Glycogen Storage Disease Ixa,Glycogen Storage Disease Ixc,Glycogen Storage Disease,Phosphorylase Kinase Deficiency,Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency,Glycogen Storage Disease Ia,Glycogen Storage Disease, Type Ixd,Glycogen Storage Disease Ix,Glycogen Storage Disease Ixb

Breast Angiosarcoma,Skin Angiosarcoma,Liver Angiosarcoma,Skin Sarcoma,Lymphangiosarcoma,Breast Sarcoma,Hydrolethalus Syndrome 1,Neuronopathy, Distal Hereditary Motor, Type Viii

Muscular Disease,Heart Disease,Constrictive Pericarditis,Congenital Fiber-Type Disproportion,Mitral Valve Insufficiency,Aortic Valve Disease 2,Congenital Structural Myopathy,Myopathy,Amyloidosis,Cardiomyopathy, Dilated, 1e,Syncope,Myofibrillar Myopathy,Atrial Heart Septal Defect,Mitochondrial Dna Depletion Syndrome 12b,Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome,Emery-Dreifuss Muscular Dystrophy,Cortical Thymoma,Muscle Tissue Disease,Morvan'S Fibrillary Chorea,Neuromuscular Disease,Hypertrophic Cardiomyopathy,Familial Isolated Dilated Cardiomyopathy,Rasopathy,Autosomal Dominant Distal Myopathy,Lung Large Cell Carcinoma,Myopathy, Distal, 1,Myositis,Myotonic Dystrophy 1,Systolic Heart Failure,Myopathy, Myofibrillar, 1,Diastolic Heart Failure,Autosomal Recessive Limb-Girdle Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a,Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j,Muscular Atrophy,Tibial Muscular Dystrophy,Limb-Girdle Muscular Dystrophy,Arrhythmogenic Right Ventricular Dysplasia, Familial, 1,Epithelial Malignant Thymoma,Hyaline Body Myopathy,Isolated Elevated Serum Creatine Phosphokinase Levels,Noonan Syndrome 1,Newborn Respiratory Distress Syndrome,Thymus Clear Cell Carcinoma,Reducing Body Myopathy,Myocarditis,Atrial Standstill 1,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10,Hereditary Proximal Myopathy With Early Respiratory Failure,Dilated Cardiomyopathy,Alcoholic Cardiomyopathy,Lmna-Related Dilated Cardiomyopathy,Thymus Gland Disease,Long Qt Syndrome,Cardiomyopathy, Dilated, 1dd,Heart Conduction Disease,Udd Distal Myopathy - Tibial Muscular Dystrophy,Muscular Dystrophy, Congenital, Lmna-Related,Neuropathy,Perinephritis,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form,Myopathy, Myofibrillar, 3,Sick Sinus Syndrome,Multiminicore Disease,Cardiomyopathy, Familial Hypertrophic, 4,Cardiomyopathy, Dilated, 1a,Congestive Heart Failure,Myopathy, Myofibrillar, 4,Left Ventricular Noncompaction 2,Foot Drop,Myopathy, Myofibrillar, 5,Rhabdomyosarcoma,Rigid Spine Muscular Dystrophy 1,Epidermolysis Bullosa Simplex With Muscular Dystrophy,Thymoma,Thymus Cancer,Dendritic Cell Thymoma,Respiratory Failure,Centronuclear Myopathy,Myopathy, Myofibrillar, 9, With Early Respiratory Failure,Cardiomyopathy, Dilated, 1g,Congenital Myasthenic Syndrome,Cardiomyopathy, Familial Hypertrophic, 9,Cardiomyopathy, Dilated, 1h,Orthostatic Intolerance,Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant,Lung Squamous Cell Carcinoma,Restrictive Cardiomyopathy,Extrinsic Cardiomyopathy,Lambert-Eaton Myasthenic Syndrome,Arrhythmogenic Right Ventricular Cardiomyopathy,Brugada Syndrome,Muscle Hypertrophy,Salih Myopathy,Nonaka Myopathy,Primary Cutaneous Amyloidosis,Distal Arthrogryposis,Familial Atrial Fibrillation,Hypermethioninemia Due To Adenosine Kinase Deficiency,Atrioventricular Block,Third-Degree Atrioventricular Block,Barth Syndrome,Cardioneuromyopathy With Hyaline Masses And Nemaline Rods,Cardiomyopathy, Familial Hypertrophic, 1,Wolff-Parkinson-White Syndrome,Muscular Dystrophy-Dystroglycanopathy , Type C, 5,Intrinsic Cardiomyopathy,Peripartum Cardiomyopathy,Lipoprotein Quantitative Trait Locus,Atrial Fibrillation,Scoliosis,Muscular Dystrophy, Duchenne Type,Myopathy, Centronuclear, X-Linked,Cardiac Arrest,Inguinal Hernia,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2,Myasthenia Gravis,Left Ventricular Noncompaction,Lethal Congenital Contracture Syndrome,Myopathy, Centronuclear, 2,Batten-Turner Congenital Myopathy,Miyoshi Muscular Dystrophy,Tibial Muscular Dystrophy, Tardive,Cardiomyopathy, Dilated, 1b

