiäre atriale Tachyarrhythmie mit infrahissärer Leitungsstörung Sensorineurale Schwerhörigkeit mit dilatativer Kardiomyopathie Jervell-Lange-Nielsen-Syndrom Kardiomyopathie, dilatative, nicht-familiäre Form Kardiomyopathie, restriktive, familiäre Form Kardiomyopathie, restriktive Emery-Dreifuss Muskeldystrophie, autosomal-dominante Lysosomale Krankheit mit restriktiver Kardiomyopathie MELAS Emery-Dreifuss Muskeldystrophie, autosomal-rezessive MERRF Fatale kongenitale hypertrophe Kardiomyopathie durch Glykogenose Emery-Dreifuss Muskeldystrophie, X-chromosomale Marfan-Syndrom Acyl-CoA-Dehydrogenase 9-Mangel Langketten-Acyl-CoA-Dehydrogenase-Mangel Alpha-Sarkoglykan assoziierte Gliedergürtelmuskeldystrophie R3 Alström-Syndrom Hypereosinophiles Syndrom, primäres Mukopolysaccharidose Typ 2 1p36-Deletionssyndrom HEC-Syndrom Glykogenose durch Saure-Maltase-Mangel, spät beginnende Form Dilatative Kardiomyopathie mit Ataxie Kardiomyopathie, nicht klassifizierte Muskeldystrophie Typ Becker Aortenaneurysma, abdominales, familiäre Form Friedreich-Ataxie Myopathie mit fataler Kardiomyopathie, früh-beginnende Form Nathalie-Syndrom Rezidivierende metabolische enzephalomyopathische Krisen-Rhabdomyolyse-Herzrhythmusstörung-Intelligenzminderung-Syndrom Barth-Syndrom Beckwith-Wiedemann-Syndrom Loeys-Dietz-Syndrom Brugada-Syndrom Noonan-ähnliches Syndrom mit losem Anagenhaar Optikusatrophie-periphere Neuropathie-Entwicklungsverzögerung-Syndrom Kardiomyopathie, dilatative familiäre Kardiomyopathie, peripartale Muskeldystrophie Typ Duchenne Ehlers-Danlos-Syndrom mit periventrikulärer Heterotopie Desminopathie Hypereosinophiles Syndrom, lymphoides Leber-Optikusneuropathie, hereditäre Kombinierter Defekt der oxidativen Phosphorylierung Typ 23 Beta-Mannosidose Beta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R4 Polyglucosan-Körper-Myopathie Typ 1 Kardiomyopathie, restriktive, nicht-familiäre Form Noonan-Syndrom Herzblock, kongenitaler Romano-Ward-Syndrom Nicht-familiäre seltene Krankheit mit dilatativer Kardiomyopathie Carnitin-Mangel, primärer systemischer Carnitin-Acylcarnitin-Translokase-Mangel Acyl-CoA-Dehydrogenase-Mangel, multipler Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Progressiver sensorineuraler Hörverlust - hypertrophe Kardiomyopathie His-Bündel-Tachykardie Alpha-B Crystallin-abhängige spät beginnende Myopathie Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 Tachykardie, katecholaminerge polymorphe ventrikuläre Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13 Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6 Sinusknoten-Dysfunktion und Schwerhörigkeit Aortendissektion, familiäre Defekt des mitochondrialen trifunktionalen Proteins Systemische Sklerose, diffuse kutane Herzblock, sinuaurikulärer Systemische Sklerose, kutane limitierte 46,XY-Gonadendysgenesie, vollständige Hypertrophe Kardiomyopathie, fatale infantile, durch Komplex I-Defekt der mitochondriale Atmungskette Polyglukosankörper-Krankheit, adulte Systemische Sklerose, limitierte Pseudoxanthoma elasticum Hereditäre arrhythmogene Kardiomyopathie Familiäres thorakales Aortenaneurysma und Aortendissektion Kombinierter Defekt der oxidativen Phosphorylierung Typ 17 Long-QT-Syndrom, familiäres Duchenne- und Becker-Muskeldystrophie Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1B Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel Arterial-Tortuosity-Syndrom Myotone Dystrophie Steinert Syndrom der chronischen atrialen und intestinalen Rhythmusstörung Wildtyp-ATTR-Amyloidose Glykogenose durch LAMP-2-Mangel Sarkoidose Ehlers-Danlos-Syndrom, vaskulärer Typ Hurler-Syndrom Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ Hurler-Scheie-Syndrom Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ Marfan-Syndrom Typ 1 Marfan-Syndrom Typ 2 Endomyokardfibrose, tropische