SE-ATLAS

Syndrome de Hurler Anomalie de l'oxydation des acides gras et de la cétogenèse avec cardiomyopathie hypertrophique Syndrome de Marfan type 2 Cardiomyopathie hypertrophique avec anomalies rénales dues à une mutation de l'ADN mitochondrial Granulomatose éosinophilique avec polyangéite Syndrome de cardiomyopathie dilatée-hypogonadisme hypergonadotrope Syndrome associé à une cardiomyopathie hypertrophique Syndrome de Hurler-Scheie Glycogénose par déficit en enzyme branchante de l'enfant, forme neuromusculaire Amylose primitive systémique Déficit en isobutyryl-CoA déshydrogénase Cardiomyopathie hypertrophique non familiale Cardiomyopathie dilatée Syndrome de Beckwith-Wiedemann dû à une microduplication 11p15 Syndrome de microcéphalie-cardiomyopathie Anomalie congénitale de la glycosylation avec cardiomyopathie dilatée Cardiomyopathie hypertrophique due à un entraînement athlétique intensif Amylose primitive localisée Amylose AL Déficit en acyl-CoA déshydrogénase des acides gras à chaîne très longue Cardiomyopathie dilatée familiale Déficit en protéine trifonctionnelle mitochondriale Déficit en acyl-CoA déshydrogénase 9 Hypoplasie du coeur gauche Maladie neuromusculaire avec cardiomyopathie dilatée Syndrome de Beckwith-Wiedemann dû à une mutation de NSD1 Anomalie de l'oxydation des acides gras et de la cétogenèse avec cardiomyopathie dilatée Syndrome de Beckwith-Wiedemann dû à un défaut d'empreinte de la région 11p15 Maladie mitochondriale avec cardiomyopathie dilatée Syndrome HEC Myopathie associée à LIMS2 Syndrome associé à une cardiomyopathie dilatée Fucosidose Syndrome de Beckwith-Wiedemann dû à une mutation de CDKN1C Syndrome cardiomélique type slovène Déficit multiple en acyl-CoA déshydrogénase, type sévère néonatal Glycogénose par déficit en LAMP-2 Syndrome de Jervell et Lange-Nielsen Cardiomyopathie dilatée non familiale Dystrophie musculaire des ceintures liée au delta-sarcoglycane R6 Cardiomyopathie cirrhotique Syndrome de Beckwith-Wiedemann dû à une translocation/inversion 11p15 Syndrome Noonan-like avec leucémie myélomonocytaire juvénile 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 Combined oxidative phosphorylation defect type 23 Polyglucosan body myopathy type 1 Noonan syndrome-like disorder with loose anagen hair Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 46,XY complete gonadal dysgenesis PGM1-CDG Familial isolated dilated cardiomyopathy Systemic primary carnitine deficiency Carnitine-acylcarnitine translocase deficiency Multiple acyl-CoA dehydrogenase deficiency McLeod neuroacanthocytosis syndrome Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Erythrokeratodermia-cardiomyopathy syndrome Histiocytoid cardiomyopathy Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Beckwith-Wiedemann syndrome due to 11p15 microdeletion Alpha-B crystallin-related late-onset myopathy Vici syndrome Fukutin-related limb-girdle muscular dystrophy R13 Kearns-Sayre syndrome Costello syndrome