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 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 Desminopathie Déficit combiné de la phosphorylation oxydative type 17 Glycogénose par déficit en enzyme branchante de l'enfant, forme hépatique et myopathique Maladie de stockage du glycogène avec cardiomyopathie hypertrophique Tétralogie de Fallot Mucopolysaccharidose type 2 Maladie lysosomale avec cardiomyopathie hypertrophique Syndrome de Marfan type 1 Syndrome de Beckwith-Wiedemann dû à une disomie uniparentale d'origine paternelle du chromosome 11 Trouble familial rare avec cardiomyopathie hypertrophique Maladie mitochondriale avec cardiomyopathie hypertrophique Glycogénose par déficit en maltase acide à début infantile Transposition congénitalement non corrigée des gros vaisseaux