| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... |
OMIM:619491 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... |
OMIM:159900 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... |
ORPHA:401901 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... |
OMIM:620482 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Brunner Syndrome |
|
Self-injurious behavior, Low frustration tolerance, Aggressive behavior, Kinetic tremor, Impulsivity |
OMIM:300615 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Dysphagia, Tremor, Frequent falls |
OMIM:615945 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Focal dystonia, Violent behavior, Frequent falls, Chorea, Limb dystonia, ... |
ORPHA:216873 |
| Dystonia 12 |
|
Depression, Emotional lability, Tremor, Dystonia, Parkinsonism, Torticollis, Bradykinesia, Dysphagia |
OMIM:128235 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Resting tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia |
OMIM:605909 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia,... |
ORPHA:210571 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Dystonia, Involuntary movements, Choreoathetosis, Torticollis |
OMIM:620245 |
| 46,Xy Sex Reversal 9 |
|
Sex reversal, Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis |
OMIM:616067 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... |
ORPHA:66624 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia |
OMIM:224500 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... |
OMIM:604326 |
| Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting |
OMIM:619988 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Gait ataxia, Emotional lability, Limb dystonia, Parkinsonism, Craniof... |
ORPHA:71517 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Chorea, Irritability, Aggressive behavior, Lower limb spasticity, Ataxia, ... |
ORPHA:98811 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
| 46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
| 46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia,... |
ORPHA:101109 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Spinocerebellar Ataxia 48 |
|
Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski sign, Parkinsonism, At... |
OMIM:618093 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism w... |
ORPHA:314632 |
| Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... |
OMIM:616710 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Urocanase Deficiency |
|
Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia |
OMIM:276880 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Irritability, Hypertonia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
| Dystonia 23 |
|
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp |
OMIM:614860 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inappropriate laughter, Emotional lability, Tremor, Self-mutilation, Aggressive behavior |
OMIM:616269 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... |
ORPHA:99657 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... |
OMIM:615924 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| 46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal |
OMIM:614279 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Parkinsonism With Polyneuropathy |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:619279 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... |
OMIM:619738 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Depression, Myoclonus, Emotional lability, Gait ataxia, Tremor, Abnormality of extrapyramidal mot... |
OMIM:615362 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Dysphagia, Intention tremor |
OMIM:302500 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... |
ORPHA:251282 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal ... |
OMIM:213600 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Disinhibition,... |
OMIM:606159 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Huntington Disease-Like 2 |
|
Depression, Chorea, Action tremor, Irritability, Rigidity, Dystonia, Bradykinesia |
OMIM:606438 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma |
ORPHA:542592 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Frequent fal... |
ORPHA:240103 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ... |
ORPHA:314978 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Parkin... |
ORPHA:3077 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Depression, Neuromuscular dysphagia, Tremor, Rigidity, Dystonia, Parkinsonism with favorable resp... |
ORPHA:240085 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Lower limb spasticity, Ataxia, Impul... |
OMIM:619028 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... |
OMIM:617284 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Depression, Hand tremor, Chorea, Postural tremor, Parkinsonism, Motor tics, Athetosis |
OMIM:615483 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... |
ORPHA:521406 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia |
ORPHA:306669 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... |
OMIM:226990 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis |
ORPHA:363710 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi... |
OMIM:607346 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Hand tremor, Progressive extrapyramidal muscular rigidity, Torsion... |
ORPHA:53351 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy |
OMIM:619470 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,... |
OMIM:612736 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:300983 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Depression, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia... |
OMIM:615157 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Spasticity, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... |
ORPHA:325345 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Irritability, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Brad... |
OMIM:261640 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bradykinesia |
ORPHA:329284 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Ataxia |
OMIM:617917 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Dysphagia, Hyperton... |
OMIM:617435 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Gerstmann-Straussler Disease |
|
Spasticity, Depression, Limb ataxia, Myoclonus, Emotional lability, Gait ataxia, Rigidity, Tremor... |
OMIM:137440 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Perry Syndrome |
