SE-ATLAS

Hurler syndrome Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Marfan syndrome type 2 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Eosinophilic granulomatosis with polyangiitis Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Syndrome associated with hypertrophic cardiomyopathy Hurler-Scheie syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Primary systemic amyloidosis Isobutyryl-CoA dehydrogenase deficiency Non-familial hypertrophic cardiomyopathy Dilated cardiomyopathy Beckwith-Wiedemann syndrome due to 11p15 microduplication Microcephaly-cardiomyopathy syndrome Congenital disorder of glycosylation with dilated cardiomyopathy Hypertrophic cardiomyopathy due to intensive athletic training Primary localized amyloidosis AL amyloidosis Very long chain acyl-CoA dehydrogenase deficiency Familial dilated cardiomyopathy Mitochondrial trifunctional protein deficiency Acyl-CoA dehydrogenase 9 deficiency 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 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Mitochondrial disease with dilated cardiomyopathy HEC syndrome LIMS2-related myopathy Syndrome associated with dilated cardiomyopathy Fucosidosis Beckwith-Wiedemann syndrome due to CDKN1C mutation Heart-hand syndrome, Slovenian type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Glycogen storage disease due to LAMP-2 deficiency Jervell and Lange-Nielsen syndrome Non-familial dilated cardiomyopathy Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Cirrhotic cardiomyopathy Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Timothy syndrome Romano-Ward syndrome Mucopolysaccharidosis type 2, severe form Adult polyglucosan body disease Multiple acyl-CoA dehydrogenase deficiency, mild type Noonan syndrome with multiple lentigines Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Mucopolysaccharidosis type 2, attenuated form Noonan syndrome Leber hereditary optic neuropathy 1p36 deletion syndrome Autosomal dominant Emery-Dreifuss muscular dystrophy Ebstein malformation of the tricuspid valve 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 Barth syndrome Cardiofaciocutaneous syndrome Endocardial fibroelastosis Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Beckwith-Wiedemann syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Cardiomyopathy-cataract-hip spine disease syndrome X-linked Emery-Dreifuss muscular dystrophy Beta-mannosidosis Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Mitochondrial DNA-related cardiomyopathy and hearing loss 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 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 MERRF Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 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 Diabetic embryopathy Loeys-Dietz syndrome Peripartum cardiomyopathy Leber plus disease DK1-CDG Cardiomyopathy-hypotonia-lactic acidosis syndrome 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 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 Friedreich ataxia Glycogen storage disease due to glycogen branching enzyme deficiency Familial long QT syndrome Carvajal syndrome Kidney tubulopathy-dilated cardiomyopathy syndrome Sensorineural deafness with dilated cardiomyopathy Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Long chain acyl-CoA dehydrogenase deficiency Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Alström syndrome Dilated cardiomyopathy with ataxia Glycogen storage disease due to acid maltase deficiency, late-onset Becker muscular dystrophy Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Early-onset myopathy with fatal cardiomyopathy Kombinierter Defekt der oxidativen Phosphorylierung Typ 23 Polyglucosan-Körper-Myopathie Typ 1 Noonan-ähnliches Syndrom mit losem Anagenhaar Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form 46,XY-Gonadendysgenesie, vollständige PGM1-CDG Kardiomyopathie, dilatative familiäre Carnitin-Mangel, primärer systemischer Carnitin-Acylcarnitin-Translokase-Mangel Acyl-CoA-Dehydrogenase-Mangel, multipler McLeod Neuro-Akanthozytose-Syndrom Progressiver sensorineuraler Hörverlust - hypertrophe Kardiomyopathie Erythrokeratodermie-Kardiomyopathie-Syndrom Kardiomyopathie, histiozytoide Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 Alpha-B Crystallin-abhängige spät beginnende Myopathie Vici-Syndrom Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13 Kearns-Sayre-Syndrom Costello-Syndrom