Mitochondrial Encephalomyopathy,Muscular Disease,X-Linked Recessive Disease,Chromosomal Disease,Physical Disorder,Glucose Metabolism Disease,Retinitis Pigmentosa,Myopathy,Amino Acid Metabolic Disorder,Connective Tissue Disease,Disorder Of Sexual Development,Robinow Syndrome, Autosomal Recessive 1,Inherited Metabolic Disorder,Muscle Tissue Disease,Charcot-Marie-Tooth Disease, Dominant Intermediate C,Neuromuscular Disease,Mitochondrial Myopathy,Mitochondrial Metabolism Disease,Infantile Liver Failure Syndrome,Antisynthetase Syndrome,Amyotrophic Lateral Sclerosis 1,Combined Oxidative Phosphorylation Deficiency 12,Angelman Syndrome,Eye Degenerative Disease,Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome,Charcot-Marie-Tooth Disease, Axonal, Type 2d,Motor Neuron Disease,Subependymal Glioma,Benign Ependymoma,Autosomal Dominant Distal Hereditary Motor Neuronopathy,Epilepsy, Idiopathic Generalized 3,Congenital Nervous System Abnormality,Subependymal Giant Cell Astrocytoma,Cardiovascular System Disease,Auditory System Disease,Lung Disease,Acute Cystitis,Parasitic Protozoa Infectious Disease,Trichohepatoenteric Syndrome 1,Pleurisy,Immune System Disease,Nervous System Disease,Inner Ear Disease,Leukodystrophy,Eye Disease,Charcot-Marie-Tooth Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2n,Early Myoclonic Encephalopathy,Peripheral Nervous System Disease,Microcephaly,Dysphagia,Central Nervous System Disease,Cerebral Degeneration,46 Xx Gonadal Dysgenesis,West Syndrome,Disease Of Mental Health,Leukodystrophy, Hypomyelinating, 15,Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a,Respiratory System Disease,Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy,Integumentary System Disease,Polyomavirus-Associated Nephropathy,Disease By Infectious Agent,Deafness, Autosomal Recessive 89,Sensory System Disease,Usher Syndrome,Lennox-Gastaut Syndrome,Immune Deficiency Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2u,Neonatal Period Electroclinical Syndrome,Early Infantile Epileptic Encephalopathy,X-Linked Monogenic Disease,Autosomal Recessive Disease,Autosomal Genetic Disease,Perrault Syndrome,Hemorrhagic Cystitis,Pulmonary Disease, Chronic Obstructive,Usher Syndrome, Type Iiib,Epilepsy, Idiopathic Generalized 2,Specific Developmental Disorder,Pervasive Developmental Disorder,Acquired Metabolic Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Robinow Syndrome,Pontocerebellar Hypoplasia,Chromosome 16p11.2 Deletion Syndrome,Chromosomal Duplication Syndrome,Hypomyelinating Leukodystrophy,Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes,Thrombosis,Neuronopathy, Distal Hereditary Motor, Type Va

