SE-ATLAS

1p36 deletion syndrome 46,XY complete gonadal dysgenesis AL 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 Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal recessive Emery-Dreifuss 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 Brugada syndrome Cardiofaciocutaneous syndrome Cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome Carnitine-acylcarnitine translocase deficiency Carvajal syndrome Catecholaminergic polymorphic ventricular tachycardia 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 Congenitally uncorrected transposition of the great arteries Congenitally uncorrected transposition of the great arteries with cardiac malformation Congenitally uncorrected transposition of the great arteries with coarctation Costello syndrome DK1-CDG DPM3-CDG Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Desminopathy Diabetic embryopathy 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 Ebstein malformation of the tricuspid valve Emery-Dreifuss muscular dystrophy Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Endocardial fibroelastosis Eosinophilic granulomatosis with polyangiitis Erythrokeratodermia-cardiomyopathy syndrome Fabry disease Familial dilated cardiomyopathy Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial isolated dilated cardiomyopathy Familial long QT 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 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, Slovenian type Histiocytoid cardiomyopathy Hurler syndrome Hurler-Scheie syndrome Hypertrophic cardiomyopathy due to intensive athletic training Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Hypoplastic left heart syndrome Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Isobutyryl-CoA dehydrogenase deficiency Isolated congenitally uncorrected transposition of the great arteries Jervell and Lange-Nielsen syndrome Kearns-Sayre syndrome Kidney tubulopathy-dilated cardiomyopathy syndrome LIMS2-related myopathy Leber hereditary optic neuropathy Leber plus disease Loeys-Dietz syndrome Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency Lysosomal disease with hypertrophic 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 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 Noonan syndrome Noonan syndrome with multiple lentigines Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair PGM1-CDG Peripartum cardiomyopathy Polyglucosan body myopathy type 1 Primary localized amyloidosis Primary systemic amyloidosis Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Rare familial disorder with hypertrophic cardiomyopathy Rare hypertrophic cardiomyopathy Romano-Ward syndrome Sensorineural deafness with dilated cardiomyopathy 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 Tetralogy of Fallot Timothy syndrome Very long chain acyl-CoA dehydrogenase deficiency Vici syndrome X-linked Emery-Dreifuss muscular dystrophy