Articulation Disorder,Retinitis Pigmentosa,Kagami-Ogata Syndrome,Status Epilepticus,Epilepsy,Speech Disorder,Spontaneous Ocular Nystagmus,Sodoku Disease,Ulnar Nerve Lesion,Amyotrophic Lateral Sclerosis 1,Motor Neuron Disease,Arthrogryposis, Distal, Type 1a,Spinocerebellar Ataxia 1,Cerebellar Disease,Osteoporosis,Parkinson Disease, Late-Onset,Breast Fibrosarcoma,Bipolar Disorder,Autosomal Dominant Cerebellar Ataxia,Temporal Lobe Epilepsy,Mental Retardation, X-Linked, Syndromic 13,Disease Of Mental Health,Nephrotic Syndrome, Type 10,Schizophrenia,Spinocerebellar Ataxia 38,Congenital Stationary Night Blindness,Huntington Disease,Stuttering,Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive,Autism

Migraine With Or Without Aura 1,Dental Anomalies And Short Stature,Nystagmus 2, Congenital, Autosomal Dominant,Migraine With Aura,Acute Interstitial Pneumonia,Wolfram Syndrome,Bipolar Disorder,Disease Of Mental Health,Schizophrenia,Migraine, Familial Hemiplegic, 1,Familial Hemiplegic Migraine,Acrofacial Dysostosis,Acrofacial Dysostosis 1, Nager Type

Tinea Nigra,Drug Psychosis,Drug-Induced Mental Disorder,Blastomycosis,Substance-Induced Psychosis,Spinal Cord Lymphoma,Mucolipidosis Iii Gamma

Fundus Dystrophy,Primary Congenital Glaucoma,Leber Congenital Amaurosis 1

Spastic Paraplegia 20, Autosomal Recessive,Cataract 8, Multiple Types,Vaccinia,Hypercholesterolemia, Familial, 4,Menkes Disease

Prostate Cancer,Nance-Horan Syndrome

Ulcer Of Lower Limbs,Coffin-Siris Syndrome 1,Autosomal Dominant Non-Syndromic Intellectual Disability

Muscular Disease,Migraine With Or Without Aura 1,Myopathy,Paresthesia,Myofibrillar Myopathy,Emery-Dreifuss Muscular Dystrophy,Muscle Tissue Disease,Neuromuscular Disease,Bethlem Myopathy 1,Facioscapulohumeral Muscular Dystrophy 1,Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2,Amyotrophic Lateral Sclerosis 1,Myositis,Calpain-3-Related Limb-Girdle Muscular Dystrophy R1,Myopathy, Myofibrillar, 1,Spinal Muscular Atrophy,Autosomal Dominant Limb-Girdle Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a,Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l,Muscular Atrophy,Tibial Muscular Dystrophy,Limb-Girdle Muscular Dystrophy,Isolated Elevated Serum Creatine Phosphokinase Levels,Idiopathic Eosinophilic Myositis,Dysferlinopathy,Muscular Dystrophy-Dystroglycanopathy , Type C, 2,Heart Conduction Disease,Muscular Dystrophy, Congenital, Lmna-Related,Myopathy, Myofibrillar, 3,Miyoshi Muscular Dystrophy 3,Cardiac Arrhythmia,Progressive Muscular Atrophy,Back Pain,Rigid Spine Muscular Dystrophy 1,Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1,Myopathy, Myofibrillar, 9, With Early Respiratory Failure,Creatine Phosphokinase, Elevated Serum,Glycogen Storage Disease Ii,Muscular Dystrophy, Becker Type,Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4,Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant,Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency,Walker-Warburg Syndrome,Muscular Dystrophy-Dystroglycanopathy , Type C, 4,Nonaka Myopathy,Coffin-Siris Syndrome 1,Muscular Dystrophy-Dystroglycanopathy , Type C, 5,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2,Ullrich Congenital Muscular Dystrophy 1,Miyoshi Muscular Dystrophy

Alzheimer Disease 15,Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy,Ventricular Tachycardia, Catecholaminergic Polymorphic, 2,Syndromic Intellectual Disability

Myopathy,Scapuloperoneal Syndrome, Neurogenic, Kaeser Type,Primary Cutaneous Amyloidosis,Cardiomyopathy, Familial Hypertrophic, 1,Myopathy, Centronuclear, 2

Alzheimer Disease,Branchiootorenal Syndrome 2

Ocular Melanoma,Keratosis Follicularis Spinulosa Decalvans,Acquired Color Blindness

Hypertrophic Cardiomyopathy,Familial Long Qt Syndrome,Phencyclidine Abuse,Long Qt Syndrome,Long Qt Syndrome 15,Second-Degree Atrioventricular Block,Long Qt Syndrome 1,Catecholaminergic Polymorphic Ventricular Tachycardia

Microcephaly, Seizures, And Developmental Delay,Contractural Arachnodactyly, Congenital,Distal Arthrogryposis

