Gene Summary

Name:
tyrosine hydroxylase
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Them1(IMPC)H HOM   Early adult 0.00
abnormal gait Them1(IMPC)H HET Early adult 4.76×10-07

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Th mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Th by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Th by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Schizophrenia 19
Cognitive impairment OMIM:617629
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in childhood, Bradycardia, Respiratory ... OMIM:620265
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Hypoxemia, R... ORPHA:70587
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Pulmo... ORPHA:70588
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Dystonia 16
Bradykinesia, Torticollis, Parkinsonism, Abnormal pyramidal sign, Postural tremor ORPHA:210571
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Resting tremor, Incoordination, Spasticity, Parkinsonis... OMIM:128230
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D... OMIM:616201
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity ORPHA:228169
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:605909
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia, Lethargy OMIM:618683
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis, Bradykinesia OMIM:619052
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Babinski sign, Bradykinesia, Lower limb spasticity, Frequent falls, Lower limb hype... ORPHA:100984
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Acute Interstitial Pneumonia
Ground-glass opacification, Cyanosis, Atelectasis, Peribronchovascular interstitial thickening, H... ORPHA:79126
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:616710
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Rigidity, Parkinsonism, Abnormal ... OMIM:615528
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Spastic paraplegia, Upper limb s... OMIM:618418
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Elevated circulating thyroid-stimulating hormone concentration, Decre... OMIM:610978
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Babinski sign, Hypertonia, Limb ataxia, Rigidity, Parkinsonism OMIM:618824
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Parkinsonism, Limb dysmetr... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Spasticity, Action tremor, Rigidity, Parkinsonism, Slurred ... OMIM:300423
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Parkinsonism, Rigidity ORPHA:306692
Dystonia 12
Bradykinesia, Parkinsonism, Tremor, Torticollis OMIM:128235
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr... ORPHA:45452
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Pulmonary arterial hypertens... OMIM:265120
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Pulmonary sequestrati... ORPHA:70589
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Parkinsonism, Ankle clonus ORPHA:521406
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bl... OMIM:606324
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Ataxia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurred speech OMIM:618317
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin... OMIM:619048
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ... OMIM:610921
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Parkinsonis... OMIM:617225
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Huntington Disease
Bradykinesia, Chorea, Rigidity, Gait ataxia OMIM:143100
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Gait ataxia, Parkinsonism ORPHA:71517
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... ORPHA:132
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,... ORPHA:101150
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Immunodeficiency 95
Ground-glass opacification, Recurrent viral upper respiratory tract infections, Recurrent viral p... OMIM:619773
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis OMIM:615294
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Ple... OMIM:261740
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Gait ataxia, Intention tremor, Rigidity, Ataxia, Park... OMIM:607136
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory insufficiency d... OMIM:601419
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo... ORPHA:97355
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Elevated jugular venous pressure, L... ORPHA:97292
Infantile Dystonia-Parkinsonism
Bradykinesia, Hypertonia, Limb hypertonia, Chorea, Cerebral palsy, Parkinsonism, Abnormal pyramid... ORPHA:238455
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cerebellar Ataxia, Cayman Type
Bradykinesia, Truncal ataxia, Intention tremor, Gait ataxia, Ataxia OMIM:601238
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pleural effusion, A... ORPHA:60041
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Gait ataxia, Limb myoclonus, Postural tremor OMIM:619862
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia OMIM:617384
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Rigidity, Tremor, Ataxia OMIM:617836
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra... ORPHA:90065
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis ORPHA:329284
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Hemiparesis, Tremor, Parkinsonism ORPHA:306669
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication ORPHA:240085
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Huntington Disease-Like 2
Action tremor, Chorea, Rigidity, Bradykinesia OMIM:606438
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Chorea, Gait ataxia, Rigidity, Ataxia, Myoclonus ORPHA:248111
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Diabetic ketoacidosis, Abnormal blood gas level, Vasculitis, Hypotension, Hypoxe... ORPHA:70578
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618235
Leber Optic Atrophy And Dystonia
Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction OMIM:500001
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Spasticity, Rigidity, Parkinsonism OMIM:221820
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Palpitations, Adrenal pheochromocytoma, Hypertension associated with pheochromocyto... OMIM:605373
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Parkinsonism, Choreoathetosis OMIM:261640
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa... OMIM:613135
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Dystonia 16
Bradykinesia, Retrocollis, Involuntary movements, Abnormal pyramidal sign, Parkinsonism, Postural... OMIM:612067
