Liver Disease,Autosomal Dominant Polycystic Kidney Disease,Retinitis Pigmentosa,Polycystic Kidney Disease,Bardet-Biedl Syndrome,Multicystic Dysplastic Kidney,Primary Ciliary Dyskinesia,Hydrocele,End Stage Renal Disease,Chronic Kidney Disease,Nephronophthisis,Dilated Cardiomyopathy,Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease,Fundus Dystrophy,Cystic Kidney Disease,Kidney Disease,Nephronophthisis 2,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Polycystic Liver Disease 1 With Or Without Kidney Cysts,Prostatic Cyst,Cerebral Arterial Disease,Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a,Orthostatic Intolerance,Kartagener Syndrome,Visceral Heterotaxy,Joubert Syndrome 7,Asphyxiating Thoracic Dystrophy,Autosomal Genetic Disease,Polycystic Liver Disease,Caroli Disease,Meckel Syndrome, Type 1,Hypertension, Essential,Mucolipidosis Iv,Joubert Syndrome 1,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Type 1 Diabetes Mellitus 20,Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp,Migraine With Or Without Aura 1,Malignant Migrating Partial Seizures Of Infancy,Ohtahara Syndrome,Seizure Disorder,Childhood Absence Epilepsy,Epilepsy,Erythromelalgia,Splenic Sequestration,Episodic Ataxia,Hereditary Episodic Ataxia,Focal Epilepsy,Developmental And Epileptic Encephalopathy 14,Movement Disease,Epilepsy With Generalized Tonic-Clonic Seizures,Familial Febrile Seizures,Central Nervous System Origin Vertigo,Landau-Kleffner Syndrome,Reflex Epilepsy,Low-Grade Astrocytoma,Scn2a Related Disorders,Hemoglobin D Disease,Hemoglobin E Disease,Hemoglobin C Disease,Hemoglobinopathy,Scrapie,Familial Periodic Paralysis,Trigeminal Nerve Disease,Paroxysmal Extreme Pain Disorder,Paramyotonia Congenita Of Von Eulenburg,Febrile Seizures, Familial, 5,Early Myoclonic Encephalopathy,Non-Specific Syndromic Intellectual Disability,Febrile Seizures, Familial, 2,Congenital Hemolytic Anemia,Genetic Epilepsy With Febrile Seizures Plus,Hypokalemic Periodic Paralysis, Type 1,Hyperkalemic Periodic Paralysis,Encephalopathy,Febrile Seizures,Benign Neonatal Seizures,Migraine, Familial Hemiplegic, 3,Alacrima, Achalasia, And Mental Retardation Syndrome,Partial Motor Epilepsy,Benign Epilepsy With Centrotemporal Spikes,Benign Familial Neonatal Epilepsy,West Syndrome,Disease Of Mental Health,Febrile Seizures, Familial, 1,Chronic Wasting Disease,Developmental And Epileptic Encephalopathy 11,Alpha-Thalassemia,Hemoglobin H Disease,Brugada Syndrome,Lennox-Gastaut Syndrome,Coffin-Siris Syndrome 1,Neonatal Period Electroclinical Syndrome,Infancy Electroclinical Syndrome,Childhood Electroclinical Syndrome,Adolescence-Adult Electroclinical Syndrome,Early Onset Absence Epilepsy,Early Infantile Epileptic Encephalopathy,Kuru,Developmental And Epileptic Encephalopathy 13,Coffin-Siris Syndrome 4,Pervasive Developmental Disorder,Autism Spectrum Disorder,Dravet Syndrome,Benign Familial Infantile Epilepsy,Generalized Epilepsy With Febrile Seizures Plus,Episodic Ataxia, Type 9,Seizures, Benign Familial Infantile, 3,Photosensitive Epilepsy,Autosomal Dominant Non-Syndromic Intellectual Disability,Epilepsy, Myoclonic Juvenile,Autism,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,Epilepsy, Idiopathic Generalized

