Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Platelet Prostacyclin Receptor Defect |
|
Intermittent claudication |
OMIM:262875 |
Raynaud Disease |
|
Raynaud phenomenon |
OMIM:179600 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension |
OMIM:608320 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Truncal ataxia, Memory impairment, Gait disturbance, Difficulty walking, G... |
ORPHA:98764 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Abnormal left ventricular function, Abnormal T-wave, Aortic valve stenosis, Abno... |
ORPHA:3093 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Cognitive impairment, Gait at... |
ORPHA:98773 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia 21 |
|
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Mental deteri... |
OMIM:607454 |
Paragangliomas 6 |
|
Hypertension |
OMIM:618464 |
Lissencephaly Type Iii And Bone Dysplasia |
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Akinesia, Microlissencephaly, Agenesis of cerebellar vermis |
OMIM:601160 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Gait imbalance, Akinesia, Freezing of gait, Blepharospasm, Loss of ambulation, Falls, Unsteady ga... |
ORPHA:240094 |
Congenital Analbuminemia |
|
Low pulse pressure |
ORPHA:86816 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Myocardial infarction, Renovascular hypertension |
OMIM:135580 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Akinesia, Ataxia, Dysdiadochokinesis, Memory impairment, Shuffling gait, Gait ataxia, Cerebellar ... |
ORPHA:247234 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... |
ORPHA:466650 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Dilated fourth ventricle, I... |
ORPHA:370022 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:614473 |
Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Blepharospasm, Limb ataxia, Cognitive impairment, Memory impairment, Abnormal d... |
ORPHA:48818 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Corticobasal Syndrome |
|
Akinesia, Memory impairment, Gait disturbance, Somatic sensory dysfunction, Dementia |
ORPHA:454887 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Impaired ... |
ORPHA:99 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Akinesia, Social and occupational deterioration, Blepharospasm, Mental deteriorat... |
ORPHA:240071 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
Fetal Akinesia Deformation Sequence |
|
Pterygium, Akinesia, Dandy-Walker malformation |
ORPHA:994 |
Kufor-Rakeb Syndrome |
|
Akinesia, Ataxia, Distal sensory impairment, Gait disturbance, Dementia |
OMIM:606693 |
Manganese Poisoning |
|
Gait disturbance, Akinesia, Memory impairment |
ORPHA:306682 |
Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Akinesia, Multiple pterygia |
OMIM:253290 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Akinesia, Dementia |
OMIM:616840 |
Perry Syndrome |
|
Akinesia, Frontotemporal dementia, Short stepped shuffling gait |
OMIM:168605 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Postencephalitic Parkinsonism |
|
Bilateral ptosis, Akinesia, Paresthesia |
ORPHA:97349 |
Atrioventricular Septal Defect 3 |
|
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... |
OMIM:600309 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Akinesia |
OMIM:618822 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Supranuclear Palsy, Progressive, 2 |
|
Frontolimbic dementia, Gait imbalance, Akinesia, Falls, Memory impairment, Eyelid apraxia |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Blepharospasm, Mental deterioration, Eyelid apraxia, Gait disturbance, Choreoat... |
OMIM:234200 |
Myopathy, Congenital, Compton-North |
|
Akinesia |
OMIM:612540 |
Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Shuffling gait, Akinesia, Dementia |
ORPHA:411602 |
Supranuclear Palsy, Progressive, 1 |
|
Frontolimbic dementia, Gait imbalance, Akinesia, Falls, Memory impairment, Eyelid apraxia |
OMIM:601104 |
Dpagt1-Cdg |
|
Akinesia, Abnormal cerebellum morphology, Inability to walk, Ataxia, Cerebellar hypoplasia |
ORPHA:86309 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Progressive neurologic deterioration |
OMIM:608013 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Upslanted palpebral fissure, Ptosis |
OMIM:618947 |
African Trypanosomiasis |
|
Akinesia, Myelopathy, Gait disturbance, Somatic sensory dysfunction, Difficulty walking, Choreoat... |
ORPHA:3385 |