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Surfactant Metabolism Dysfunction, Pulmonary, 2
Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, N... OMIM:610913
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Spastic paraparesis, Rigidity, Bradykinesia OMIM:615643
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hyper... OMIM:168000
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Abn... OMIM:603516
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Decreased circulatin... ORPHA:95717
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy, Death in infancy OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Neonatal death, Recurrent respiratory infections, Bradycardia OMIM:610015
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Abnormality of extrapyramidal motor function, C... ORPHA:13
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Clumsiness, Postural tremor OMIM:619911
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Male hypogonadism, Apraxia, Resting tremor, Tremor, Sp... OMIM:300055
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Ataxia, Parkinsonism, ... OMIM:619725
Recessive Mitochondrial Ataxia Syndrome
Hashimoto thyroiditis, ST segment elevation ORPHA:94125
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign OMIM:617435
Paroxysmal Extreme Pain Disorder
Impaired pain sensation, Tachycardia, Bradycardia OMIM:167400
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Gait ataxia, Acti... OMIM:300623
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul... ORPHA:563
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Huntington Disease-Like 1
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ... ORPHA:157941
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred speech, Rigidity... ORPHA:391411
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory insufficiency, Abnormal lung morphology, Recurrent pneumonia, Recurrent ... ORPHA:60032
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... ORPHA:102
Timothy Syndrome
Prolonged QT interval, Bradycardia, Bronchitis, Pulmonary arterial hypertension, Hypothyroidism, ... OMIM:601005
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ... ORPHA:53351
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co... OMIM:311510
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity, Ataxia, Parkins... OMIM:606159
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Tremor, Cerebral palsy, Rigidity ORPHA:70594
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Failure to thrive, Cardiomegaly, ... OMIM:614702
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Frequent falls, Rigidity, Parkinsonism, Spastic parapare... ORPHA:289560
Pneumocystosis
Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf... ORPHA:723
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait ataxia, Rigidit... ORPHA:98933
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Nathalie Syndrome
Abnormal EKG OMIM:255990
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertro... ORPHA:75249
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... ORPHA:95716
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Truncal ataxia, Incoordination, Episodic ataxia, Gait ataxia, Hemiparesis, Ataxia, ... OMIM:601338
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Hypermanganesemia With Dystonia 1
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... OMIM:613280
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Ventricular h... OMIM:212138
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Death in infancy OMIM:616299
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Resting tremor, Frequent falls, Gait at... ORPHA:227510
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Dravet Syndrome
Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig... ORPHA:33069
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infections, Respiratory failure... OMIM:263000
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Cogwheel rigidity,... ORPHA:254886
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
C1Q Deficiency 2
Bronchiectasis, Vasculitis in the skin, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Cardiomyopathy, Portal hypertension, Failure to thrive, Hepatosplenomegal... OMIM:232500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e... ORPHA:2902
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Pure Autonomic Failure
Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension ORPHA:441
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Adrenal insufficiency, Hypertrophic cardiomyopathy, Death in infancy OMIM:619386
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R... OMIM:619424
Huntington Disease
Bradykinesia, Babinski sign, Chorea, Poor fine motor coordination, Involuntary movements, Clonus,... ORPHA:399
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Lower limb spasticity, Oromotor apraxia, Spasticity, Paraparesis, Ataxia, Myoclonus... OMIM:617854
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Diffuse alveolar hemorrhage, Pneumonia, Re... ORPHA:178320
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis OMIM:300894
Hyperthyroidism, Familial Gestational
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:603373
Spinocerebellar Ataxia Type 1
Bradykinesia, Progressive cerebellar ataxia, Fasciculations, Chorea, Dysdiadochokinesis, Postural... ORPHA:98755
Autosomal Dominant Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Torticollis, Abnormality of extrapyramidal motor function, Gait atax... ORPHA:98808
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Bradycardia OMIM:614654
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Tracheobronchopathia Osteochondroplastica
Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent res... ORPHA:3348
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Gitelman Syndrome
Delayed puberty, Maternal diabetes, Prolonged QT interval, Prominent U wave, Syncope, Low-to-norm... ORPHA:358
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... ORPHA:226313
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes... OMIM:609286
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Idiopathic Pulmonary Hemosiderosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hea... ORPHA:99931
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Death in infancy OMIM:300219
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Apical pulmonary opacity, Pericarditis, Pulmonary fibrosi... ORPHA:449280
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural... ORPHA:542323