|
Parkinsonism, Depression, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia |
OMIM:620158 |
| Spinocerebellar Ataxia 42 |
|
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait,... |
OMIM:616795 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysmetria, Tremor, Lower limb spasticity, Ataxia, Dystonia, Dysphagia |
OMIM:617916 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Tremor, Ataxia |
OMIM:618637 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor |
OMIM:613608 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Spinocerebellar Ataxia Type 27 |
|
Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior, Truncal ataxia |
ORPHA:98764 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre... |
OMIM:612953 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... |
OMIM:600116 |
| Phenylketonuria |
|
Depression, Lower limb spasticity, Tremor, Ataxia |
ORPHA:716 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Dysphagia, Tremor, Fasciculations |
ORPHA:276435 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... |
ORPHA:397946 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... |
OMIM:617145 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, ... |
ORPHA:99750 |
| Manganese Poisoning |
|
Depression, Inappropriate laughter, Postural tremor, Cogwheel rigidity, Emotional lability, Irrit... |
ORPHA:306682 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Aggressive behavior, Parki... |
OMIM:606693 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Tremor, Dysmetria, Rigidity, Hyperactivity |
OMIM:618090 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... |
OMIM:608768 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Titubation |
OMIM:619405 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Tremor, Babinski sign, Torticollis, Hypertonia, ... |
OMIM:128100 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Head tremor, Limb ataxia, Dys... |
ORPHA:276198 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Han... |
ORPHA:3095 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... |
ORPHA:79263 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Spasticity, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal... |
OMIM:618718 |
| Spinocerebellar Ataxia With Epilepsy |
|
Depression, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive ... |
ORPHA:254881 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia |
OMIM:213200 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Frequent falls, Myoclonus, Tremor, Clumsiness, Eyelid myoclonus, Dysphagia |
ORPHA:2590 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis |
OMIM:618049 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Tremor, Fasciculations |
OMIM:313200 |
| Urocanic Aciduria |
|
Truncal ataxia, Gait ataxia, Action tremor, Ataxia |
ORPHA:210128 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bruxism, Emotional lability, Tremor, Dys... |
OMIM:300055 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Dystonia, Dysphagia, Cho... |
OMIM:233910 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Progressive spastic quadriplegia,... |
ORPHA:309246 |
| Fragile X Tremor/Ataxia Syndrome |
|
Depression, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Obsessive-compulsive tra... |
OMIM:300623 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Frequent falls, Chorea, Cogwheel rigidity, Action tremor, Gait ... |
OMIM:607483 |
| Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Rigidity, Tremor, Irritability |
OMIM:615010 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Hsd10 Disease |
|
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Ataxia, Dysphagia, Choreoathetosis |
ORPHA:391417 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:542310 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... |
OMIM:618877 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Increased proportion of CD25+ mast cells, Hepatosplenom... |
ORPHA:98850 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Frequent falls, Myoclonus, Tremor, Dysphagia |
OMIM:159950 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Irritability, Dystonia, Opisthotonus, Pa... |
OMIM:617013 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... |
OMIM:609270 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Multiple System Atrophy, Parkinsonian Type |
|
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... |
ORPHA:98933 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Chorea, ... |
ORPHA:282166 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia |
OMIM:619911 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis |
OMIM:610185 |
| Parkinson Disease, Late-Onset |
|
Depression, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Dysphagia |
OMIM:168600 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Aggressive behavior, Parkinsonism, Bradykinesia |
OMIM:300894 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Tremor, Ataxia |
OMIM:614018 |
| 46,Xy Sex Reversal 1 |
|
Abnormal male external genitalia morphology, Gonadal dysgenesis, Abnormal female external genital... |
OMIM:400044 |
| Multiple System Atrophy, Cerebellar Type |
|
Depression, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, A... |
ORPHA:227510 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Dysphagia, Tremor |
OMIM:607734 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi... |
OMIM:214500 |
| 46,Xy Sex Reversal 6 |
|
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... |
OMIM:613762 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnormal pyram... |
ORPHA:391411 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Spastic paraparesis, Hemiplegia, Spastic diplegia, Emotional lability, T... |
ORPHA:206443 |
| Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Emotion... |
ORPHA:157846 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's... |
ORPHA:420492 |
| Spinocerebellar Ataxia 2 |
|
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... |
OMIM:183090 |
| Behr Syndrome |
|
Frequent falls, Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity,... |
OMIM:210000 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... |
ORPHA:98773 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Depression, Oculogyric crisis, Resting tremor, Cogwheel rigidity, Rigidity... |
ORPHA:97349 |
| Perry Syndrome |
|
Depression, Inappropriate behavior, Tremor, Disinhibition, Rigidity, Dystonia, Parkinsonism, Brad... |