Alzheimer Disease,Amyotrophic Lateral Sclerosis 1,X-Linked Cerebellar Ataxia,Deafness, Autosomal Dominant 58,Crouzon Syndrome With Acanthosis Nigricans,Spinocerebellar Ataxia, X-Linked 3,Spinocerebellar Ataxia, X-Linked 4,Spinocerebellar Ataxia, X-Linked 1

Hypertrichosis,Charcot-Marie-Tooth Disease, Recessive Intermediate A,Necrotizing Soft Tissue Infection,Progeroid Syndrome,Craniosynostosis,Progeroid Syndrome Petty Type,Dementia,Hutchinson-Gilford Progeria Syndrome,Fontaine Progeroid Syndrome,Body Dysmorphic Disorder,Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes,Myoclonic Epilepsy Associated With Ragged-Red Fibers,Sengers Syndrome

Liver Disease,Bile Duct Disease,Citrullinemia, Classic,Amino Acid Metabolic Disorder,Urea Cycle Disorder,Fatty Liver Disease,Biliary Tract Disease,Brain Edema,Developmental And Epileptic Encephalopathy 39,Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive,Bilirubin Metabolic Disorder,Hepatic Encephalopathy,Cholestasis,Obstructive Jaundice,Citrullinemia, Type Ii, Adult-Onset,Galactosemia I,Asperger Syndrome,Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome,Hypermethioninemia,Citrullinemia, Type Ii, Neonatal-Onset,3-Methylcrotonyl-Coa Carboxylase Deficiency,Autosomal Recessive Disease,Mitochondrial Dna Depletion Syndrome 3,Bile Acid Synthesis Defect, Congenital, 1,Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To,Argininemia,Argininosuccinic Aciduria,Carnitine Deficiency, Systemic Primary

Macs Syndrome,Hepatocellular Carcinoma

High Grade Ependymoma,Pediatric Ependymoma,Clonorchiasis

Hypertension, Diastolic,Bacterial Pneumonia,Episodic Ataxia, Type 4,Attention Deficit-Hyperactivity Disorder

Retinitis Pigmentosa,Polyposis Syndrome, Hereditary Mixed, 1,Xeroderma Pigmentosum Group E,Hereditary Mixed Polyposis Syndrome,Xeroderma Pigmentosum, Complementation Group C,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group G,Xeroderma Pigmentosum, Complementation Group B,Ck Syndrome,Trichothiodystrophy 3, Photosensitive,Uv-Sensitive Syndrome,Bardet-Biedl Syndrome 1,Joubert Syndrome 1,Isolated Growth Hormone Deficiency, Type Ia

Bardet-Biedl Syndrome,Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1,Griscelli Syndrome, Type 3,Subvalvular Aortic Stenosis,Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome,Pancreatic Serous Cystic Neoplasm,Bardet-Biedl Syndrome 1

Chronic Tic Disorder,Alzheimer Disease 15

Citrullinemia, Classic,Urea Cycle Disorder,Charcot-Marie-Tooth Disease, Recessive Intermediate A,Complex Partial Epilepsy,Developmental And Epileptic Encephalopathy 39,Citrullinemia, Type Ii, Adult-Onset,Disease Of Mental Health,Asperger Syndrome,Early Infantile Epileptic Encephalopathy,Autism Spectrum Disorder,Charcot-Marie-Tooth Disease, Axonal, Type 2k,Autism

Myopathy,Congenital Nemaline Myopathy,Hypertrophic Cardiomyopathy,Breast Adenoid Cystic Carcinoma,Autosomal Dominant Macrothrombocytopenia,Dilated Cardiomyopathy,Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency,Focal Segmental Glomerulosclerosis,Bleeding Disorder, Platelet-Type, 15,Thrombocytopenia-Absent Radius Syndrome,Congenital Myasthenic Syndrome,Thrombocytopenia,Arrhythmogenic Right Ventricular Cardiomyopathy,Nonaka Myopathy,Myh-9 Related Disease

Hypertrophic Cardiomyopathy,Hereditary Stomatocytosis,Hereditary Spherocytosis,Ethmoid Sinus Adenocarcinoma,Lipodystrophy, Familial Partial, Type 5,Apical Myocardial Infarction,Overhydrated Hereditary Stomatocytosis

Cardiomyopathy, Familial Hypertrophic, 26,Cardiomyopathy, Dilated, 1e,Hypertrophic Cardiomyopathy,Familial Isolated Dilated Cardiomyopathy,Dilated Cardiomyopathy,Cardiomyopathy, Familial Hypertrophic, 13,Cardiomyopathy, Dilated, 1ee,Hemochromatosis, Type 2b,Restrictive Cardiomyopathy,Cardiomyopathy, Dilated, 1z,Cardiomyopathy, Familial Hypertrophic, 1,Left Ventricular Noncompaction

Meningococcal Meningitis,Deafness, Autosomal Recessive 84a,Chromosome 17q12 Deletion Syndrome