Liver Disease,Autosomal Dominant Polycystic Kidney Disease,Retinitis Pigmentosa,Polycystic Kidney Disease,Dysostosis,Bardet-Biedl Syndrome,Congenital Hepatic Fibrosis,Multicystic Dysplastic Kidney,Renal Dysplasia, Cystic,Primary Ciliary Dyskinesia,Thalassemia Minor,End Stage Renal Disease,Chronic Kidney Disease,Isolated Elevated Serum Creatine Phosphokinase Levels,Cystic Fibrosis,Nephronophthisis,Hemangioma,Deafness, Autosomal Recessive 77,Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease,Cystic Kidney Disease,Kidney Disease,Nephronophthisis 2,Tuberous Sclerosis,Renal Dysplasia,Intracranial Aneurysm,Alport Syndrome,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Polycystic Liver Disease 1 With Or Without Kidney Cysts,Cerebral Arterial Disease,Creatine Phosphokinase, Elevated Serum,Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a,Renovascular Hypertension,Orthostatic Intolerance,Kartagener Syndrome,Visceral Heterotaxy,Steatocystoma Multiplex,Autosomal Genetic Disease,Polycystic Liver Disease,Caroli Disease,Von Hippel-Lindau Syndrome,Meckel Syndrome, Type 1,Hypertension, Essential,Intracranial Berry Aneurysm,Acrofacial Dysostosis,Arthrogryposis, Renal Dysfunction, And Cholestasis 1,Marfan Syndrome,Nephronophthisis 1,Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis,Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease,Joubert Syndrome 1,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Nephrotic Syndrome,T Cell And Nk Cell Immunodeficiency,Progressive Familial Heart Block,End Stage Renal Disease,Hypertrophic Pyloric Stenosis,Pyloric Stenosis,Genetic Steroid-Resistant Nephrotic Syndrome,Glutamate-Cysteine Ligase Deficiency,Familial Episodic Pain Syndrome,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Familial Nephrotic Syndrome,Focal Segmental Glomerulosclerosis,Kidney Disease,Malignant Hypertension,Lipoid Nephrosis,Alport Syndrome,Focal Segmental Glomerulosclerosis 1,Pulmonary Hypertension,Focal Segmental Glomerulosclerosis 2,Hypothalamic Neoplasm,Diencephalic Neoplasm,Frasier Syndrome,Denys-Drash Syndrome,Hypertension, Essential,Membranous Nephropathy,Mucolipidosis Iv

Intracranial Hypertension,Hypertrophic Cardiomyopathy,Progressive Familial Heart Block,Familial Episodic Pain Syndrome,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Right Bundle Branch Block,Long Qt Syndrome,Heart Conduction Disease,Patent Foramen Ovale,Lateral Myocardial Infarction,Cardiac Conduction Defect,Myasthenic Syndrome, Congenital, 5,Congenital Myasthenic Syndrome,Progressive Familial Heart Block, Type Ib,Restrictive Cardiomyopathy,Arrhythmogenic Right Ventricular Cardiomyopathy,Brugada Syndrome,Erythrokeratodermia Variabilis Et Progressiva 1,Familial Atrial Fibrillation,Erythrokeratodermia Variabilis Et Progressiva 6,Short Qt Syndrome,Atrioventricular Block,Catecholaminergic Polymorphic Ventricular Tachycardia

Progressive Familial Heart Block

Agnosia,Autonomic Nervous System Disease,Autonomic Neuropathy,Migraine With Or Without Aura 1,Fibromyalgia,Epilepsy,Herpes Zoster Oticus,Erythromelalgia,Burning Mouth Syndrome,Diabetic Neuropathy,Somatoform Disorder,Familial Febrile Seizures,Sensory Peripheral Neuropathy,Familial Episodic Pain Syndrome,Neuropathy, Hereditary Sensory And Autonomic, Type Iib,Scn9a Neuropathic Pain Syndromes,Neuropathy,Progressive Familial Heart Block, Type Ia,Trigeminal Nerve Disease,Charcot-Marie-Tooth Disease,Paroxysmal Extreme Pain Disorder,Paramyotonia Congenita Of Von Eulenburg,Early Myoclonic Encephalopathy,Peripheral Nervous System Disease,Interstitial Cystitis,Genetic Epilepsy With Febrile Seizures Plus,Sodium Channelopathy-Related Small Fiber Neuropathy,Hyperkalemic Periodic Paralysis,Autonomic Dysfunction,Causalgia,Complex Regional Pain Syndrome,Febrile Seizures,Tooth Disease,Neurogenic Arthropathy,Migraine, Familial Hemiplegic, 3,Benign Epilepsy With Centrotemporal Spikes,Episodic Pain Syndrome, Familial, 2,Episodic Pain Syndrome, Familial, 3,Disease Of Mental Health,Febrile Seizures, Familial, 1,Generalized Epilepsy With Febrile Seizures Plus, Type 2,Generalized Epilepsy With Febrile Seizures Plus, Type 7,Scapuloperoneal Spinal Muscular Atrophy,Brugada Syndrome,Erythermalgia, Primary,Spondyloepiphyseal Dysplasia, Maroteaux Type,Spondylometaphyseal Dysplasia, Kozlowski Type,Hereditary Sensory Neuropathy,Lennox-Gastaut Syndrome,Indifference To Pain, Congenital, Autosomal Recessive,Neonatal Period Electroclinical Syndrome,Early Infantile Epileptic Encephalopathy,Trigeminal Neuralgia,Epilepsy, Familial Temporal Lobe, 5,Coffin-Siris Syndrome 4,Dravet Syndrome,Neuropathy, Hereditary Sensory And Autonomic, Type Iia,Pain Agnosia,Benign Familial Infantile Epilepsy,Generalized Epilepsy With Febrile Seizures Plus,Paine Syndrome,Epilepsy, Idiopathic Generalized

