| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Depres... |
OMIM:619491 |
| Basal Ganglia Calcification, Idiopathic, 4 |
|
Bipolar affective disorder, Attention deficit hyperactivity disorder, Depression |
OMIM:615007 |
| Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Panic attack, Agoraphobia, A... |
OMIM:159900 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Familial Alzheimer-Like Prion Disease |
|
Depression, Attention deficit hyperactivity disorder, Emotional lability, Anxiety |
ORPHA:280397 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Anxiety, Elevated circulating creatine kinase concentration, Focal dysto... |
ORPHA:309169 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Inappropriate behavior, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction... |
ORPHA:401901 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior |
OMIM:607417 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Inertia, Parkinsonism, Rigidity, Limb dystonia, Clum... |
ORPHA:216873 |
| Brunner Syndrome |
|
Aggressive behavior, Self-injurious behavior, Impulsivity, Kinetic tremor, Low frustration tolerance |
OMIM:300615 |
| Dystonia 12 |
|
Anxiety, Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Dysphagia, Dystonia, ... |
OMIM:128235 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Panic attack, Depressio... |
ORPHA:36899 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Hemiplegia, Ataxia, Agitation, Tremor, Anxiety |
OMIM:141500 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Spasticity, Ankle clonus, Hyperactivity, Spastic tetraplegia, Babinski sign, Irritability |
OMIM:616657 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Spasticity, Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Anxiety, Parkinsonism, Resting tremor, Limb dystonia, Torticollis, Emotional labilit... |
ORPHA:71517 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia, Dysphagia |
OMIM:615945 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia |
OMIM:264070 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Agitation, Tremor, Anxiety, Dystonia |
OMIM:619651 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tran... |
OMIM:612716 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dysphagia, Irritability, D... |
OMIM:261630 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Hyperactivity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hype... |
OMIM:615924 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Anxiety, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Depression,... |
OMIM:618093 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depressi... |
OMIM:604326 |
| Hartnup Disorder |
|
Hyperactivity, Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyp... |
OMIM:234500 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti... |
OMIM:606159 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Hyperglycinemia, Myoclonus, Impulsivity, Irritability, Restle... |
OMIM:605899 |
| Huntington Disease-Like 2 |
|
Chorea, Inertia, Rigidity, Apathy, Action tremor, Depression, Anxiety, Irritability, Dystonia, Br... |
OMIM:606438 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:615048 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Depression, Anxiety |
OMIM:619191 |
| Huntington Disease-Like 1 |
|
Chorea, Aggressive behavior, Rigidity, Incoordination, Dysmetria, Depression, Anxiety, Restlessness |
OMIM:603218 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic m... |
ORPHA:240085 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormality of extrapyramida... |
ORPHA:382 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability |
OMIM:617028 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Dysphagia, Br... |
ORPHA:210571 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ... |
OMIM:213600 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Pandas |
|
Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Clumsiness, Emotional labi... |
ORPHA:66624 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Aggressive behavior, Anxiety, Hyperkinetic movements, Parkinsonism, Ataxia, Tremor, Actio... |
OMIM:619738 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Emotional lability, Inappropriate laughter, Tremor, Self-mutilation |
OMIM:616269 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Ataxia,... |
OMIM:615362 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Abnormal aggressive, ... |
ORPHA:3077 |
| Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Rigidity, Myoclonus, Ataxia, Depression, Progressive cerebell... |
ORPHA:248111 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperprolinemia, Ataxia |
OMIM:239500 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619279 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Poor coordination, Agitation, Impulsivity |
OMIM:309548 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Upper motor neuron dysfunction, Elevated circulating creatine kinase concentration, Tremor, Dysph... |
ORPHA:276435 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Myopathy, spheroid body |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia |
OMIM:182920 |
| Urocanase Deficiency |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:276880 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Hypermanganesemia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, O... |
ORPHA:521406 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Attention deficit hyperactivity... |
OMIM:619725 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia |
OMIM:612126 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Dysphagia, Hyperkineti... |
OMIM:233910 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Clumsiness, Agitation, Impulsivity |
ORPHA:100973 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dysphagia, Bradykinesia, Gait ataxia, Aggressive behavior, Dysmetria, Limb fascicu... |
