Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... |
ORPHA:229 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Clonus, Descending aortic dissection, Small thenar eminence, Ascending aortic d... |
OMIM:620080 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Para... |
ORPHA:36382 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supr... |
ORPHA:90064 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation |
OMIM:616166 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... |
ORPHA:91387 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Hypotonia, Knee flexion contracture, Facial diplegia, Distal ... |
OMIM:616286 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis |
OMIM:618496 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Hypotonia, Paralysis |
OMIM:612740 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... |
OMIM:607641 |
Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction, Paralysis |
ORPHA:132 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di... |
OMIM:619825 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Neonatal hypotonia, Decreased muscle mass, Congestive heart failure, Elbow ... |
ORPHA:1900 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Hypotonia, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Ataxia, Transient ischemic attack, Parkinsonism, Paralysis, Paraparesis, Int... |
ORPHA:140989 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... |
ORPHA:3342 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic diss... |
ORPHA:397 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Rhabdomyolysis, Intracranial hemorrhage... |
ORPHA:449285 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Hypotonia, Facial diplegia, Distal amyotrophy, Distal ... |
OMIM:616287 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic ... |
OMIM:614816 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis |
OMIM:613710 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Claw hand deformity, Paralysis |
OMIM:605285 |
Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Subarachnoid he... |
ORPHA:90068 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness |
OMIM:612300 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Paralysis, Impaired myocardial contractility, Respiratory paral... |
ORPHA:681 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... |
OMIM:615779 |
Rabies |
|
Vocal cord paresis, Cerebral palsy, Sudden cardiac death |
ORPHA:770 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Hypotonia |
ORPHA:868 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis, Dystonia |
OMIM:300857 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Congenital Myopathy 15 |
|
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal cord paralysis, Hypotonia, I... |
OMIM:620161 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation |
OMIM:618343 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Hypotonia, Periodic paralysis |
OMIM:170400 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Triceps weakness, Quadriceps... |
ORPHA:99947 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... |
ORPHA:860 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... |
ORPHA:60030 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Hypotonia, Aortic root aneurysm, Mitral regurgitation, A... |
OMIM:615582 |
Charcot-Marie-Tooth Disease Type 4A |
|
Hand muscle weakness, Quadriceps muscle weakness, Denervation of the diaphragm, Poor gross motor ... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in upper limbs, Flexion contracture, Proximal muscle weakness in lower l... |
OMIM:607706 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Congestive heart failure, Descending aortic dissection, Hypotonia, Dilat... |
ORPHA:558 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... |
OMIM:610168 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Arterial tortuosity, Patent d... |
ORPHA:284984 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Hand muscle weakness |
OMIM:162500 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Hypertonia, Abnormal aortic morphology, Abn... |
ORPHA:1166 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... |
ORPHA:99050 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... |
ORPHA:3092 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:261 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... |
OMIM:619178 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Spasticity, Coarctation of aorta, Tetraplegia, Hemiparesis, Abnormal aortic ... |
ORPHA:2396 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Congestive heart failure, F... |
OMIM:154700 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations, Periodic paralysis |
OMIM:188580 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture... |
ORPHA:98863 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Congestive heart failur... |
ORPHA:682 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:94080 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p... |
ORPHA:1330 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276241 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... |
ORPHA:51608 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Periodic paralysis |
ORPHA:757 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Ataxia, Cerebral hemorrhage, Flexion contracture, Aortic root aneurysm, Tet... |
ORPHA:666 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Weill-Marchesani Syndrome 2 |
|
Congestive heart failure, Patent ductus arteriosus, Elbow flexion contracture, Mitral regurgitati... |
OMIM:608328 |
Malignant Migrating Focal Seizures Of Infancy |
|
Hypotonia, Hypertonia, Aortopulmonary collateral arteries |
ORPHA:293181 |
Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... |
OMIM:609192 |
Foodborne Botulism |
|
Arrhythmia, Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Vocal cord paralysis, Hypotonia, Intrinsic hand muscle atrophy, Knee flexi... |
OMIM:615490 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Periodic hyperkalemic paralysis |
OMIM:145260 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Hypotonia, Intrinsic hand muscle atrophy, Pol... |
OMIM:619574 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
You-Hoover-Fong Syndrome |
|
Ataxia, Hypotonia, Coarctation of aorta, Vascular ring, Spasticity, Double aortic arch |
OMIM:616954 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276244 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Short... |
ORPHA:79102 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Paralysis |
ORPHA:83601 |
Paramyotonia Congenita Of Von Eulenburg |
|
Neonatal hypotonia, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Facial muscle hyp... |
ORPHA:684 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Hypotonia |
ORPHA:2516 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... |
ORPHA:99413 |
Turner Syndrome |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Coarctation of aorta, Gastroi... |
ORPHA:99226 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Carotid paraganglioma, Palpitations, Hypertension associated w... |
