Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Vertigo, Benign Recurrent |
|
Gait imbalance |
OMIM:193007 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Alzheimer Disease 10 |
|
Memory impairment, Dementia |
OMIM:609636 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Schizophrenia |
|
Social and occupational deterioration |
OMIM:181500 |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Cognitive impairment |
OMIM:614934 |
Foix-Chavany-Marie Syndrome |
|
Maternal diabetes, Cognitive impairment |
ORPHA:2048 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance |
ORPHA:256 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Aspiration pneumonia, Pulmonary insufficiency, Maternal diabetes, Wheezing,... |
ORPHA:70588 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:168100 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachycardia, Hypotension, Tachypnea, Atelectasis, Respiratory failure, Pneumonia, Hypox... |
ORPHA:70587 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular failure, Abnormal respiratory system physiol... |
ORPHA:70589 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Postural tremor |
ORPHA:210571 |
Asbestos Intoxication |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vital capacity, Diffuse ... |
ORPHA:2302 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... |
ORPHA:45452 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia |
ORPHA:228169 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... |
ORPHA:99103 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:600116 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... |
ORPHA:101110 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Cognitive impairment |
OMIM:615989 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia |
OMIM:619052 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea |
OMIM:618317 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... |
OMIM:615294 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Bicuspid aortic valve, Decreased body weight, Pulmonic stenosis, Mitral regurg... |
OMIM:616201 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:605909 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Bradykinesia |
OMIM:609161 |
Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Bradykinesia, Limb ataxia, Babinski sign, Spastic paraplegia, Upper limb spasticity, Lower limb s... |
OMIM:618418 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Pulmonary infiltrates, Asthma, Decreased r... |
OMIM:610978 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Bradykinesia, Ankle clonus, Babinski sign, Rigidity, Frequent falls, Lower limb hypertonia, Spast... |
ORPHA:100984 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Spasticity, Apraxia, Slurred ... |
OMIM:300423 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
ORPHA:306692 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity |
OMIM:618824 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... |
ORPHA:60032 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:619279 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... |
OMIM:619048 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Abnormality of extrapyramidal ... |
OMIM:300894 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia |
OMIM:616277 |
Parkinson Disease 19A, Juvenile-Onset |
|
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Rigidity, Parkinsoni... |
OMIM:615528 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spasticity, Scissor gait |
ORPHA:521406 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Cyanosis, Neonatal death, Ground-glass opacification, Tach... |
OMIM:265120 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Parenchymal co... |
ORPHA:36238 |
Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Bradykinesia |
OMIM:618878 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Respiratory failure requiring assisted ventilation, Respiratory failure, C... |
ORPHA:132 |
Dystonia 12 |
|
Torticollis, Tremor, Bradykinesia, Parkinsonism |
OMIM:128235 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Parkinsonism, Spast... |
OMIM:617225 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia |
OMIM:615872 |
Huntington Disease |
|
Rigidity, Gait ataxia, Bradykinesia, Chorea |
OMIM:143100 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Gait ataxia, Postural tre... |
ORPHA:101150 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy, Bradycardia |
OMIM:617248 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis |
OMIM:261640 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... |
ORPHA:454887 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Respiratory distress, Apnea, Nodular pattern on pulmonary HRCT, Nonspecific... |
OMIM:610921 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification |
OMIM:619773 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Huntington Disease-Like 2 |
|
Rigidity, Action tremor, Bradykinesia, Chorea |
OMIM:606438 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Rhinorrhea, Bradycardia |
OMIM:167400 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... |
OMIM:606324 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... |
ORPHA:563 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Parkinsonism, Rigidity... |
OMIM:607136 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia |
ORPHA:71517 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:253300 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Parenchymal consolidation, Wheezing, Atelectasis, Abnormal... |
ORPHA:2902 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor |
OMIM:619862 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Cerebral ischemia, Syncope, Prolonged QTc interval, M... |
ORPHA:90065 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Diabetic ketoacidosis, Vasculitis, Hypotension, ... |
ORPHA:70578 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Tremor, Ataxia, Bradykinesia |
OMIM:617836 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Infantile Dystonia-Parkinsonism |
|
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... |
ORPHA:238455 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis |
OMIM:616726 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
ORPHA:240085 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity |
OMIM:617435 |
Dystonia 16 |
|
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Postural... |
OMIM:612067 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor |
ORPHA:329284 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Hypertonia, Limb hypertonia, Bradykinesia, Parkinsonism |
OMIM:617384 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... |
OMIM:619897 |
Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Gait ataxia |
ORPHA:248111 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Death in infancy, Bradycardia |