OMIM:615157 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Hyperactivity, Aggressive behavior, Tremor |
OMIM:619470 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Hyperactivity, Aggressive behavior, Ataxia, Tremor |
OMIM:300983 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,... |
ORPHA:251282 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ... |
OMIM:614307 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... |
OMIM:606703 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigidity, Limb apraxia, Apraxia, ... |
ORPHA:240103 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Ataxia, Tremor, ... |
OMIM:261640 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torticollis, Torsion dystonia, Tremor, Dysphagia |
OMIM:224500 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Attention deficit hyperactivity disorder, Ataxia |
OMIM:616421 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Aggressive behavior, Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Elevated circu... |
OMIM:612736 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attent... |
OMIM:261600 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Dysphagia |
OMIM:313200 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Hyperactivity, Aggressive behavior, Spasticity, Abnormal pyramidal sign, Lim... |
ORPHA:500180 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Impulsivity, Tremor, Lower limb spasticity |
OMIM:619028 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Aggressive behavior, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Ey... |
OMIM:612953 |
| Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus, Depression, Anxiety, Laryngeal dystonia, Dystonia |
OMIM:616398 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Lower ... |
OMIM:617916 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... |
OMIM:617284 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... |
ORPHA:3124 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Dopa-Responsive Dystonia |
|
Generalized dystonia, Anxiety, Parkinsonism, Rigidity, Poor coordination, Oculogyric crisis, Abno... |
ORPHA:255 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Myoclonus, Personality disorder |
ORPHA:2382 |
| Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder, Depression, Anxiety |
ORPHA:3375 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-aminobuty... |
OMIM:271980 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Depression, Dystonia, Bradykinesia |
ORPHA:306669 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Dysphagia,... |
OMIM:159950 |
| Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor, Depression,... |
OMIM:616795 |
| Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... |
OMIM:619827 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Tremor, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:614018 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Abnormal pyramidal sign, Postural tremor, Oculomotor apraxia, Choreoathetosis, Ataxia, Elevated c... |
ORPHA:64753 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... |
OMIM:619405 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor |
OMIM:618387 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:609425 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Impaired oropharyngeal swallow response, Limb dystonia, My... |
ORPHA:53351 |
| Perry Syndrome |
|
Inappropriate behavior, Suicidal ideation, Parkinsonism, Rigidity, Apathy, Tremor, Depression, An... |
OMIM:168605 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Emotional lability, Impulsivity, Slurred speech,... |
ORPHA:98818 |
| Perry Syndrome |
|
Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Tremor, Depression |
ORPHA:178509 |
| Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Bradykinesia, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myocl... |
ORPHA:282166 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Hy... |
ORPHA:1578 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Hyperphenylalaninemia, Hemiplegia, Paraplegia, Attention deficit hyperac... |
ORPHA:79254 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Aggressive behavior, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism w... |
OMIM:606693 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Involuntary movements, Apraxia, Inappropriate crying, Ag... |
ORPHA:3095 |
| Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Spasticity, Ankle clonus, Generalized dystonia, Parkinsonism, Limb dystonia, C... |
OMIM:617013 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Bipolar affective disorder |
OMIM:619927 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Hemiparesis, Spastic tetraparesis, Impulsivity, Hypertonia, S... |
OMIM:604317 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Limb fasciculations, Tremor, Dysphagia |
ORPHA:90117 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration |
ORPHA:210128 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Rigidity, Dysmetria, Tremor |
OMIM:618090 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Aggressive behavior, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, My... |
OMIM:137440 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... |
OMIM:128100 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
| Multiple System Atrophy, Cerebellar Type |
|
Neuromuscular dysphagia, Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, P... |
ORPHA:227510 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Spasticity, Self-injurious behavior, Depression, Anxiety |
OMIM:619467 |
| Adult-Onset Dystonia-Parkinsonism |
|
Abnormal circulating creatine kinase concentration, Spasticity, Rigidity, Eyelid apraxia, Clumsin... |
ORPHA:199351 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
| Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
| Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Bipolar affective disorder, ... |
ORPHA:485350 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Hyperactivity, Spasticity, Self-injurious behavior, Tremor |
OMIM:618718 |
| Neuroferritinopathy |
|
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Writer's cramp, Palatal tremor, Involuntary ... |
ORPHA:157846 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Limb ataxia, Hand tremor, Tremor, Depression |
ORPHA:98764 |
| Multiple System Atrophy, Parkinsonian Type |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ap... |
ORPHA:98933 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Agitation, Tremor, Hypertonia, Dysphagia, Dyst... |
OMIM:617435 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior |
ORPHA:101039 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
| Oculopharyngodistal Myopathy 4 |
|
Elevated circulating creatine kinase concentration, Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Gait ataxia, Dysdiadochokinesis, Postural tremor, Resting tremor, P... |
OMIM:300623 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... |
OMIM:617145 |
| Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Spasticity, Dysdiadochokinesis, Truncal ataxia, Clumsiness, A... |
ORPHA:228360 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Spastic diplegia, Clumsiness, Upper motor neuron dysfunction, Emotional ... |
ORPHA:206443 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Hyperactivity, Spasticity, Dysdiadochokinesis, Emotional lability, Babinski ... |
OMIM:610217 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Inappropriate behavior, Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkin... |
ORPHA:99750 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Opisthotonus, Rigidity, Paraparesis, Babinski sign,... |
OMIM:607483 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoathetosis, Emotio... |
OMIM:300055 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin... |
OMIM:208920 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Rigidity, Choreoathetosis, Hypertonia |
OMIM:620023 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... |
ORPHA:420492 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson... |
OMIM:613280 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia |
OMIM:615010 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
| Myopathy With Extrapyramidal Signs |
|
Chorea, Hyperlysinemia, Hyperactivity, Clumsiness, Abnormality of extrapyramidal motor function, ... |
OMIM:615673 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Hyperactivity, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor m... |
ORPHA:363400 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Dysphagia, Progressive cerebellar at... |
OMIM:608768 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia |
OMIM:618049 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Parkinsonism, Inappropriate crying, Limb dystonia, Oculogyric crisis, Ataxia,... |
ORPHA:352649 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor |
OMIM:213200 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Upper limb spasticity, Babinski sign, Spastic paraplegia, Neonatal hyperbilirubine... |
OMIM:609727 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Aceruloplasminemia, Parkinsonism, Rigidity, Involuntary movem... |
ORPHA:48818 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Depression, Dysphagia, Dystonia, Bradykinesia |
OMIM:168600 |
| Cystathioninuria |
|
Tremor, Cystathioninemia |
ORPHA:212 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Clumsiness, Agitation, Anxiety, Restlessness |
OMIM:300558 |
| X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Hyperactivity, Aggressive behavior, Hemiparesis, Clumsiness, Par... |
ORPHA:43 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Happy demeanor, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Anxiety, Dystonia, Brad... |
OMIM:300894 |
| Oculopharyngodistal Myopathy 3 |
|
Elevated circulating creatine kinase concentration, Tremor, Ataxia, Dysphagia |
OMIM:619473 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Hypertonia, Athetosis... |
ORPHA:52503 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit... |
ORPHA:99 |
| Young-Onset Parkinson Disease |
|
Spasticity, Anxiety, Rigidity, Apathy, Agitation, Impulsivity, Tremor, Depression, Panic attack, ... |
ORPHA:2828 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Emotional lability, Tremor, Dystonia |
ORPHA:542310 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Writer's cramp, Choreoathetosis, Apathy, Ataxia, Spastic paraplegia, Pro... |
OMIM:312080 |
| Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Hyperactivity, Cerebral palsy, Myoclonus, Attention deficit hyperactivity disorder, Anxiety |
OMIM:617600 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ... |
ORPHA:289494 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls,... |
OMIM:210000 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Tremor, Dysphagia, Dystonia |
OMIM:607694 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Parkinsonism with ... |
ORPHA:240071 |
| Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Abnormal pyramidal sign, Apraxia, Babinski sign, Focal dystonia, Tremor, Attention ... |
ORPHA:52368 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Borderline personality disorder, I... |
OMIM:618060 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
| Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Incoordination, Babinski sign, Dysmetria, Tremor, Frequent falls, Dysph... |
OMIM:302800 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Rigidity, Impulsivity, Tremor, Depression, Dysphagia, Dystonia, Bradykinesia |