Löffler-Endokarditis Kammerflimmern, idiopathisches (nicht Brugada-Typ) Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel Isobutyryl-CoA-Dehydrogenasemangel Marfan-Syndrom, neonatales Aneurysma-Osteoarthritis-Syndrom Kardio-fazio-kutanes Syndrom Herz-Hand-Syndrom Typ 3 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Atrial standstill Cardiomyopathy-cataract-hip spine disease syndrome DPM3-CDG Mitochondrial DNA-related cardiomyopathy and hearing loss Heart-hand syndrome type 2 Primary systemic amyloidosis Uhl anomaly Glycogen storage disease due to acid maltase deficiency, infantile onset Lown-Ganong-Levine syndrome Beckwith-Wiedemann syndrome due to 11p15 microduplication Familial atrial fibrillation Primary localized amyloidosis Rare disease with thoracic aortic aneurysm and aortic dissection Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Fucosidosis Heart-hand syndrome, Slovenian type Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Familial progressive cardiac conduction defect 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 LIMS2-related myopathy Brachydactyly-long thumb syndrome Diabetic embryopathy Leber plus disease Holt-Oram syndrome Familial sick sinus syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Familial short QT syndrome Torsade-de-pointes syndrome with short coupling interval Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Rare familial disorder with hypertrophic cardiomyopathy Glycogen storage disease due to muscle and heart glycogen synthase deficiency Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia AL amyloidosis AA amyloidosis Atrial septal defect-atrioventricular conduction defects syndrome Erythrokeratodermia-cardiomyopathy syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Histiocytoid cardiomyopathy Gaucher disease type 1 ATTRV122I amyloidosis Gaucher disease type 3 Microcephaly-cardiomyopathy syndrome Vici syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Kearns-Sayre syndrome Tako-Tsubo cardiomyopathy Endocardial fibroelastosis Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Multisystemic smooth muscle dysfunction syndrome Congenital disorder of glycosylation with dilated cardiomyopathy Lysosomal disease with hypertrophic cardiomyopathy Mitochondrial disease with hypertrophic cardiomyopathy Familial isolated restrictive cardiomyopathy Noonan syndrome with multiple lentigines DK1-CDG Cardiomyopathy-hypotonia-lactic acidosis syndrome Non-familial hypertrophic cardiomyopathy Hypereosinophilic syndrome Mucopolysaccharidosis type 2, severe form Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Left ventricular noncompaction Costello syndrome Beckwith-Wiedemann syndrome due to NSD1 mutation Secondary hypereosinophilic syndrome Idiopathic giant cell myocarditis Systemic sclerosis Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Carvajal syndrome Emery-Dreifuss muscular dystrophy Rare cardiomyopathy McLeod neuroacanthocytosis syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Cirrhotic cardiomyopathy Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Rare hypertrophic cardiomyopathy Glycogen storage disease with hypertrophic cardiomyopathy Syndrome associated with hypertrophic cardiomyopathy Hypertrophic cardiomyopathy due to intensive athletic training Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant Genetic cardiac rhythm disease Inherited isolated arrhythmogenic cardiomyopathy PGM1-CDG Familial bicuspid aortic valve Andersen-Tawil syndrome CREST syndrome Eosinophilic granulomatosis with polyangiitis Timothy syndrome Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Idiopathic hypereosinophilic syndrome Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to CDKN1C mutation Naxos disease BVES-related limb-girdle muscular dystrophy