OMIM:616299 |
Leber Optic Atrophy And Dystonia |
|
Upper motor neuron dysfunction, Bradykinesia, Spasticity, Athetosis |
OMIM:500001 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Spastic paraparesis, Bradykinesia |
OMIM:615643 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... |
ORPHA:216694 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Bradykinesia, Rigidity, Parkinsonism, Spasticity, Apraxia |
OMIM:221820 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... |
OMIM:613135 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Chor... |
ORPHA:13 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... |
OMIM:603516 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... |
OMIM:300055 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Chronic sinusitis |
OMIM:300455 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... |
OMIM:183090 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor, Bradycardia |
OMIM:608800 |
Pneumocystosis |
|
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo... |
ORPHA:723 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... |
OMIM:115197 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Neonatal death, Bradycardia |
OMIM:610015 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:618815 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... |
OMIM:607060 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cystic pattern on pulmonary HRCT, Cyano... |
OMIM:610913 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia |
OMIM:619063 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Apnea, Death in infancy, Bradycardia |
OMIM:614498 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation, Hashimoto thyroiditis |
ORPHA:94125 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Clumsiness, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Postural tremor |
OMIM:619911 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... |
ORPHA:3348 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Bradykinesia, Hemiparesis, Parkinsonism |
ORPHA:306669 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Respiratory insufficiency, Bradycardia |
OMIM:614654 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... |
ORPHA:157941 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... |
ORPHA:724 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Bradykinesia |
ORPHA:412066 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Tachypnea, Shock, Pneumonia, Hypoxemia, Dyspnea, Dif... |
ORPHA:178320 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomical site, Abnorma... |
ORPHA:99750 |
Atypical Juvenile Parkinsonism |
|
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... |
ORPHA:391411 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... |
OMIM:618877 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... |
OMIM:601005 |
Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... |
OMIM:300623 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Episod... |
OMIM:601338 |
Multiple System Atrophy |
|
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... |
ORPHA:102 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic transaminase, Vent... |
OMIM:212138 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:95717 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... |
ORPHA:99931 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Atelectasis, Right bundle branch block |
ORPHA:254361 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Chorea, Tremor, Chore... |
OMIM:606159 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... |
OMIM:615745 |
Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... |
ORPHA:454836 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Machado-Joseph Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Tr... |
OMIM:109150 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Ta... |
ORPHA:264675 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... |
OMIM:614299 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... |
OMIM:613280 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... |
ORPHA:289560 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Congestive heart failure |
OMIM:616794 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated... |
ORPHA:226313 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
Gitelman Syndrome |
|
Respiratory distress, Graves disease, Abnormal T-wave, ST segment depression, Type II diabetes me... |
ORPHA:358 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... |
ORPHA:75249 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Multiple System Atrophy, Parkinsonian Type |
|
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... |
ORPHA:98933 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic d... |
ORPHA:57777 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:254886 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasciculations, Chore... |
ORPHA:98755 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor |
ORPHA:70594 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination |
ORPHA:36387 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormality of circulating catecholamine level, Syncope |
ORPHA:441 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy |
OMIM:619386 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Multiple System Atrophy, Cerebellar Type |
|
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Limb ataxia, Abnormal pyramidal sign... |
ORPHA:227510 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
Dravet Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cog... |
ORPHA:33069 |
Huntington Disease |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Myoclonus, Babinski sign, Rigidity, Chore... |
ORPHA:399 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Arrhythmia, Dilated cardiomyopathy, Dyspnea, Respiratory failure,... |
ORPHA:352447 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opaci... |
ORPHA:2032 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Diffuse reticular or finel... |
ORPHA:79127 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... |
OMIM:613838 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure |
ORPHA:871 |
Muscular Dystrophy, Duchenne Type |
|
Arrhythmia, Obstructive sleep apnea, Dilated cardiomyopathy, Abnormal EKG, Restrictive ventilator... |
OMIM:310200 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Waisman Syndrome |
|
Cogwheel rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:311510 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Respiratory insufficiency, Death in early adulthood, Dilated cardiomyopathy... |
OMIM:255160 |
Scedosporiosis |
|
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pneumonia, Diabetes mellitus, Abnorm... |
ORPHA:449280 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Abnormally loud pulmonic compone... |
