Genes?

Curated: Sideroblastic anemia with b-cell immunodeficiency, Intellectual developmental disorder, Optic atrophy, Retinitis pigmentosa, Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia

Unreviewed: Anemia, Atrophy, Breast neoplasm, Cardiomyopathy, Cataract, Colorectal neoplasm, Common variable immunodeficiency, Developmental Delay, Developmental disability, Diabetes mellitus, Elliptocytosis, Epilepsy, Epiretinal Membrane, Fanconi syndrome, Hearing loss, Hemolytic anemia, Hyperbilirubinemia, Immune system disease, Iron Overload, Lactic acidosis, Lymphopenia, Metabolic Diseases, Metabolic syndrome, Mitochondrial disease, Mitochondrial encephalopathy, Multiple myeloma, Myopia, Nyctalopia, Psychiatric disorders, Retinal Dystrophy, Retinitis Pigmentosa, Retinitis Pigmentosa And Erythrocytic Microcytosis, Seizures, Sideroblastic Anemia, Thrombocytosis

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: Brain disease, Cardiomyopathy, Central Visual Impairment, Congestive Heart Failure, Cytochrome c oxidase deficiency, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Growth disorder, Hearing Loss, Hemianopsia, Hypertension, Hypertrophic cardiomyopathy, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Metabolic Diseases, Metabolic syndrome, Migraine, Mitochondrial myopathy, Myoclonic Seizures, Myopathy, Nystagmus, Optic Atrophy, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stroke, Visceral neuropathy, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: N/A

Unreviewed: Brain disease, Cardiomyopathy, Central Visual Impairment, Congestive Heart Failure, Cytochrome c oxidase deficiency, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Growth disorder, Hearing Loss, Hemianopsia, Hypertension, Hypertrophic cardiomyopathy, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Metabolic Diseases, Metabolic syndrome, Migraine, Mitochondrial myopathy, Myoclonic Seizures, Myopathy, Nystagmus, Optic Atrophy, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stroke, Visceral neuropathy, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: N/A

Unreviewed: Brain disease, Cardiomyopathy, Central Visual Impairment, Congestive Heart Failure, Cytochrome c oxidase deficiency, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Growth disorder, Hearing Loss, Hemianopsia, Hypertension, Hypertrophic cardiomyopathy, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Metabolic Diseases, Metabolic syndrome, Migraine, Mitochondrial myopathy, Myoclonic Seizures, Myopathy, Nystagmus, Optic Atrophy, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stroke, Visceral neuropathy, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: N/A

Unreviewed: Addison`s Disease, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention Deficit Hyperactivity Disorder, Autism, Brain disease, Cardiomyopathy, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Congestive Heart Failure, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Gastroparesis, Hallucinations, Hearing Loss, Heart Block, Hematomas, Hemianopsia, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired Cognition, Intestinal Obstruction, Lactic acidosis, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Luft Disease, Macroglossia, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, Megaconial Myopathies, MELAS Syndrome, Mental Depression, Microcephaly, Migraine, Mitochondrial disease, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial encephalopathy, Mitochondrial myopathy, Motor delay, Multiple Lipomata, Myoclonic Seizures, Myopathy, Nephrotic Syndrome, Nyctalopia, Nystagmus, Optic Atrophy, Pancreatitis, Pleoconial myopathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stroke, Thyroiditis, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: N/A

Unreviewed: Addison`s Disease, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention Deficit Hyperactivity Disorder, Autism, Brain disease, Cardiomyopathy, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Congestive Heart Failure, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Gastroparesis, Hallucinations, Hearing Loss, Heart Block, Hematomas, Hemianopsia, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired Cognition, Intestinal Obstruction, Lactic acidosis, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Luft Disease, Macroglossia, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, Megaconial Myopathies, MELAS Syndrome, Mental Depression, Microcephaly, Migraine, Mitochondrial disease, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial encephalopathy, Mitochondrial myopathy, Motor delay, Multiple Lipomata, Myoclonic Seizures, Myopathy, Nephrotic Syndrome, Nyctalopia, Nystagmus, Optic Atrophy, Pancreatitis, Pleoconial myopathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stroke, Thyroiditis, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: N/A

Unreviewed: Addison`s Disease, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Attention Deficit Hyperactivity Disorder, Autism, Brain disease, Cardiomyopathy, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Congestive Heart Failure, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Gastroparesis, Hallucinations, Hearing Loss, Heart Block, Hematomas, Hemianopsia, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired Cognition, Intestinal Obstruction, Lactic acidosis, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Luft Disease, Macroglossia, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, Megaconial Myopathies, MELAS Syndrome, Mental Depression, Microcephaly, Migraine, Mitochondrial disease, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial encephalopathy, Mitochondrial myopathy, Motor delay, Multiple Lipomata, Myoclonic Seizures, Myopathy, Nephrotic Syndrome, Nyctalopia, Nystagmus, Optic Atrophy, Pancreatitis, Pleoconial myopathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stroke, Thyroiditis, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: N/A

Unreviewed: Aicardi goutieres syndrome, Ataxia, Kearns Sayre Syndrome, Mitochondrial disease, Myasthenic syndrome, Seizures