SE-ATLAS

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