Persistent Idiopathic Facial Pain |
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Depression, Anxiety, Somatic sensory dysfunction, Paresthesia, Impaired pain sensation |
ORPHA:398147 |
Severe Primary Trimethylaminuria |
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Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Familial Alzheimer-Like Prion Disease |
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Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Schizophrenia 19 |
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Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
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Cognitive impairment |
ORPHA:3057 |
Panic Disorder 1 |
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Anxiety |
OMIM:167870 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
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Anxiety |
OMIM:614346 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
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Dementia, Cognitive impairment |
OMIM:618564 |
Semantic Dementia |
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Abulia, Dementia |
ORPHA:100069 |
Obsessive-Compulsive Disorder |
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Depression, Anxiety, Skin-picking |
OMIM:164230 |
Complex Regional Pain Syndrome |
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Limb pain, Allodynia |
ORPHA:83452 |
Trigeminal Neuralgia |
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Ocular pain, Mandibular pain, Trigeminal neuralgia, Allodynia |
ORPHA:221091 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
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Depression, Personality disorder, Aggressive behavior, Cognitive impairment |
OMIM:615005 |
Intellectual Developmental Disorder, X-Linked 63 |
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Anxiety |
OMIM:300387 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia |
OMIM:615483 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Back pain, Allodynia, Abdominal pain |
ORPHA:51890 |
Epilepsy, Progressive Myoclonic, 12 |
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Ataxia, Dysmetria, Depression, Mental deterioration, Myoclonus, Anxiety, Bilateral tonic-clonic s... |
OMIM:619191 |
Chorea, Benign Hereditary |
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Anxiety, Chorea |
OMIM:118700 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Inappropriate behavior, Chorea, Mem... |
ORPHA:401901 |
Geniospasm 1 |
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Anxiety |
OMIM:190100 |
Creutzfeldt-Jakob Disease |
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Apathy, Depression, Myoclonus, Anxiety, Memory impairment, Gait ataxia, Irritability, Dementia |
OMIM:123400 |
Huntington Disease-Like 1 |
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Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Dementia |
OMIM:603218 |
Neurotrophic Keratopathy |
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Allodynia |
ORPHA:137596 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... |
ORPHA:412066 |
Benign Schwannoma |
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Pain, Allodynia |
ORPHA:252164 |
Huntington Disease-Like 2 |
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Apathy, Depression, Anxiety, Chorea, Irritability, Dementia |
OMIM:606438 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
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Paroxysmal choreoathetosis, Anxiety, Generalized-onset seizure, Focal-onset seizure |
OMIM:602066 |
Myoclonus-Dystonia Syndrome |
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Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Personality disorder |
ORPHA:36899 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Pandas |
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Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Chorea, Separation ... |
ORPHA:66624 |
Landau-Kleffner Syndrome |
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Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... |
ORPHA:98818 |
Female Restricted Epilepsy With Intellectual Disability |
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Status epilepticus, Atypical absence seizure, Atonic seizure, Impulsivity, Generalized myoclonic ... |
ORPHA:101039 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Rolandic Epilepsy |
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Atypical absence seizure, Focal hemifacial clonic seizure, Emotional lability, Depression, Bilate... |
ORPHA:1945 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Depression, Anxiety, Dementia |
OMIM:605909 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Abdominal cramps, Allodynia, Abdominal pain |
OMIM:603041 |
Spinocerebellar Ataxia 48 |
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Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Chorea, Bilateral tonic-clonic seiz... |
OMIM:618093 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Early-Onset Schizophrenia |
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Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Continuous Spikes And Waves During Sleep |
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Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Inappropriate behavior, Ch... |
ORPHA:309246 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Tay-Sachs Disease |
|
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia |
ORPHA:845 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:245570 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
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Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure |
ORPHA:163721 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Generalized tonic seizure, Myoclonus, Epileptic spasm, Febrile seizure (within the age range of 3... |
ORPHA:289266 |