SE-ATLAS

Multiple acyl-CoA dehydrogenase deficiency Coenzyme Q10 deficiency Proximal myotonic myopathy Fetal akinesia-cerebral and retinal hemorrhage syndrome Hereditary myopathy with early respiratory failure X-linked myopathy with postural muscle atrophy Autosomal recessive centronuclear myopathy Arthrogryposis due to muscular dystrophy Bethlem muscular dystrophy X-linked myopathy with excessive autophagy Juvenile polyposis syndrome Congenital muscular dystrophy with intellectual disability and severe epilepsy Kearns-Sayre syndrome Progressive scapulohumeroperoneal distal myopathy Isolated oxidative phosphorylation complex disorder Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Congenital myopathy with myasthenic-like onset Hereditary thermosensitive neuropathy Congenital fibrosis of extraocular muscles Congenital myasthenic syndromes with glycosylation defect Pure mitochondrial myopathy Intestinal polyposis syndrome Refsum disease Charcot-Marie-Tooth disease type 1E Infantile-onset spinocerebellar ataxia Autosomal dominant Charcot-Marie-Tooth disease type 2 Myosin storage myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2C Leigh syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2B Dejerine-Sottas syndrome Hereditary nonpolyposis colon cancer NARP syndrome Congenital muscular dystrophy due to dystroglycanopathy Autosomal dominant Charcot-Marie-Tooth disease type 2D Mitochondrial DNA depletion syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2G Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2F Benign Samaritan congenital myopathy Leber hereditary optic neuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2I Hereditary motor and sensory neuropathy type 6 Autosomal dominant Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2L Autosomal dominant optic atrophy Congenital myopathy, Paradas type Ehlers-Danlos syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2K Polymerase proofreading-related adenomatous polyposis X-linked myotubular myopathy-abnormal genitalia syndrome Cowden syndrome Juvenile polyposis of infancy Autosomal dominant centronuclear myopathy Hereditary motor and sensory neuropathy type 5 MUTYH-related attenuated familial adenomatous polyposis Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Autosomal recessive Emery-Dreifuss muscular dystrophy Megaconial congenital muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Bannayan-Riley-Ruvalcaba syndrome Charcot-Marie-Tooth disease type 4D Congenital fiber-type disproportion myopathy Barth syndrome Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies NTHL1-related attenuated familial adenomatous polyposis X-linked Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy with cerebellar involvement Li-Fraumeni syndrome APC-related attenuated familial adenomatous polyposis Charcot-Marie-Tooth disease type 2P Congenital muscular dystrophy with intellectual disability Familial adenomatous polyposis due to 5q22.2 microdeletion Turcot syndrome with polyposis DPM3-CDG Schwartz-Jampel syndrome Severe congenital nemaline myopathy Laminin subunit alpha 2-related congenital muscular dystrophy Fingerprint body myopathy Birt-Hogg-Dubé syndrome Congenital lethal myopathy, Compton-North type Emery-Dreifuss muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2O Autosomal dominant Charcot-Marie-Tooth disease type 2N Duchenne and Becker muscular dystrophy Typical nemaline myopathy Reducing body myopathy Limb-girdle muscular dystrophy Congenital muscular dystrophy without intellectual disability Hereditary mixed polyposis syndrome Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Intermediate nemaline myopathy Autosomal recessive limb-girdle muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant limb-girdle muscular dystrophy Zebra body myopathy Serrated polyposis syndrome Native American myopathy Congenital muscular dystrophy Facioscapulohumeral dystrophy Oculopharyngeal muscular dystrophy Muscular dystrophy Congenital myopathy Rigid spine syndrome Steinert myotonic dystrophy X-linked scapuloperoneal muscular dystrophy Congenital myopathy with internal nuclei and atypical cores Tubular aggregate myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MELAS Peutz-Jeghers syndrome Ullrich congenital muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2Q Becker muscular dystrophy Congenital muscular dystrophy type 1B Oculopharyngodistal myopathy Gardner syndrome Progressive muscular dystrophy Duchenne muscular dystrophy Congenital muscular dystrophy with integrin alpha-7 deficiency Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1A Autosomal dominant Charcot-Marie-Tooth disease type 2U Charcot-Marie-Tooth disease type 1C Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Pearson syndrome Charcot-Marie-Tooth disease type 1B Myotonic dystrophy Constitutional mismatch repair deficiency syndrome Charcot-Marie-Tooth disease type 1F Amish nemaline myopathy Charcot-Marie-Tooth disease type 1D Congenital myopathy with excess of thin filaments MYH7-related late-onset scapuloperoneal muscular dystrophy Mitochondrial neurogastrointestinal encephalomyopathy Congenital nemaline myopathy Congenital muscular dystrophy with hyperlaxity Autosomal dominant Charcot-Marie-Tooth disease type 2Y Presynaptic congenital myasthenic syndromes Postsynaptic congenital myasthenic syndromes Familial atypical multiple mole melanoma syndrome Cap myopathy Cylindrical spirals myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2Z Synaptic congenital myasthenic syndromes Congenital muscular dystrophy due to LMNA mutation Congenital myopathy with cores Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome King-Denborough syndrome Myopathy with hexagonally cross-linked tubular arrays Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Autosomal recessive myogenic arthrogryposis multiplex congenita Congenital myasthenic syndrome Generalized juvenile polyposis/juvenile polyposis coli Alpers-Huttenlocher syndrome Thiamine-responsive megaloblastic anemia syndrome Attenuated familial adenomatous polyposis Autosomal dominant Charcot-Marie-Tooth disease type 2V Mitochondrial disease Centronuclear myopathy Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers X-linked centronuclear myopathy Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Familial adenomatous polyposis Central core disease Multiminicore myopathy Wolfram syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Hereditary diffuse gastric cancer