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

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