ORPHA:683 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Incoordination, Ataxia, Tremor, Anxiety, Bradykinesia |
ORPHA:36387 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Apraxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:620141 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Mildly elevated creatine kinase, Tremor, Frequent falls, Depression, Anxiety, Fasci... |
ORPHA:329478 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hyperactivity, Aggressive behavior, Hypertriglyceridemia, Acute hyperammone... |
ORPHA:247585 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Limb hypertonia, Rigidity, Myoclonus, Ataxia, Impulsivity, Tremor, Attention deficit ... |
ORPHA:442835 |
| Adenylosuccinase Deficiency |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Spasticity, Myoclonus, Happy demeanor, Hemiplegi... |
OMIM:103050 |
| Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Dystonia, Dysphagia |
OMIM:304700 |
| Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal pyramidal sign, Tetraplegia |
ORPHA:369939 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Apathy, Parkinsonism with favorable response to dopaminer... |
ORPHA:411602 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... |
OMIM:606002 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... |
ORPHA:98773 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H... |
ORPHA:96 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
| Tetanus |
|
Rigidity, Elevated circulating creatine kinase concentration, Tremor, Hypertonia, Dysphagia, Opis... |
ORPHA:3299 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mildly elevated creatine kinase, Tremor, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... |
OMIM:614381 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Myoclonus, Depression, Dysphagia, Dystonia, Bradykinesia |
OMIM:168601 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Hypomagnesemia, Self-biting |
OMIM:618314 |
| Infantile Neuroaxonal Dystrophy |
|
Spasticity, Hyperactivity, Abnormal pyramidal sign, Progressive spasticity, Choking episodes, Emo... |
ORPHA:35069 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Poor fine motor coordination, Exaggerated startle response, ... |
ORPHA:845 |
| Serotonin Syndrome |
|
Rigidity, Myoclonus, Agitation, Tremor, Hypertonia, Anxiety, Clonus, Irritability, Restlessness |
ORPHA:43116 |
| Myopathy, Mitochondrial, And Ataxia |
|
Dysdiadochokinesis, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase con... |
OMIM:617675 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Spasticity, Hyperactivity, Cerebral palsy, Ataxia, Spastic paraparesis, Abnormal central motor fu... |
ORPHA:760 |
| Argininemia |
|
Hyperactivity, Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Hyperammonemi... |
OMIM:207800 |
| Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Eyelid apraxia, Involuntary movements, Tremor, Dysphagia, Dystonia, Brady... |
OMIM:615530 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Spasticity, Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder |
OMIM:610042 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Hemidystonia, Torticollis, Happy demeanor, Tremor, Attention deficit hyperac... |
OMIM:619680 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor,... |
ORPHA:240094 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Myoclonus, Happy demeanor, Ataxia, Inappropriate laughter, Tremor, Abnormal eating... |
ORPHA:98794 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Hyperactivity, Ankle clonus, Limb myoclonus, Hemiparesis, Oculomotor apraxia, Apra... |
ORPHA:139396 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
| Choreoacanthocytosis |
|
Hair-pulling, Blepharospasm, Limb dystonia, Elevated circulating creatine kinase concentration, S... |
ORPHA:2388 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia |
OMIM:616586 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Agitation, Truncal titubation, Dysmet... |
OMIM:618056 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Blepharospasm, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Eyelid... |
OMIM:234200 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Hypokalemia, Tremor |
OMIM:613239 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Spastic gait, Dysdiadochokinesis, Upper limb po... |
ORPHA:99027 |
| Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
| Alternating Hemiplegia Of Childhood |
|
Chorea, Aggressive behavior, Abnormal pyramidal sign, Rigidity, Oculomotor apraxia, Episodic hemi... |
ORPHA:2131 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
| Niemann-Pick Disease Type C |
|
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Axial dystonia, Frequent falls, Dysphag... |
ORPHA:646 |
| Hyperlysinemia |
|
Hyperlysinemia, Hyperactivity, Hypoornithinemia, Spastic diplegia, Clumsiness, Poor motor coordin... |
ORPHA:2203 |
| Brain-Lung-Thyroid Syndrome |
|
Chorea, Hyperactivity, Involuntary movements, Apraxia, Clumsiness, Myoclonus, Choreoathetosis, In... |
ORPHA:209905 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Emotional lability, Tremor, Irritability, Decreased serum zinc |
OMIM:201100 |
| Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Parkinsonism, Rigidity, Limb dystonia, Eyelid apraxia, Apathy, Axial dystonia, Tremo... |
OMIM:601104 |
| Neuroleptic Malignant Syndrome |
|
Chorea, Hyperphosphatemia, Hyperuricemia, Anxiety, Oculogyric crisis, Hyperkalemia, Agitation, El... |
ORPHA:94093 |
| Metachromatic Leukodystrophy |
|
Progressive spasticity, Incoordination, Ataxia, Emotional lability, Addictive behavior, Tremor, F... |
ORPHA:512 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:424 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Myoclonic spasms, Hypertonia, Dysphagia, Lower limb spasticity, Clon... |
ORPHA:447997 |