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Scissor gait, Spasticity, Tremor, Lower limb hypertonia, Opisthotonu... OMIM:617013
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Scorpion Envenomation
Myocarditis, Pulmonary edema, Congestive heart failure, Prominent U wave, Hypertension, Premature... ORPHA:466677
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... ORPHA:225147
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response ... ORPHA:240071
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weakness, Arrhythmia, Res... ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Death in middle age, Left ventricular outflow tract obstruction, Right ... OMIM:613251
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Truncal ataxia, Failure to thrive, Bradycardia OMIM:614407
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Death in early adulthood, Respiratory insufficiency... OMIM:255160
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc... ORPHA:254875
Snakebite Envenomation
Tachycardia, Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhag... ORPHA:449285
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Respiratory t... ORPHA:244
Avian Influenza
Ground-glass opacification, Pneumothorax, Congestive heart failure, Miscarriage, Pleural effusion... ORPHA:454836
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Resting tremor, Tremor by anatomical site, Cogwheel rigidity, Involu... ORPHA:97349
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, R... OMIM:608647
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Abnormal pleura morp... ORPHA:2357
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Spasticity, Gait ataxia, Rigidity, Ataxia ORPHA:98760
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Parkinsonism, Myoclonus, Abn... ORPHA:171695
Immunodeficiency 54
Adrenocorticotropic hormone excess, Respiratory insufficiency, Respiratory failure, Recurrent res... OMIM:609981
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Babinski sign, Limb ataxia, Truncal ataxia, Intention tremor, Gait ataxia, Rigidity... OMIM:258450
Cardiomyopathy, Dilated, 2H
Neonatal death, Cardiorespiratory arrest, Reduced left ventricular ejection fraction OMIM:620203
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure OMIM:614399
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr... OMIM:612953
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Manganese Poisoning
Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Postur... ORPHA:306682
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Torticollis, Titubation, Gait ataxia, Myoclonus, Clumsiness ORPHA:98768
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy, Arrhythmia, Respiratory ... ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal r... OMIM:619003
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Pericardi... OMIM:618775
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m... ORPHA:860
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Pseudo-Torch Syndrome 2
Bradycardia, Respiratory insufficiency, Pleural effusion, Acute respiratory distress syndrome, Ce... OMIM:617397
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia ORPHA:171439
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, ... ORPHA:2032
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Respiratory insufficiency due to muscle weakness, Arrhy... OMIM:310200
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia, Hypertension ORPHA:363400
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Death in infancy OMIM:614498
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Intention tremor, Myoclonus, We... ORPHA:466722
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Frequent falls, Clonus, Rigidity, Postural tremor ORPHA:75567
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa... OMIM:310300
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis ORPHA:896
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypoplasia of the thymus, Right atrial enlargement, Pericardial effus... OMIM:619313
Congenital Myopathy 22A, Classic
Respiratory insufficiency, Neonatal death, Tricuspid regurgitation, Bradycardia OMIM:620351
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Pleural thickening, Subpleural interstitial thickening,... ORPHA:60025
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:157640
Perry Syndrome
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:168605
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Cardiomyopathy, Death in infancy, Neonatal death, Respiratory fai... OMIM:614922
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Neonatal death, Res... OMIM:605711
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Lipoid pneumonia, Hypertrophic cardiomyopathy OMIM:620326
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Reduced left ventricular ejection frac... ORPHA:258
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616867
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:168600
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Recurrent pneumonia, T... OMIM:613327
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Neuroferritinopathy
Bradykinesia, Babinski sign, Resting tremor, Chorea, Blepharospasm, Involuntary movements, Parkin... ORPHA:157846
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Hyperekplexia 4
Respiratory failure OMIM:618011
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Proximal Spinal Muscular Atrophy
Bradycardia, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Re... ORPHA:70
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy, Respiratory failure, Di... OMIM:614299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycardia, Syncope, Hyper... ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia, Palpitations, Tachycar... ORPHA:276580
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Gait ataxia, Int... OMIM:610217
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Left ventricular o... ORPHA:308552
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo... OMIM:620233
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Crazy paving patt... ORPHA:264675
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:70472
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Necrotizing Enterocolitis
Bradycardia, Hypotension, Abnormal heart morphology, Peritonitis, Small for gestational age, Shock ORPHA:391673
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Vasculitis in the skin, Respiratory failure, Interstitial pneumonitis, Recurrent upper respirator... OMIM:620296
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Nephronophthisis 2