OMIM:168605 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Depression, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactiv... |
ORPHA:79254 |
| 4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni... |
OMIM:618986 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto... |
ORPHA:240071 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia, Dysphagia |
OMIM:607694 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis |
OMIM:614831 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... |
OMIM:618935 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Depression, Myoclonus, Tremor, Rigidity... |
ORPHA:199351 |
| Mohr-Tranebjaerg Syndrome |
|
Dystonia, Spasticity, Dysphagia, Tremor |
OMIM:304700 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls |
OMIM:616719 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... |
ORPHA:352649 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... |
ORPHA:36387 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... |
ORPHA:98849 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia, Tremor,... |
ORPHA:363400 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Abnormality of extrapyr... |
OMIM:614298 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand tremor, Frequent falls, Incoordination, Dysmetria, Tremor, Babinski sign, Paraparesis, Dysph... |
OMIM:302800 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Depression, Emotional lability, Tremor, Irritability, Rigidity, Dystonia, Bradykin... |
ORPHA:683 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Depression, Generalized dystonia, Intention tremor, Tremor, Progressive spast... |
OMIM:312080 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Gait ataxia, Tremor, Hypertonia, Ataxia, Motor stereotypy |
OMIM:619092 |
| Nipah Virus Disease |
|
Myoclonus, Tremor, Anorexia |
ORPHA:99825 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Depression, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyper... |
OMIM:612716 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Developmental And Epileptic Encephalopathy 46 |
|
Dysphagia, Limb hypertonia, Tremor |
OMIM:617162 |
| Chédiak-Higashi Syndrome |
|
Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m... |
ORPHA:167 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... |
ORPHA:96 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia |
ORPHA:1578 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Dysphagia, Tremor |
OMIM:619790 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Ankle clonus, Babinski sign, Attention deficit hyperactivity disord... |
ORPHA:52368 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... |
OMIM:613280 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor, Rigidity, Atte... |
ORPHA:442835 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
| Parkinson Disease 20, Early-Onset |
|
Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Eyelid apraxia, Dy... |
OMIM:615530 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... |
OMIM:617710 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Oculogyric crisis, Tremor, Irritability, Babinski sign, Limb hypertonia, Dystonia, Dysphagia |
ORPHA:35708 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... |
OMIM:614381 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Self-mutilation, Tremor, Hyperkinetic movements, Motor stereotypy, Upper limb spasticity |
ORPHA:457240 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Dystonia |
OMIM:208920 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
| Parkinson Disease 1, Autosomal Dominant |
|
Depression, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Dysphagia |
OMIM:168601 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Resting tremor, Gait ataxia, Intention tremor, Rigidity, Babinski sign, Parkinsonism,... |
ORPHA:247234 |
| Waisman Syndrome |
|
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... |
OMIM:311510 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia |
OMIM:616586 |
| Young-Onset Parkinson Disease |
|
Spasticity, Depression, Restless legs, Agitation, Tremor, Rigidity, Dystonia, Bradykinesia, Impul... |
ORPHA:2828 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Blepharospasm, Spasticity, Depression, Obsessive-compulsive trait, Tremor, Rigidity,... |
OMIM:234200 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| Hereditary Late-Onset Parkinson Disease |
|
Depression, Resting tremor, Frequent falls, Low frustration tolerance, Agitation, Rigidity, Dysto... |
ORPHA:411602 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... |
OMIM:400045 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233710 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233690 |
| Tay-Sachs Disease |
|
Depression, Decerebrate rigidity, Laryngeal dystonia, Incoordination, Frequent falls, Fasciculati... |
ORPHA:845 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... |
ORPHA:48818 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
| Serotonin Syndrome |
|
Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hypertonia, Restlessness, Agitation |
ORPHA:43116 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Hypertonia, Tremor |
OMIM:250800 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chorea, Head tremor, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... |
OMIM:606002 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem... |
ORPHA:99027 |
| Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:306400 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Oral-pharyngeal dysphagia, Tetraparesis, Episodic hemiplegia, Chorea, Emotional lability,... |
ORPHA:2131 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Arrhythmia, Telangiectasia of the skin, Mastocytosis |
ORPHA:2135 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:618527 |
| Niemann-Pick Disease Type C |
|
Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Dysphagia, Depres... |
ORPHA:646 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Axial dystonia, Retrocollis, Irritability, Rigidity, Tremor, Parkinsonism, Bradyki... |
OMIM:601104 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum... |
ORPHA:811 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... |
ORPHA:2968 |
| Metachromatic Leukodystrophy |
|
Addictive behavior, Decerebrate rigidity, Incoordination, Emotional lability, Tremor, Ataxia, Dys... |
ORPHA:512 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
| Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Angina pectoris, Impaired neutrophil chemotaxis, Intracranial hemorr... |
ORPHA:79318 |
