Disseminated Sclerosis With Narcolepsy |
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Narcolepsy |
OMIM:223300 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response, Seizure |
OMIM:300607 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
Narcolepsy 3 |
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Narcolepsy |
OMIM:609039 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia |
ORPHA:98764 |
Hyperekplexia-Epilepsy Syndrome |
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Focal impaired awareness seizure, Exaggerated startle response, Generalized tonic seizure |
ORPHA:163985 |
Narcolepsy 7 |
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Narcolepsy |
OMIM:614250 |
Narcolepsy 1 |
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Narcolepsy |
OMIM:161400 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
Developmental And Epileptic Encephalopathy 68 |
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Status epilepticus, Myoclonus, Exaggerated startle response |
OMIM:618201 |
Parkinson Disease 17 |
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Akinesia |
OMIM:614203 |
Hyperekplexia 1 |
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Myoclonus, Nocturnal seizures, Exaggerated startle response, Seizure |
OMIM:149400 |
Corticobasal Syndrome |
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Gait disturbance, Somatic sensory dysfunction, Akinesia |
ORPHA:454887 |
Spinocerebellar Ataxia 21 |
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Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
OMIM:607454 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Seizure |
OMIM:618367 |
Kufor-Rakeb Syndrome |
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Akinesia, Ataxia, Distal sensory impairment, Gait disturbance, Dysphagia |
OMIM:606693 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Dysphagia |
ORPHA:247234 |
Renal Glucosuria |
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Polyphagia, Polydipsia |
OMIM:233100 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
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Akinesia |
OMIM:618822 |
Hyperekplexia 2 |
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Myoclonus, Exaggerated startle response |
OMIM:614619 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Narcolepsy |
OMIM:604121 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Akinesia, Freezing of gait |
OMIM:619911 |
Lissencephaly Type Iii And Bone Dysplasia |
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Akinesia |
OMIM:601160 |
Type 1 Diabetes Mellitus |
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Polyphagia, Polydipsia |
OMIM:222100 |
Autosomal Dominant Cerebellar Ataxia |
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Akinesia, Progressive cerebellar ataxia, Pseudobulbar paralysis, Impaired vibratory sensation, Ch... |
ORPHA:99 |
Classic Progressive Supranuclear Palsy Syndrome |
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Gait imbalance, Neuromuscular dysphagia, Akinesia, Falls |
ORPHA:240071 |
Tay-Sachs Disease |
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Exaggerated startle response, Seizure |
OMIM:272800 |
Arthrogryposis Multiplex Congenita 6 |
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Akinesia |
OMIM:619334 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response, Seizure |
ORPHA:309246 |
Postencephalitic Parkinsonism |
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Dysphagia, Akinesia, Paresthesia |
ORPHA:97349 |
Lethal Congenital Contracture Syndrome 2 |
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Akinesia |
OMIM:607598 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Akinesia |
OMIM:225790 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response, Seizure |
OMIM:272750 |
Aceruloplasminemia |
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Akinesia, Ataxia, Limb ataxia, Chorea, Gait ataxia |
ORPHA:48818 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Myoclonus, Athetosis... |
OMIM:608643 |
Myopathy, Congenital, Compton-North |
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Akinesia |
OMIM:612540 |
Manganese Poisoning |
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Gait disturbance, Akinesia |
ORPHA:306682 |
Perry Syndrome |
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Akinesia, Short stepped shuffling gait |
OMIM:168605 |
Acquired Central Diabetes Insipidus |
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Polydipsia |
ORPHA:95626 |
East Syndrome |
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Ataxia, Inability to walk, Polydipsia, Salt craving, Difficulty walking |
ORPHA:199343 |
Multiple Pterygium Syndrome, Lethal Type |
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Akinesia |
OMIM:253290 |
Fetal Akinesia Deformation Sequence |
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Akinesia |
ORPHA:994 |
Stiff-Person Syndrome |
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Myoclonic spasms, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Narcolepsy |
ORPHA:314404 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Seizure |
OMIM:615574 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Akinesia |
OMIM:616840 |
Hereditary Late-Onset Parkinson Disease |
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Dysphagia, Shuffling gait, Akinesia |
ORPHA:411602 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
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Polydipsia |
OMIM:304900 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Gaucher Disease, Perinatal Lethal |
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Dysphagia, Akinesia |
OMIM:608013 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Akinesia |
OMIM:619147 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Supranuclear Palsy, Progressive, 2 |
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Gait imbalance, Akinesia, Dysphagia, Falls |
OMIM:609454 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response, Seizure |
ORPHA:438216 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Akinesia, Ataxia, Gait disturbance, Choreoathetosis, Dysphagia |
OMIM:234200 |
Tay-Sachs Disease |
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Typical absence seizure, Laryngeal dystonia, Exaggerated startle response, Focal impaired awarene... |
ORPHA:845 |
Sandhoff Disease |
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Bilateral tonic-clonic seizure, Myoclonic seizure, Exaggerated startle response |
OMIM:268800 |
Supranuclear Palsy, Progressive, 1 |
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Gait imbalance, Akinesia, Dysphagia, Falls |
OMIM:601104 |
Teratoma, Pineal |
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Polydipsia |
OMIM:273120 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Dysdiadochokinesis, Salt craving, Ataxia, Polydipsia |
OMIM:612780 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Narcolepsy |
ORPHA:293987 |
Niemann-Pick Disease Type C |
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Narcolepsy |
ORPHA:646 |
Arthrogryposis Multiplex Congenita 5 |
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Akinesia |
OMIM:618947 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Generalized-onset seizure, Exaggerated startle response, Seizure |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Exaggerated startle response, Seizure |
ORPHA:521426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Seizure |
OMIM:253800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Seizure |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Dpagt1-Cdg |
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Akinesia, Ataxia, Inability to walk |
ORPHA:86309 |
African Trypanosomiasis |
|
Narcolepsy |
ORPHA:3385 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Generalized tonic seizure, Myoclonus, Epileptic spasm, Bilateral to... |
ORPHA:438213 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
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Limb tremor, Myoclonus, Focal tonic seizure, Seizure |
OMIM:300699 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Seizure |
OMIM:619522 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build |
ORPHA:364028 |