OMIM:168000 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... |
ORPHA:286 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... |
OMIM:130050 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... |
ORPHA:79139 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Spasticity, Paralysis |
ORPHA:803 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
Scimitar Syndrome |
|
Left-to-right shunt, Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery ... |
ORPHA:185 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Limb muscle weakness, Intrinsic hand muscle atrophy, Gait ataxia, Distal... |
OMIM:614895 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Hypoton... |
OMIM:211530 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Respiratory paralysis, Paralysis |
OMIM:176000 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Jaw claudication, Syncope, Bradycardia, Vascular dilatation |
ORPHA:221098 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:276621 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Paralysis, Spastic paraplegia, Calcification of the aorta, Limb... |
ORPHA:2072 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic paralysis, Sy... |
OMIM:170390 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Gitelman Syndrome |
|
Prolonged QT interval, Ataxia, Paralysis, Rhabdomyolysis, Ventricular tachycardia, Palpitations, ... |
OMIM:263800 |
15Q11.2 Microdeletion Syndrome |
|
Ataxia, Poor coordination, Coarctation of aorta, Total anomalous pulmonary venous return, Tetralo... |
ORPHA:261183 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... |
ORPHA:392 |
Rift Valley Fever |
|
Paralysis, Hematemesis, Paraparesis, Retinal hemorrhage, Melena, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Double Outlet Right Ventricle |
|
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmonic stenosis... |
ORPHA:3426 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Carotid artery dissection, Congenital diaphragmatic hernia, Pulmonary arter... |
OMIM:208050 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... |
ORPHA:980 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Abnormal aortic morpho... |
ORPHA:1926 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Proxi... |
OMIM:606071 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Gitelman Syndrome |
|
Prolonged QT interval, Paralysis, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal blood pressur... |
ORPHA:358 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Hypotonia, Coarctation of aorta, Suprava... |
OMIM:618164 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... |
ORPHA:29072 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypotonia, Hypertonia, Myoclonus, Generalized hypotonia, Tetraparesis |
OMIM:203700 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Hyperki... |
ORPHA:297 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypotonia, Coarctation of aorta, Pulmo... |
OMIM:601186 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal ao... |
ORPHA:251071 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Flexion contracture, Retinal hemorrhage, Hypotonia, Hy... |
OMIM:614653 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Vocal cord paralysis, Poor... |
ORPHA:99956 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... |
OMIM:208530 |
Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... |
OMIM:608978 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology, Hypotonia, Congenital diaphragmatic hernia |
ORPHA:1001 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Distal amyotrophy, Limb muscle weakness |
OMIM:601152 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Vocal cord paralysis, Hypotonia, Hyperkinetic mov... |
OMIM:617799 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Hemiplegia/hemiparesis, Hypotonia, Coarctation of aorta, Aor... |
ORPHA:42775 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tr... |
ORPHA:3385 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Anomalous pulmonary venous return, Con... |
ORPHA:3097 |
Tyrosinemia, Type I |
|
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Periodic paralysis |
OMIM:276700 |
Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Distal amyotrophy, Tongue fasciculations, Head tremor, Facial paralysis, Weakness of... |
ORPHA:99949 |
Esophageal Atresia |
|
Hypotonia, Coarctation of aorta, Hypertonia, Vocal cord paresis, Tetralogy of Fallot |
ORPHA:1199 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Babinski sign, Vocal cord paralysis, Gait atax... |
ORPHA:268882 |
Alport Syndrome |
|
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Unilateral vocal cord paralysis, Hypotonia, Spasticity |
OMIM:301030 |
Fryns Syndrome |
|
Tetralogy of Fallot, Abnormal aortic arch morphology, Congenital diaphragmatic hernia, Abnormal a... |
ORPHA:2059 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Hypotonia, Coarctation of aorta, Abnormal aortic morpholo... |
ORPHA:1052 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, Vocal cord paralysis, Tricuspid stenosis, Interrupted aortic arch |
OMIM:164280 |
Pagod Syndrome |
|
Sudden cardiac death, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aort... |
ORPHA:991 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Chorea, Hypotonia, Spasticity, Abnormal aortic morphology, Dysto... |
ORPHA:2162 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Tremor, Congestive heart failure, Hypertension, Palpitations, Hypote... |
ORPHA:91347 |
Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... |
OMIM:620025 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... |
OMIM:270100 |
Williams-Beuren Syndrome |
|
Incoordination, Portal hypertension, Retinal arteriolar tortuosity, Poor coordination, Vocal cord... |
OMIM:194050 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block,... |
ORPHA:581 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten... |
ORPHA:99125 |
Degcags Syndrome |
|
Tachycardia, Diaphragmatic eventration, Patent ductus arteriosus, Vocal cord paralysis, Hypotonia... |
OMIM:619488 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Heart murmur, Cardiom... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Heart murmur, Cardiom... |
ORPHA:217093 |
Codas Syndrome |
|
Vocal cord paresis, Hypotonia, Generalized hypotonia |
OMIM:600373 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Mucopolysaccharidosis Type 2 |
|
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Contractu... |
ORPHA:580 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... |
ORPHA:84 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis |
ORPHA:64744 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Joint contracture of the ... |
ORPHA:324540 |
Autosomal Recessive Robinow Syndrome |
|
Tetralogy of Fallot, Camptodactyly of finger, Abnormal aortic morphology |
ORPHA:1507 |
Schinzel-Giedion Syndrome |
|
Vocal cord paralysis, Macroglossia, Hypertonia, Camptodactyly, Spasticity |
ORPHA:798 |
Igg4-Related Kidney Disease |
|
Pericarditis, Abnormal aortic morphology, Arteritis |
ORPHA:449395 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Hypotonia |
OMIM:225400 |