SE-ATLAS

1p36 deletion syndrome 46,XY complete gonadal dysgenesis AA amyloidosis AL amyloidosis ATTRV122I amyloidosis Acyl-CoA dehydrogenase 9 deficiency Adult polyglucosan body disease Alpha-B crystallin-related late-onset myopathy Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Alström syndrome Andersen-Tawil syndrome Aneurysm-osteoarthritis syndrome Arterial tortuosity syndrome Atrial septal defect-atrioventricular conduction defects syndrome Atrial standstill Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal recessive Emery-Dreifuss muscular dystrophy BVES-related limb-girdle muscular dystrophy Barth syndrome Becker muscular dystrophy Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beta-mannosidosis Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Brachydactyly-long thumb syndrome Brugada syndrome CREST syndrome Cardiofaciocutaneous syndrome Cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Carnitine-acylcarnitine translocase deficiency Carvajal syndrome Catecholaminergic polymorphic ventricular tachycardia Chronic atrial and intestinal dysrhythmia syndrome Cirrhotic cardiomyopathy Combined oxidative phosphorylation defect type 17 Combined oxidative phosphorylation defect type 23 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Congenital disorder of glycosylation with dilated cardiomyopathy Congenital heart block Costello syndrome DK1-CDG DPM3-CDG Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Desminopathy Diabetic embryopathy Diffuse cutaneous systemic sclerosis Dilated cardiomyopathy Dilated cardiomyopathy with ataxia Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy with fatal cardiomyopathy Ehlers-Danlos syndrome with periventricular heterotopia Emery-Dreifuss muscular dystrophy Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Endocardial fibroelastosis Eosinophilic granulomatosis with polyangiitis Erythrokeratodermia-cardiomyopathy syndrome Fabry disease Familial abdominal aortic aneurysm Familial aortic dissection Familial atrial fibrillation Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease Familial bicuspid aortic valve Familial dilated cardiomyopathy Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial isolated dilated cardiomyopathy Familial isolated restrictive cardiomyopathy Familial long QT syndrome Familial progressive cardiac conduction defect Familial restrictive cardiomyopathy Familial short QT syndrome Familial sick sinus syndrome Familial thoracic aortic aneurysm and aortic dissection Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Friedreich ataxia Fucosidosis Fukutin-related limb-girdle muscular dystrophy R13 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Gaucher disease type 1 Gaucher disease type 3 Genetic cardiac rhythm disease Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease with hypertrophic cardiomyopathy HEC syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type His bundle tachycardia Histiocytoid cardiomyopathy Holt-Oram syndrome Hurler syndrome Hurler-Scheie syndrome Hypereosinophilic syndrome Hypertrophic cardiomyopathy due to intensive athletic training Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Idiopathic giant cell myocarditis Idiopathic hypereosinophilic syndrome Idiopathic ventricular fibrillation, non Brugada type Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Inherited arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant Isobutyryl-CoA dehydrogenase deficiency Jervell and Lange-Nielsen syndrome Kearns-Sayre syndrome Kidney tubulopathy-dilated cardiomyopathy syndrome LIMS2-related myopathy Leber hereditary optic neuropathy Leber plus disease Left ventricular noncompaction Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Limited cutaneous systemic sclerosis Limited systemic sclerosis Loeffler endocarditis Loeys-Dietz syndrome Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency Lown-Ganong-Levine syndrome Lymphocytic hypereosinophilic syndrome Lysosomal disease with hypertrophic cardiomyopathy Lysosomal disease with restrictive cardiomyopathy MELAS MERRF Marfan syndrome Marfan syndrome type 1 Marfan syndrome type 2 McLeod neuroacanthocytosis syndrome Microcephaly-cardiomyopathy syndrome Mitochondrial DNA-related cardiomyopathy and hearing loss Mitochondrial disease with dilated cardiomyopathy Mitochondrial disease with hypertrophic cardiomyopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial trifunctional protein deficiency Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multisystemic smooth muscle dysfunction syndrome Nathalie syndrome Naxos disease Neonatal Marfan syndrome Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Neuromuscular disease with dilated cardiomyopathy Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial rare disease with dilated cardiomyopathy Non-familial restrictive cardiomyopathy Noonan syndrome Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Ocular anomalies-axonal neuropathy-developmental delay syndrome PGM1-CDG Peripartum cardiomyopathy Polyglucosan body myopathy type 1 Primary hypereosinophilic syndrome Primary localized amyloidosis Primary systemic amyloidosis Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Pseudoxanthoma elasticum Rare cardiomyopathy Rare disease with thoracic aortic aneurysm and aortic dissection Rare familial disorder with hypertrophic cardiomyopathy Rare hypertrophic cardiomyopathy Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Restrictive cardiomyopathy Romano-Ward syndrome Sarcoidosis Secondary hypereosinophilic syndrome Sensorineural deafness with dilated cardiomyopathy Sino-auricular heart block Sinoatrial node dysfunction and deafness Steinert myotonic dystrophy Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Syndrome associated with dilated cardiomyopathy Syndrome associated with hypertrophic cardiomyopathy Systemic primary carnitine deficiency Systemic sclerosis Tako-Tsubo cardiomyopathy Timothy syndrome Torsade-de-pointes syndrome with short coupling interval Tropical endomyocardial fibrosis Uhl anomaly Unclassified cardiomyopathy Vascular Ehlers-Danlos syndrome Very long chain acyl-CoA dehydrogenase deficiency Vici syndrome Wild type ATTR amyloidosis X-linked Emery-Dreifuss muscular dystrophy X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome