Platelet Prostacyclin Receptor Defect |
|
Intermittent claudication |
OMIM:262875 |
Raynaud Disease |
|
Raynaud phenomenon |
OMIM:179600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Cardiogenic Shock |
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Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Spinocerebellar Ataxia Type 27 |
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Cerebellar atrophy, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tru... |
ORPHA:98764 |
Congenital Aortic Valve Stenosis |
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Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Cerebellar vermis atr... |
ORPHA:98773 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Co... |
OMIM:607454 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dementia, Mental deterioration, Akinesia |
OMIM:300894 |
Congenital Analbuminemia |
|
Low pulse pressure |
ORPHA:86816 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Akinesia, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Pterygium, Polymicrogyria, Dandy... |
OMIM:225790 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memory impairment, C... |
ORPHA:247234 |
Fibromuscular Dysplasia, Arterial |
|
Renovascular hypertension, Myocardial infarction, Intermittent claudication |
OMIM:135580 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, C... |
ORPHA:370022 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Freezing of gait, Akinesia, Unsteady gait, Blepharospasm, Dementia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Aceruloplasminemia |
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Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Cognitive impairment, Abnormal... |
ORPHA:48818 |
Hyperaldosteronism, Familial, Type Ii |
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Hypertension |
OMIM:605635 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Akinesia, Dementia, Gait disturbance, Memory impairment |
ORPHA:454887 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Akinesia, Social and occupational deterioration, Blepharospasm, Falls, Gait imbalance, Mental det... |
ORPHA:240071 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Fetal Akinesia Deformation Sequence |
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Akinesia, Pterygium, Dandy-Walker malformation |
ORPHA:994 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Distal sensory impairment, Dementia, Gait disturbance |
OMIM:606693 |
Manganese Poisoning |
|
Memory impairment, Gait disturbance, Confusion, Akinesia |
ORPHA:306682 |
Perry Syndrome |
|
Frontotemporal dementia, Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Dementia, Akinesia |
OMIM:616840 |
Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Akinesia, Multiple pterygia |
OMIM:253290 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Postencephalitic Parkinsonism |
|
Bilateral ptosis, Paresthesia, Akinesia |
ORPHA:97349 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Akinesia, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Akinesia, Choreoathetosis, Blepharospasm, Dementia, Gait disturbance, Men... |
OMIM:234200 |
Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Dementia, Shuffling gait, Akinesia |
ORPHA:411602 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Inability to walk, Abnormal cerebellum morphology, Cerebellar hypoplasia |
ORPHA:86309 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Akinesia, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia |
OMIM:601104 |
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 |
|
Upslanted palpebral fissure, Akinesia, Ptosis |
OMIM:618947 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Myelopathy, Impaired proprioception, Choreoathetosis, Gait... |
ORPHA:3385 |