T Cell And Nk Cell Immunodeficiency,Immunodeficiency 10,Progressive Familial Heart Block,Familial Episodic Pain Syndrome,Cerebellar Ataxia Type 42,Cerebellar Ataxia Type 41,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Malignant Hypertension,Spinocerebellar Ataxia 14,Spinocerebellar Ataxia 41,Williams-Beuren Syndrome,Hereditary Ataxia,Hypertension, Essential,Mucolipidosis Iv

Metal Metabolism Disorder,Migraine With Or Without Aura 1,Myopathy,Periodic Paralyses,Erythromelalgia,Neuromuscular Junction Disease,Neuromuscular Disease,Myotonia, Potassium-Aggravated,Periodic Paralysis,Myotonic Disease,Hypokalemia,Myotonia Congenita,Episodic Ataxia,Muscular Dystrophy,Isolated Elevated Serum Creatine Phosphokinase Levels,Postsynaptic Congenital Myasthenic Syndromes,Sudden Infant Death Syndrome,Malignant Hyperthermia Susceptibility,Long Qt Syndrome,Malignant Hyperthermia,Heart Conduction Disease,Familial Periodic Paralysis,Thyrotoxic Periodic Paralysis,Graves Disease 1,Trigeminal Nerve Disease,Charcot-Marie-Tooth Disease,Paroxysmal Extreme Pain Disorder,Paramyotonia Congenita Of Von Eulenburg,Peripheral Nervous System Disease,Hypokalemic Periodic Paralysis, Type 2,Andersen Cardiodysrhythmic Periodic Paralysis,Hypokalemic Periodic Paralysis, Type 1,Hyperkalemic Periodic Paralysis,Normokalemic Periodic Paralysis,Myotonic Dystrophy 2,Myotonia,Migraine, Familial Hemiplegic, 3,Neuropathy, Hereditary Sensory And Autonomic, Type Vii,Long Qt Syndrome 3,Congenital Myasthenic Syndrome,Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency,Brugada Syndrome,Muscle Hypertrophy,Strabismus,Myasthenic Syndrome, Congenital, 16,Distal Arthrogryposis,Early Infantile Epileptic Encephalopathy,Trigeminal Neuralgia,Long Qt Syndrome 1,Joubert Syndrome 17,Dravet Syndrome,Generalized Epilepsy With Febrile Seizures Plus,Ptosis,Paine Syndrome,Fetal Akinesia Deformation Sequence 1,Maxillonasal Dysplasia, Binder Type,Epilepsy, Idiopathic Generalized

Mucolipidosis,Brachyolmia,Mucolipidosis Iv

Mucolipidosis,Yunis-Varon Syndrome,Niemann-Pick Disease,Deafness, Autosomal Recessive 63,Skin/Hair/Eye Pigmentation, Variation In, 10,Mucolipidosis Iv

Metatropic Dysplasia,Pseudohypoaldosteronism,Hypervitaminosis D,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Pendred Syndrome,Hyperparathyroidism,Bone Mineral Density Quantitative Trait Locus 15,Aromatase Deficiency,Prostate Cancer,Hyperparathyroidism, Transient Neonatal,Scapuloperoneal Spinal Muscular Atrophy,Hyperparathyroidism, Neonatal Severe,Spondyloepiphyseal Dysplasia, Maroteaux Type,Spondylometaphyseal Dysplasia, Kozlowski Type,Brachyolmia,Autosomal Recessive Disease,Estrogen-Receptor Negative Breast Cancer,Mucolipidosis Iv