OMIM:265450 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Hypothyroidism, Gait at... |
ORPHA:98808 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Neonatal death, Respiratory insufficiency due to muscle weakness, De... |
OMIM:617184 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, Arrhythmia, Diabetes mellitus, Hypogonadism, Cardiomyopathy, Br... |
OMIM:609286 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... |
ORPHA:99105 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Apnea, Bradycardia |
OMIM:619814 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Bradykinesia |
OMIM:614924 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Paroxysmal dyspnea, Stridor, Severely reduced left vent... |
ORPHA:444013 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Tricuspid regurgi... |
ORPHA:1677 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
Hypermanganesemia With Dystonia 2 |
|
Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spasti... |
OMIM:617013 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... |
ORPHA:91359 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension, Pulmonary infiltrat... |
ORPHA:90060 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240071 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... |
ORPHA:225147 |
Rett Syndrome |
|
Motor stereotypy, Bradykinesia, Increased serum leptin, Stereotypical hand wringing, Limb apraxia |
ORPHA:778 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Chronic pulmonary obstruction, Left ventricular outf... |
ORPHA:439232 |
Loeffler Endocarditis |
|
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Truncal ataxia, Atrioventricular block, Bradycardia |
OMIM:614407 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejection fraction, Pleu... |
ORPHA:542323 |
Snakebite Envenomation |
|
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... |
ORPHA:449285 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Episodic hypertension, Respiratory failure |
OMIM:619483 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:234810 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pulmonary infiltrates |
OMIM:178550 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... |
OMIM:619611 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia |
ORPHA:171442 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacification, Pneumo... |
ORPHA:1302 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Frontotemporal dementia, Memory impairment, Dementia |
OMIM:619132 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Respiratory insufficiency, Neonatal death, Tracheomalacia |
OMIM:245650 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Cholelithiasis, Small for gestational age, Ventricular septal defec... |
OMIM:618775 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypocapnia, Crackles, Hypotensio... |
ORPHA:466650 |
Bronchogenic Cyst |
|
Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea |
ORPHA:2357 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Atelectasis, Chronic sinusitis, Productive cough,... |
ORPHA:244 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Arrhythmia, Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart ... |
ORPHA:1194 |
Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Tachycardia, Cough, Abnormal pulmonary thoracic imag... |
ORPHA:3392 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor |
OMIM:615530 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Bradykinesia, Limb ataxia, Intention tremor, Babinski sign, Parkinsonism, Truncal ataxia, Rigidit... |
OMIM:258450 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Slowed slurred speech, Bradykinesia |
OMIM:619827 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Bradykinesia, Limb ataxia, Rigidity, Spastic dysarthria, Gait ataxia, Spasticity |
ORPHA:98760 |
Parkinsonian-Pyramidal Syndrome |
|
Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... |
ORPHA:171695 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hyperinsulinemia, Respiratory failure |
ORPHA:363400 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Postencephalitic Parkinsonism |
|
Bradykinesia, Resting tremor, Tremor by anatomical site, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:97349 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:276950 |
Manganese Poisoning |
|
Hypertonia, Bradykinesia, Cogwheel rigidity, Postural tremor, Abnormality of extrapyramidal motor... |
ORPHA:306682 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... |
ORPHA:217607 |
Childhood-Onset Nemaline Myopathy |
|
Clumsiness, Bradykinesia |
ORPHA:171439 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Ankle clonus, Pill-rolling tremor, Parkins... |
OMIM:612953 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Gait ataxia |
ORPHA:98768 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Arrhythmia, Atelectasis, Reduced left ventricular ejection fraction, A... |
ORPHA:258 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Hypotension, Shock, Bradycardia, Abnormal heart morphology |
ORPHA:391673 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... |
OMIM:310300 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure, ... |
ORPHA:70472 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... |
ORPHA:133 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Impaired sensitivity... |
ORPHA:90673 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia... |
OMIM:157640 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Nonproduc... |
ORPHA:60025 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Secundum atrial septal defect, Cerebral hemorrhage, Elevated hepatic transaminase, ... |
OMIM:617397 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Primary Progressive Freezing Gait |
|
Bradykinesia, Babinski sign, Rigidity, Frequent falls, Clonus, Postural tremor |
ORPHA:75567 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upper motor neuron dysf... |
ORPHA:466722 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276580 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... |
ORPHA:70 |
Illum Syndrome |
|
Apnea, Bradycardia |
OMIM:208155 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Endocardial fibro... |
OMIM:619313 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea |
ORPHA:168486 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:370968 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pulmonary infiltrates, Pneumothorax, Restrictive ventilatory defect, Emphysema, H... |
OMIM:612387 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
Aspergillosis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Diffuse reticular or fin... |
ORPHA:1163 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:168600 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Neuroferritinopathy |
|
Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, Involuntary mov... |
ORPHA:157846 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Tachycardia, Recurrent pneumonia, Atrial fibrillation, Prolonged QT interval, B... |
OMIM:613327 |
Perry Syndrome |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:168605 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neo... |
ORPHA:217563 |
Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Pulmonary infiltrates, Vasculitis, Cough |
ORPHA:375 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Nonproductive cough, Cyanosis, Tachycardia, Orthopnea, Reduced left ventri... |
ORPHA:980 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Death in infancy, Aspiration, Bradycardia |
OMIM:610768 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinski sign, Chorea,... |
OMIM:610217 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Decreased circulating renin level, Neoplasm of the adrenal gland, Increased circ... |
ORPHA:231625 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory... |
OMIM:609981 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Left ventricular outflow tract obstruction, Respiratory insuff... |
ORPHA:365 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Hemothorax, Right ventricular failure, Cyanosis, Elevated pulmona... |
ORPHA:199241 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... |
OMIM:612124 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... |
ORPHA:330021 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Crackles, Hypotension, Myocarditis, Shock, Atelectasis... |
ORPHA:319213 |
Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism |
OMIM:168601 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Adult-Onset Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... |
ORPHA:199351 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycardia |
ORPHA:40366 |
Acquired Methemoglobinemia |
|
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea |
ORPHA:464453 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Bronchiectasis, ... |
OMIM:244400 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bradykinesia, Dysmetria, Intention tremor, Parkinsonism, Rigidity, Hypothyroidism, Gait a... |
ORPHA:93256 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Mat... |
ORPHA:324575 |
Zygomycosis |
|
Melena, Pulmonary infiltrates, Sinusitis, Hematemesis, Air crescent sign, Myocarditis, Hematochez... |
ORPHA:73263 |
Sepsis In Premature Infants |
|
Cyanosis, Tachycardia, Abnormal respiratory system physiology, Hypotension, Abnormal mucociliary ... |
ORPHA:90051 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Left ventricular outflow tract obstruction, Respiratory insufficiency, Hear... |
ORPHA:308552 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... |
OMIM:614370 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse pancreatic is... |
ORPHA:276556 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus |
OMIM:613845 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Pulmonary infiltrates |
OMIM:607685 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypertonia, Ataxia, Bradykinesia, Hyperthyroidism, Resting tremor, Rigidity, Hypothyroidism, Trem... |
ORPHA:254892 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Apnea, Tachycardia, Retinal hemorrhage, Aspiration, Neonatal respiratory distress, Hypertension, ... |
OMIM:614653 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... |
ORPHA:90674 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Mitral regurgitation, Respiratory insufficiency, Arr... |
ORPHA:746 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Tremor, Rigidity, Bradykinesia |
ORPHA:683 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parkinsonism, Rigidi... |
OMIM:234200 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Bradykinesia, Babinski sign, Rigidity, Parkinsonism, Tremor |
OMIM:146500 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Hypercapnia, Respiratory failure |
OMIM:267480 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Farber Disease |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... |
ORPHA:333 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... |
OMIM:616028 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Bradycardia |
OMIM:220120 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death |
OMIM:601612 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Glossopharyngeal Neuralgia |
|
Syncope, Dysesthesia, Jaw claudication, Weight loss, Bradycardia |
ORPHA:221098 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
Alzheimer Disease 4 |
|
Dementia, Memory impairment, Cognitive impairment |
OMIM:606889 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG, Dyspnea, R... |
ORPHA:230 |
Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Nonproductive cough, Arrhythmia, Pulmonary interstitial high-r... |
ORPHA:85443 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG |
ORPHA:1177 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Prolonged QT interval |
ORPHA:94090 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Raynaud phenomenon, Crackles, Parenchymal consolidation, Ground-gl... |
ORPHA:79128 |
Hereditary Late-Onset Parkinson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... |
ORPHA:411602 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chylothorax, Cough, Pneumothorax, Atelectasis, Restrictive ventilatory def... |
ORPHA:538 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
Alg1-Cdg |
|
Respiratory failure, Cardiomyopathy |
ORPHA:79327 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... |
ORPHA:226307 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Respiratory failure, Congestive he... |
OMIM:609015 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:618233 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Bradykinesia |
ORPHA:2828 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Jaundice, Small for gestational age, Tachycardia, Arrhythmia,... |
ORPHA:26793 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Respiratory insufficiency, Respiratory failure, Hypertension |
OMIM:602088 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure |
OMIM:618278 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... |
OMIM:615512 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus |
OMIM:126320 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Cough |
ORPHA:2314 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor, Tachypnea |
OMIM:604320 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... |
ORPHA:70591 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... |
OMIM:613873 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Di... |
ORPHA:70474 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Death in infancy, Neonatal ... |
OMIM:608836 |
Nephronophthisis-Like Nephropathy 2 |
|