| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Brunner Syndrome |
|
Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance |
OMIM:300615 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia, Dysphagia |
OMIM:615945 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia, Emotional lability |
OMIM:128235 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia |
OMIM:605909 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity |
ORPHA:309169 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Lim... |
ORPHA:210571 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... |
ORPHA:66624 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| 46,Xy Sex Reversal 9 |
|
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia |
OMIM:616067 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, ... |
ORPHA:71517 |
| Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting |
OMIM:619988 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
| 46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
| 46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at... |
ORPHA:101109 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia... |
OMIM:618093 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Dystonia, ... |
ORPHA:314632 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable re... |
OMIM:616710 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Urocanase Deficiency |
|
Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Tremor, Inappropriate laughter, Emotional lability, Self-mutilation |
OMIM:616269 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasti... |
OMIM:615924 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... |
OMIM:619738 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor |
OMIM:302500 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... |
OMIM:606159 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor |
OMIM:606438 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
| Necrobiosis Lipoidica |
|
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Resting tremor, Parkinsonism, Anorexia, Aggressive behavior... |
ORPHA:3077 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Dystonia, Parkinsonism with ... |
ORPHA:240085 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Oppositional defiant di... |
OMIM:619028 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis |
OMIM:260570 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Cogwheel rigidity, Progressive cerebellar a... |
OMIM:607346 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Lim... |
OMIM:233910 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hypertonia, Agita... |
OMIM:617435 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... |
OMIM:615157 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Aggressive behavior |
ORPHA:208441 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Irritability, Bradykinesia, Hy... |
OMIM:261640 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... |
OMIM:137440 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Tongue fasciculations, Fasciculations, Dysphagia, Upper motor neuron dysfunction |
ORPHA:276435 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Depression |
ORPHA:178509 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Dysphagia, Sp... |
OMIM:616795 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia |
OMIM:617916 |
| Spinocerebellar Ataxia Type 27 |
|
Aggressive behavior, Tremor, Limb ataxia, Depression, Gait ataxia, Hand tremor, Truncal ataxia |
ORPHA:98764 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Manganese Poisoning |
|
Postural tremor, Aggressive behavior, Hypersexuality, Depression, Cogwheel rigidity, Irritability... |
ORPHA:306682 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
| 46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Depre... |
OMIM:128100 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Tongue thrusting, Limb myoclonus, ... |
ORPHA:3095 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubati... |
OMIM:607483 |
| Urocanic Aciduria |
|
Action tremor, Ataxia, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Spasticity, Abnormal repetitive manneris... |
OMIM:618718 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,... |
ORPHA:79263 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... |
ORPHA:254881 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Irritability, Rigidity, Dystonia |
OMIM:615010 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia |
OMIM:168600 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Depression,... |
OMIM:300623 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Myoclonus, Dysphagia, Spastic paraparesis |
ORPHA:391417 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... |
OMIM:618877 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Myoclonus, Tongue fasciculations, Dysphagia, Frequent falls |
OMIM:159950 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... |
OMIM:618935 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... |
OMIM:617013 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... |
ORPHA:282166 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Thrombocytopenia, Sp... |
OMIM:214500 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Clumsiness, Eyelid myoclonus, Myoclonus, Dysphagia, Limb myoclonus, Frequent falls |
ORPHA:2590 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor |
OMIM:610185 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Emotional lability, Spasticity |
ORPHA:542310 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder, Depression |
ORPHA:3375 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Male pseudohermaphroditis... |
OMIM:400044 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Dysphagia |
OMIM:607734 |
| Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Poor gross m... |
ORPHA:228360 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disinhibition, ... |
OMIM:168605 |
| 46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... |
ORPHA:157846 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
| Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria, Progressive spasticity, Dysphagia, Freq... |
OMIM:210000 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal si... |
ORPHA:240071 |
| Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... |
ORPHA:79254 |
| 4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of ... |
ORPHA:289494 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Spasticity |
OMIM:607694 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Cardiorespiratory arrest |
ORPHA:280785 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Dystonia, Dysphagia |
OMIM:304700 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... |
ORPHA:167 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... |
OMIM:614298 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... |
ORPHA:363400 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, Dysphagia, Frequent f... |
OMIM:302800 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms |
OMIM:619092 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg... |
OMIM:312080 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
| Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia, Dysphagia |
OMIM:617162 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... |
ORPHA:52368 |
| Nipah Virus Disease |
|
Tremor, Myoclonus, Anorexia |
ORPHA:99825 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dysphagia |
ORPHA:683 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Myoclo... |
ORPHA:442835 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dy... |
OMIM:615530 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia |
ORPHA:99014 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Myoclonus, Dysphagia |
OMIM:168601 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... |
OMIM:614381 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... |
OMIM:617710 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... |
ORPHA:240094 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia |
OMIM:208920 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Abnormal repetitive mannerisms... |
ORPHA:457240 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Recta... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Recta... |
OMIM:233710 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity |
OMIM:616586 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, A... |
OMIM:234200 |
| Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Dystonia, Spas... |
ORPHA:2828 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Recta... |
OMIM:233690 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Granu... |
OMIM:306400 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tremor, Dysmetria, Depres... |
ORPHA:845 |
| Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus |
ORPHA:43116 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ata... |
OMIM:606002 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Mastocytosis, Arrh... |
ORPHA:2135 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
| Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ... |
ORPHA:2131 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Perianal absces... |
ORPHA:2968 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Low frustration tolerance, Comp... |
ORPHA:646 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Irritabi... |
OMIM:601104 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decerebrate rigidity, Progressive spasticity, Dystonia, Emotional... |
ORPHA:512 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
| Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Angina pectoris, Intracranial hemorrhage, Aspiration pneumoni... |
ORPHA:79318 |