Spinal Muscular Atrophy With Lower Extremity Predominance,Spinal Muscular Atrophy, Infantile, James Type,Charcot-Marie-Tooth Disease, Type 4a,Charcot-Marie-Tooth Disease Type 5,Charcot-Marie-Tooth Disease, Demyelinating, Type 1c,Cerebral Angioma,Charcot-Marie-Tooth Disease, Dominant Intermediate C,Neuromuscular Disease,Polymyositis,Myositis,Axonal Neuropathy,Neuronopathy, Distal Hereditary Motor, Type Iib,Spinal Muscular Atrophy,Charcot-Marie-Tooth Disease, Axonal, Type 2d,Motor Neuron Disease,Muscular Atrophy,Charcot-Marie-Tooth Disease, Axonal, Type 2l,Spastic Paraplegia 17, Autosomal Dominant,Neuropathy, Hereditary, With Liability To Pressure Palsies,Distal Hereditary Motor Neuropathies,Autosomal Recessive Distal Hereditary Motor Neuronopathy,Autosomal Dominant Distal Hereditary Motor Neuronopathy,Distal Hereditary Motor Neuronopathy Type 2,Motor Peripheral Neuropathy,Bscl2-Related Neurologic Disorders/Seipinopathy,Gars1-Associated Axonal Neuropathy,Dermatomyositis,Neuropathy,Charcot-Marie-Tooth Disease,Charcot-Marie-Tooth Disease, Axonal, Type 2n,Peripheral Nervous System Disease,Thoracic Outlet Syndrome,Tooth Disease,Charcot-Marie-Tooth Disease, Demyelinating, Type 1b,Charcot-Marie-Tooth Disease And Deafness,Charcot-Marie-Tooth Disease, Recessive Intermediate B,Disease Of Mental Health,Brain Stem Infarction,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1,Charcot-Marie-Tooth Disease, Type 4b2,Scapuloperoneal Spinal Muscular Atrophy,Combined Oxidative Phosphorylation Deficiency 20,Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive,Charcot-Marie-Tooth Disease, Axonal, Type 2b2,Charcot-Marie-Tooth Disease Type X,Charcot-Marie-Tooth Disease Intermediate Type,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2,Glycine Encephalopathy,Hereditary Motor And Sensory Neuropathy, Type Iic,Charcot-Marie-Tooth Disease, Axonal, Type 2u,Developmental And Epileptic Encephalopathy 29,Charcot-Marie-Tooth Disease, Axonal, Type 2f,Charcot-Marie-Tooth Disease, X-Linked Dominant, 1,Perrault Syndrome,Hypertrophic Neuropathy Of Dejerine-Sottas,Charcot-Marie-Tooth Disease, Axonal, Type 2i,Charcot-Marie-Tooth Disease, Demyelinating, Type 1d,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Hyperekplexia,Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes,Neuronopathy, Distal Hereditary Motor, Type Va,Charcot-Marie-Tooth Disease, Axonal, Type 2b

Antisynthetase Syndrome,Polymyositis,Myositis,Chromosome 5p13 Duplication Syndrome,Trichothiodystrophy,Trichothiodystrophy 7, Nonphotosensitive

Psoriasis 11,Palmoplantar Keratoderma, Bothnian Type

Arteriovenous Malformations Of The Brain,Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2,Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 3,Microcephaly,Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures,Lynch Syndrome I,Epidemic Typhus,Perrault Syndrome,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Autosomal Recessive Non-Syndromic Intellectual Disability

Mitochondrial Dna Depletion Syndrome,Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1,Myopathy,Mitochondrial Myopathy,Mitochondrial Metabolism Disease,Conjugate Gaze Palsy,Chronic Progressive External Ophthalmoplegia,Mitochondrial Dna Depletion Syndrome 7,Ocular Motility Disease,Autosomal Dominant Progressive External Ophthalmoplegia,Mitochondrial Dna Maintenance Defects,Mitochondrial Disorders,Acute Liver Failure,Visual Cortex Disease,Premature Menopause,Visual Pathway Disease,Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4,Mitochondrial Dna Depletion Syndrome 4b,Lactic Acidosis,Mitochondrial Dna Depletion Syndrome 16,Metabolic Acidosis,Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis,Leber Hereditary Optic Neuropathy, Modifier Of,Mitochondrial Dna Depletion Syndrome 3,Mitochondrial Dna Depletion Syndrome 4a,Kearns-Sayre Syndrome,Leigh Syndrome,Mitochondrial Dna Depletion Syndrome 6,3-Methylglutaconic Aciduria, Type Iii

Charles Bonnet Syndrome,Retinitis Pigmentosa,Myopathy,Neuritis,Tremor,Antisynthetase Syndrome,Polymyositis,Low Compliance Bladder,Myositis,Pathologic Nystagmus,Usher Syndrome Type 2,Bagassosis,Oculomotor Apraxia,Sensorineural Hearing Loss,Acute Interstitial Pneumonia,Neuropathy,Charcot-Marie-Tooth Disease,Peripheral Nervous System Disease,Usher Syndrome, Type Iiia,Microcephaly,Tooth Disease,Childhood Type Dermatomyositis,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Aceruloplasminemia,Usher Syndrome,Perrault Syndrome,Vertical Talus, Congenital,Usher Syndrome, Type Iiib,Spastic Ataxia,Charcot-Marie-Tooth Disease, Axonal, Type 2w,Charcot-Marie-Tooth Disease, Axonal, Type 2e,Scoliosis,Ocular Motor Apraxia,Neuronopathy, Distal Hereditary Motor, Type Va