7q11.23 duplication syndrome |
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Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
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Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
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Cognitive impairment |
ORPHA:3057 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... |
ORPHA:240094 |
Spinocerebellar Ataxia Type 27 |
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Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia |
ORPHA:98764 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
Parkinson Disease 17 |
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Akinesia |
OMIM:614203 |
Atypical Juvenile Parkinsonism |
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Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia |
ORPHA:391411 |
Spinocerebellar Ataxia 21 |
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Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
Congenital Myopathy 9A |
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Akinesia |
OMIM:618822 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Shuffling gait, Akinesia, Gait ataxia, Ataxia, Abnormal vestibulo-ocular reflex, Dysdiadochokinesis |
ORPHA:247234 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Akinesia, Freezing of gait |
OMIM:619911 |
Corticobasal Syndrome |
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Akinesia, Gait disturbance |
ORPHA:454887 |
Arthrogryposis Multiplex Congenita 6 |
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Akinesia |
OMIM:619334 |
Complex Regional Pain Syndrome |
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Pedal edema, Edema of the upper limbs, Allodynia |
ORPHA:83452 |
Lethal Congenital Contracture Syndrome 2 |
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Akinesia |
OMIM:607598 |
Perry Syndrome |
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Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Kufor-Rakeb Syndrome |
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Akinesia, Gait disturbance, Ataxia |
OMIM:606693 |
Manganese Poisoning |
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Akinesia, Gait disturbance |
ORPHA:306682 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Akinesia |
OMIM:300894 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Truncal ataxia, Akinesia, Choreoathetosis |
OMIM:618249 |
Classic Progressive Supranuclear Palsy Syndrome |
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Akinesia, Gait imbalance, Falls |
ORPHA:240071 |
Pudendal Neuralgia |
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Dyspareunia, Erectile dysfunction, Allodynia |
ORPHA:60039 |
Congenital Myopathy 12 |
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Akinesia |
OMIM:612540 |
Fetal Akinesia Deformation Sequence |
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Akinesia |
ORPHA:994 |
Aceruloplasminemia |
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Akinesia, Limb ataxia, Gait ataxia, Ataxia |
ORPHA:48818 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Nausea, Hyperhidrosis, Allodynia |
ORPHA:51890 |
Erythermalgia, Primary |
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Diarrhea, Xerostomia, Hyperhidrosis, Constipation |
OMIM:133020 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Postencephalitic Parkinsonism |
|
Akinesia |
ORPHA:97349 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Akinesia |
OMIM:619147 |
Achalasia, Familial Esophageal |
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Xerostomia, Achalasia |
OMIM:200400 |
Gaucher Disease, Perinatal Lethal |
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Akinesia |
OMIM:608013 |
Postorgasmic Illness Syndrome |
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Xerostomia, Hyperhidrosis |
ORPHA:279947 |
Intestinal Botulism |
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Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Neurotrophic Keratopathy |
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Corneal stromal edema, Allodynia |
ORPHA:137596 |
Hereditary Late-Onset Parkinson Disease |
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Shuffling gait, Akinesia |
ORPHA:411602 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Xerostomia, Dysmetria, Ataxia |
OMIM:618527 |
Spinal Cord Injury |
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Paralytic ileus, Allodynia |
ORPHA:90058 |
Iatrogenic Botulism |
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Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Sjogren Syndrome |
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Xerostomia |
OMIM:270150 |
Inhalational Botulism |
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Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Botulism |
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Diarrhea, Xerostomia, Dysphagia, Constipation |
ORPHA:1267 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Supranuclear Palsy, Progressive, 2 |
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Akinesia, Gait imbalance, Falls |
OMIM:609454 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Vomiting, Diarrhea, Gastroparesis, Constipation, Intermittent diarrhea, Dysphagia, Allodynia |
OMIM:603041 |
Foodborne Botulism |
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Diarrhea, Xerostomia, Dysphagia, Constipation |
ORPHA:228371 |
Arthrogryposis Multiplex Congenita 5 |
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Akinesia |
OMIM:618947 |
Lambert-Eaton Myasthenic Syndrome |
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Impotence, Hypohidrosis, Xerostomia, Constipation |
ORPHA:43393 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Gait imbalance, Falls |
OMIM:601104 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Akinesia, Gait disturbance, Choreoathetosis, Ataxia |
OMIM:234200 |
Dpagt1-Cdg |
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Inability to walk, Akinesia, Ataxia |
ORPHA:86309 |
Helix Syndrome |
|
Hyperparathyroidism, Hypohidrosis, Xerostomia, Anhidrosis |
OMIM:617671 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia |
OMIM:180920 |
African Trypanosomiasis |
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Difficulty walking, Akinesia, Gait disturbance, Choreoathetosis |
ORPHA:3385 |