SE-ATLAS

Hurler-Syndrom Fettsäureoxidationsstörung und Ketogenese-Defekt mit hypertropher Kardiomyopathie Marfan-Syndrom Typ 2 Eosinophile Granulomatose mit Polyangiitis Hypertrophe Kardiomyopathie mit Nierenanomalien durch mitochondriale DNA-Mutation Kardiomyopathie, dilatative - hypergonadotroper Hypogonadismus Seltenes Syndrom mit assoziierter hypertropher Kardiomyopathie Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen Hurler-Scheie-Syndrom Glykogenose durch Glykogen-Branching-Enzym-Mangel, infantile neuromuskuläre Form Fabry-Syndrom Amyloidose, primäre systemische Kardiomyopathie, hypertrophe, nicht-familiäre Form Kombinierter Defekt der oxidativen Phosphorylierung Typ 23 Isobutyryl-CoA-Dehydrogenasemangel Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form Kardiomyopathie, dilatative Beckwith-Wiedemann-Syndrom durch Mikroduplikation 11p15 Kardiomyopathie, histiozytoide Kongenitale Glykosylierungsstörung mit dilatativer Kardiomyopathie Acyl-CoA-Dehydrogenase-Mangel, multipler Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13 Mikrozephalie - Kardiomyopathie Hypertrophe Kardiomyopathie durch intensives athletisches Training Amyloidose, lokalisierte primäre AL-Amyloidose Langketten-Acyl-CoA-Dehydrogenase-Mangel Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Alpha-Sarkoglykan assoziierte Gliedergürtelmuskeldystrophie R3 Kardiomyopathie, dilatative, familiäre Form Defekt des mitochondrialen trifunktionalen Proteins Acyl-CoA-Dehydrogenase 9-Mangel Alström-Syndrom Hypoplastisches Linksherzsyndrom Neuromuskuläre Krankheit mit dilatativer Kardiomyopathie Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation Fettsäureoxidationsstörung und Ketogenese-Defekt mit dilatativer Kardiomyopathie Kearns-Sayre-Syndrom Costello-Syndrom Beckwith-Wiedemann-Syndrom durch Imprintingdefekt von 11p15 Mitochondriale Krankheit mit dilatativer Kardiomyopathie HEC-Syndrom Dilatative Kardiomyopathie mit Ataxie Glykogenose durch Saure-Maltase-Mangel, spät beginnende Form Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2W Seltenes Syndrom mit assoziierter dilatativer Kardiomyopathie Fukosidose Beckwith-Wiedemann-Syndrom durch CDKN1C-Mangel Herz-Hand-Syndrom, slowenischer Typ Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ Gamma-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R5 Sensorineurale Schwerhörigkeit mit dilatativer Kardiomyopathie Glykogenose durch LAMP-2-Mangel Polyglucosan-Körper-Myopathie Typ 1 Jervell-Lange-Nielsen-Syndrom Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6 Kardiomyopathie, dilatative, nicht-familiäre Form Kardiomyopathie, zirrhotische Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion PGM1-CDG Noonan-ähnliches Syndrom mit juveniler myelomonozytischer Leukämie Long-QT-Syndrom, familiäres Myopathie mit fataler Kardiomyopathie, früh-beginnende Form Carvajal-Syndrom Timothy-Syndrom Romano-Ward-Syndrom Erythrokeratodermie-Kardiomyopathie-Syndrom Mukopolysaccharidose Typ 2, schwere Form Polyglukosankörper-Krankheit, adulte Noonan-Syndrom mit multiplen Lentigines Multipler Acyl-CoA-Dehydrogenase-Mangel, milder Typ Glykogenose Typ 2 Glykogenose Typ 3 Glykogenose Typ 4 Friedreich-Ataxie Mukopolysaccharidose Typ 2, attenuierte Form Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Noonan syndrome Leber hereditary optic neuropathy 46,XY complete gonadal dysgenesis 1p36 deletion syndrome Ebstein malformation of the tricuspid valve Autosomal dominant Emery-Dreifuss muscular dystrophy Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Autosomal recessive Emery-Dreifuss muscular dystrophy Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Noonan syndrome-like disorder with loose anagen hair Barth syndrome Cardiofaciocutaneous syndrome Endocardial fibroelastosis McLeod neuroacanthocytosis syndrome Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Alpha-B crystallin-related late-onset myopathy Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Beckwith-Wiedemann syndrome Cardiomyopathy-cataract-hip spine disease syndrome X-linked Emery-Dreifuss muscular dystrophy Beta-mannosidosis Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Kidney tubulopathy-dilated cardiomyopathy syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy DPM3-CDG Autosomal dominant limb-girdle muscular dystrophy type 1B Vici syndrome Brugada syndrome Isolated congenitally uncorrected transposition of the great arteries Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Steinert myotonic dystrophy Congenitally uncorrected transposition of the great arteries with cardiac malformation Familial thoracic aortic aneurysm and aortic dissection MELAS Familial dilated cardiomyopathy with conduction defect due to LMNA mutation MERRF Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Glycogen storage disease due to muscle and heart glycogen synthase deficiency Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Marfan syndrome Duchenne muscular dystrophy Catecholaminergic polymorphic ventricular tachycardia Becker muscular dystrophy Diabetic embryopathy Loeys-Dietz syndrome Peripartum cardiomyopathy Familial isolated dilated cardiomyopathy Leber plus disease DK1-CDG Cardiomyopathy-hypotonia-lactic acidosis syndrome Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Non-familial rare disease with dilated cardiomyopathy Rare hypertrophic cardiomyopathy Congenitally uncorrected transposition of the great arteries with coarctation Desminopathy Combined oxidative phosphorylation defect type 17 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease with hypertrophic cardiomyopathy Tetralogy of Fallot Mucopolysaccharidosis type 2 Lysosomal disease with hypertrophic cardiomyopathy Marfan syndrome type 1 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Rare familial disorder with hypertrophic cardiomyopathy Mitochondrial disease with hypertrophic cardiomyopathy Glycogen storage disease due to acid maltase deficiency, infantile onset Congenitally uncorrected transposition of the great arteries