Adult-Onset Still'S Disease

Cardiomyopathy, Familial Restrictive, 2,Deafness, Autosomal Recessive 17,Deafness, Autosomal Recessive 14,Cardiomyopathy, Familial Restrictive, 3

Colorectal Cancer

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

Squamous Cell Carcinoma,Childhood Acute Lymphocytic Leukemia,Lung Cancer Susceptibility 3,Adenoid Cystic Carcinoma,Cholecystitis,Alzheimer Disease,B-Cell Lymphoma,Mixed Oligodendroglioma-Astrocytoma,Transitional Cell Carcinoma,Bladder Cancer,Tuberous Sclerosis 2,Parkinson Disease, Late-Onset,Colorectal Cancer,Pediatric Lymphoma,Oligodendroglioma,Central Neurocytoma,Ischemia,Gastric Cancer,Pancreatic Ductal Adenocarcinoma,Cholangiocarcinoma,Cervical Cancer,Cervical Squamous Cell Carcinoma,Myelodysplastic Syndrome,Nasopharyngeal Carcinoma,Lung Cancer

Focal Epithelial Hyperplasia,Osteoporosis,Peutz-Jeghers Syndrome,Gaucher Disease, Type Iii,Visual Impairment And Progressive Phthisis Bulbi

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Cdkl5 Deficiency Disorder,Ohtahara Syndrome,Seizure Disorder,Childhood Absence Epilepsy,Epilepsy,Gait Apraxia,Gene Duplication Disease,Nicolaides-Baraitser Syndrome,Amyotrophic Lateral Sclerosis 1,Angelman Syndrome,Focal Epilepsy,Developmental And Epileptic Encephalopathy 14,Epilepsy With Generalized Tonic-Clonic Seizures,Congenital Nervous System Abnormality,Developmental And Epileptic Encephalopathy,Fundus Dystrophy,Juvenile Retinoschisis,Bruxism,X-Linked Congenital Retinoschisis,Early Myoclonic Encephalopathy,Stxbp1 Encephalopathy,Microcephaly,Mental Retardation, Autosomal Dominant 20,Encephalopathy,Benign Neonatal Seizures,Alacrima, Achalasia, And Mental Retardation Syndrome,Benign Epilepsy With Centrotemporal Spikes,Developmental And Epileptic Encephalopathy 9,Methylmalonic Acidemia,Benign Familial Neonatal Epilepsy,West Syndrome,Disease Of Mental Health,Lubs X-Linked Mental Retardation Syndrome,Fragile X Syndrome,Pitt-Hopkins Syndrome,Mowat-Wilson Syndrome,Developmental And Epileptic Encephalopathy 2,Lennox-Gastaut Syndrome,Sturge-Weber Syndrome,Neonatal Period Electroclinical Syndrome,Infancy Electroclinical Syndrome,Childhood Electroclinical Syndrome,Early Infantile Epileptic Encephalopathy,Developmental And Epileptic Encephalopathy 4,Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency,Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1,Aicardi Syndrome,Specific Developmental Disorder,Pervasive Developmental Disorder,Dravet Syndrome,Developmental And Epileptic Encephalopathy 1,Benign Familial Infantile Epilepsy,Generalized Epilepsy With Febrile Seizures Plus,Pyruvate Dehydrogenase E1-Alpha Deficiency,Retinoschisis 1, X-Linked, Juvenile,Rett Syndrome,Epilepsy, Myoclonic Juvenile,Autism,Christianson Syndrome,Epilepsy, Idiopathic Generalized,Peho Syndrome

Recessive Dystrophic Epidermolysis Bullosa

Tongue Carcinoma,Neuroblastoma,Leukemia, Acute Myeloid,Sporadic Breast Cancer,Cerebellar Disease,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Microcephaly,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Retinoblastoma,Esophageal Cancer,Seckel Syndrome,Mantle Cell Lymphoma,Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked,Ovarian Clear Cell Carcinoma,Autosomal Recessive Cerebellar Ataxia,Li-Fraumeni Syndrome,Ataxia-Telangiectasia,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer

Congenital Nervous System Abnormality,Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome,Colorectal Cancer,Microcephaly,Seckel Syndrome,Microcephaly And Chorioretinopathy, Autosomal Recessive, 2,Isolated Growth Hormone Deficiency,Primary Autosomal Recessive Microcephaly,Joubert Syndrome 1,Isolated Growth Hormone Deficiency, Type Ia