Pulmonary insufficiency, Respiratory insufficiency, Hypertension, Pulmonary hypoplasia, Respirato... OMIM:602088
Fragile X-Associated Tremor/Ataxia Syndrome
Bradykinesia, Intention tremor, Gait ataxia, Hypothyroidism, Rigidity, Ataxia, Parkinsonism, Dysm... ORPHA:93256
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... ORPHA:466650
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Diffuse reti... ORPHA:79127
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Involuntary movements, Rigidity, Parkinsonism, Eyelid apraxia OMIM:615530
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Neoplasm of the adrenal gland, Decreased circulating renin level, Hypertension, Glucocortocoid-in... ORPHA:231625
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension OMIM:619483
Sheehan Syndrome
Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,... ORPHA:91355
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Myoclonus OMIM:168601
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Rett Syndrome
Increased serum leptin, Limb apraxia, Bradykinesia ORPHA:778
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Cardiorespiratory arrest, Bradycardia OMIM:608800
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Increased pit... ORPHA:90674
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Hypotension, Tachycardia, Respiratory failure ORPHA:330021
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Tremor, F... ORPHA:254892
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Rigidity, Ataxia, Parkinsonism OMIM:146500
Absence Of The Pulmonary Artery
Pulmonary edema, Abnormal pulmonary thoracic imaging finding, Atrial flutter, Congestive heart fa... ORPHA:980
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia OMIM:610768
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Death in childhood, Type I diabetes mellitus, Sinus bradycardia OMIM:618397
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal pulmonary interstitial m... ORPHA:209905
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Hypoparathyroidism, Respiratory insufficiency, Cardiomyopathy, Tricuspi... ORPHA:746
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Left ventricular outflow tract obstruction, Vasculitis, T... ORPHA:365
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Farber Disease
Atelectasis, Respiratory insufficiency, Diffuse reticular or finely nodular infiltrations, Recurr... ORPHA:333
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress ORPHA:168486
Alg1-Cdg
Respiratory failure, Cardiomyopathy ORPHA:79327
Glossopharyngeal Neuralgia
Bradycardia, Dysesthesia, Jaw claudication, Weight loss, Syncope ORPHA:221098
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Death in infancy, Respiratory arrest, Neonatal death, Respiratory failure OMIM:617248
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Adrenal hypoplasia, Hypoplasia of the thymus, Death i... OMIM:613177
Zygomycosis
Pneumothorax, Hematemesis, Gastrointestinal hemorrhage, Myocarditis, Atelectasis, Melena, Acute i... ORPHA:73263
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock ORPHA:319213
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Diabetes mellitus, Pulmonary arterial hypertension OMIM:613845
Progressive Supranuclear Palsy
Bradykinesia, Rigidity, Tremor, Blepharospasm ORPHA:683
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Fr... ORPHA:411602
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Respiratory insufficiency, Arrhythmia, Respiratory failure, Dilated car... OMIM:609015
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Young-Onset Parkinson Disease
Bradykinesia, Rigidity, Tremor, Spasticity ORPHA:2828
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th... OMIM:218700
Sepsis In Premature Infants
Decreased liver function, Jaundice, Hepatomegaly, Bradycardia, Decreased body weight, Hypotension... ORPHA:90051
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
D-Glyceric Aciduria
Neonatal respiratory distress, Bradycardia OMIM:220120
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Atelectasis OMIM:269860
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Atelectasis, Pulmonary arterial hyp... OMIM:615067
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Pseudohypoparathyroidism Type 2
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Prolonged QT interval ORPHA:94090
High Altitude Pulmonary Edema
Pulmonary edema, Pulmonary opacity, Hypoxemia, Tachycardia, Cyanosis ORPHA:330012
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Respiratory failu... OMIM:618278
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Prolonged QT interval, Elevated circulating hepatic transaminase ... ORPHA:26793
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Type I diabetes mellitus OMIM:620166
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Sinus bradycardia OMIM:126320
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Von Hippel-Lindau Disease
Myocarditis, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Palpitations, Pancreatic islet... ORPHA:892
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Cyanosis ORPHA:98913
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Pulmonary fibrosis, Respiratory ... OMIM:607625
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl... OMIM:234200
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Illum Syndrome
Bradycardia OMIM:208155
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death, Congestive heart failure, Pulmonary arterial hypertension OMIM:616482
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,... ORPHA:217563
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Intracranial hemorrhage ORPHA:3226
Lymphangioleiomyomatosis
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... ORPHA:538
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure, Cardiomyopathy, Hypothyroidism ORPHA:445038
Leigh Syndrome
Respiratory insufficiency, Respiratory failure OMIM:256000
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Blepharospasm, Upper motor neuron dysfunction, Eyelid ap... ORPHA:306674
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Neonatal respiratory distress OMIM:614653
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Respiratory insufficiency, Death in infancy, Arrhythmia, Resp... OMIM:608836
Friedreich Ataxia
Congestive heart failure, Diabetes mellitus, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Truncal ataxia, Poor fine motor coordination, Dysdiadochokinesis, Actio... ORPHA:309854
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency