Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
Chorea, Benign Hereditary |
|
Chorea, Gait disturbance, Frequent falls |
OMIM:118700 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... |
ORPHA:98810 |
Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... |
OMIM:619565 |
Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis |
OMIM:125370 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... |
ORPHA:98811 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis |
ORPHA:98809 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl... |
OMIM:500003 |
Huntington Disease-Like 2 |
|
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Dystonia |
ORPHA:98934 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia |
OMIM:617018 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... |
OMIM:213600 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Episodic Kinesigenic Dyskinesia 3 |
|
Dystonia, Involuntary movements, Choreoathetosis, Torticollis |
OMIM:620245 |
Dystonia 37, Early-Onset, With Striatal Lesions |
|
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... |
OMIM:620427 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Gait disturba... |
OMIM:616981 |
3-Methylglutaconic Aciduria, Type Iii |
|
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:258501 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
Choreoathetosis, Familial Inverted |
|
Gait disturbance, Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity |
OMIM:118750 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis |
ORPHA:31709 |
Huntington Disease-Like 1 |
|
Incoordination, Chorea, Dysmetria, Rigidity, Unsteady gait |
OMIM:603218 |
Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... |
ORPHA:397946 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance |
OMIM:607674 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea |
OMIM:616939 |
Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Falls, Chorea, Ataxia, Dystonia, Paroxysmal dyskinesia |
OMIM:619150 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, Pos... |
OMIM:607136 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... |
ORPHA:71277 |
Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia |
OMIM:618093 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... |
ORPHA:53351 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Chorea, Inability to walk |
OMIM:618760 |
Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia |
OMIM:618501 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki... |
OMIM:618317 |
Spinocerebellar Ataxia Type 2 |
|
Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, Kinetic tremor, Dystonia, Pro... |
ORPHA:98756 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia 50 |
|
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia |
OMIM:620158 |
Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait di... |
ORPHA:363710 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
Developmental And Epileptic Encephalopathy 17 |
|
Dystonia, Chorea, Athetosis, Inability to walk |
OMIM:615473 |
Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Abnormal pyrami... |
ORPHA:98759 |
Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Dystonia 23 |
|
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp |
OMIM:614860 |
Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations |
OMIM:615048 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
Juvenile Huntington Disease |
|
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Ataxia, Bradykinesia, Progr... |
ORPHA:248111 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Hand tremor, Postural tremor, Chorea, Parkinsonism, Athetosis |
OMIM:615483 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Huntington Disease |
|
Chorea, Gait ataxia, Bradykinesia, Rigidity |
OMIM:143100 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia |
ORPHA:67047 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Sydenham Chorea |
|
Chorea, Hemiballismus, Unsteady gait |
ORPHA:306731 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... |
OMIM:613908 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At... |
ORPHA:79263 |
Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... |
ORPHA:454887 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Dyst... |
ORPHA:13 |
Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia |
OMIM:104290 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
Guanidinoacetate Methyltransferase Deficiency |
|
Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapyramidal motor functio... |
ORPHA:382 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb spasticity, Oculomo... |
OMIM:604391 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Truncal ataxia, Choreoathetosis |
OMIM:616230 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... |
OMIM:617284 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis |
OMIM:118800 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... |
ORPHA:300605 |
Infantile Dystonia-Parkinsonism |
|
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... |
ORPHA:238455 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis |
OMIM:614820 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Inability to walk, Chorea, Rigidity, Abnormality of extrapyramidal motor function, Pa... |
OMIM:617672 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal sensory impairment, Tremor |
OMIM:614369 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Clonus, Spastic tetraplegia, Appendicular spasticity |
OMIM:613811 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... |
ORPHA:53583 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
Huntington Disease-Like 2 |
|
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia |
OMIM:606438 |
Huntington Disease-Like 1 |
|
Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... |
ORPHA:157941 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
Gordon Holmes Syndrome |
|
Chorea, Ataxia |
OMIM:212840 |
Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
Developmental And Epileptic Encephalopathy 27 |
|
Dystonia, Myoclonus, Spasticity, Chorea |
OMIM:616139 |
Huntington Disease-Like 3 |
|
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... |
ORPHA:157946 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:128200 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation... |
OMIM:617282 |
Ataxia-Telangiectasia-Like Disorder |
|
Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dystonia... |
ORPHA:251347 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab... |
OMIM:610245 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... |
ORPHA:500180 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Chorea, Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Loss of ambulation, Oculomot... |
OMIM:208920 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Hemiplegia, Cho... |
ORPHA:225147 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Spasticity, Chorea, Cerebral palsy |
OMIM:618557 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... |
OMIM:607483 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Babinski sign... |
OMIM:128100 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Spasticity, Oculogyric crisis, Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Dyst... |
OMIM:614254 |
Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... |
OMIM:619725 |
Huntington Disease-Like 3 |
|
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Unsteady gait, Abnormal pyramid... |
OMIM:604802 |
Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia |
OMIM:128235 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor |
OMIM:302500 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... |
ORPHA:521406 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Dystonia, Athetosis |
OMIM:617493 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Choreoathetosis, Parkinsonism |
OMIM:616413 |
Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis |
OMIM:619317 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
Huntington Disease |
|
Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ... |
ORPHA:399 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... |
ORPHA:98763 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Gait imbalance, Dysmetria... |
ORPHA:98755 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Chorea, Athetosis, Choreoathetosis |
OMIM:309541 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... |
OMIM:615528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... |
OMIM:300423 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... |
ORPHA:101109 |
Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
Mepan Syndrome |
|
Spasticity, Hemidystonia, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Craniofacial dystonia... |
ORPHA:508093 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... |
ORPHA:276435 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... |
OMIM:606777 |
Striatonigral Degeneration, Infantile |
|
Dystonia, Spasticity, Choreoathetosis |
OMIM:271930 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor |
OMIM:613608 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... |
ORPHA:391411 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Inability to walk, Chorea, Gait ataxia, Dystonia |
OMIM:618917 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dystonia... |
OMIM:618088 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... |
ORPHA:2590 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Spasticity, Cerebral palsy, Chorea, Babinski sign, Hypertonia, Dystonia, Choreoathetosis |
OMIM:618451 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Friedreich Ataxia |
|
Spasticity, Falls, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dysmetr... |
ORPHA:95 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... |
ORPHA:284324 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Abnormal posturing, Generalized dystonia, Tip-toe gait, Inability to walk, Opisthoton... |
ORPHA:216866 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Dystonia, Chorea, Athetosis, Spastic tetraplegia |
OMIM:619922 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101075 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... |
OMIM:617145 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Chorea, Paresthesia, Dysmetria, Abnormal pyramidal sign, Ataxia, Intention tremor |
ORPHA:48431 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Spasticity, Abnormal posturing, Tremor |
OMIM:304700 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Spastic tetraparesis, Difficulty walking, Chorea, Hypertonia, Ataxia, Dystonia |
ORPHA:79097 |
Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia |
OMIM:614018 |
Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... |
ORPHA:157846 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Truncal ataxia, Chorea, Waddling gait |
ORPHA:369840 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... |
OMIM:616710 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Tremor, Distal sensory impairment, Dysmetria, Steppage gait, Ataxia |
OMIM:618387 |
Schimke Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis |
OMIM:616291 |
Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Athetosis, Myoclonus |
OMIM:617235 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... |
ORPHA:101077 |
Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Dystonia, Babinski... |
ORPHA:225154 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Tremor, Waddling gait |
OMIM:616269 |
Aceruloplasminemia |
|
Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Torticoll... |
OMIM:604290 |
Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance |
OMIM:618090 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101078 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
Early-Onset X-Linked Optic Atrophy |
|
Gait ataxia, Intention tremor, Babinski sign, Dysdiadochokinesis, Choreoathetosis |
ORPHA:98890 |
Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
Sneddon Syndrome |
|
Chorea, Tremor, Hemiparesis |
ORPHA:820 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... |
ORPHA:282166 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal choreoathetosis, Paroxysmal dystonia |
OMIM:602066 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Spastic paraplegia, Inability to walk, Babinski sign, Ataxia, Choreoathetosis |
OMIM:619735 |
Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... |
ORPHA:98764 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... |
ORPHA:240103 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathetosis |
OMIM:301020 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Shuffling gait, Gait ataxia, Intention tremor, Dysmetria, Abnormal pyramidal si... |
OMIM:617964 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... |
ORPHA:99750 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia |
OMIM:619028 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... |
OMIM:618877 |
Spinocerebellar Ataxia 47 |
|
Spasticity, Chorea, Dysmetria, Ataxia |
OMIM:617931 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... |
ORPHA:71517 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Chorea, Myoclonus, Lower limb spasticity, Unsteady gait, Upper lim... |
ORPHA:485350 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Chorea, Lower limb spasticity, Gait ataxia, Waddling gait |
OMIM:620445 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
Spinocerebellar Ataxia 29 |
|
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... |
OMIM:117360 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Chorea, Limb a... |
OMIM:164400 |
Baker-Gordon Syndrome |
|
Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cere... |
OMIM:618218 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
Dystonia 9 |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis |
OMIM:601042 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Limb ataxia, Gait ataxia, Paresthesia, Tremor, Distal sensor... |
OMIM:616719 |
Birk-Aharoni Syndrome |
|
Inability to walk, Chorea, Spastic tetraplegia |
OMIM:620071 |
Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... |
OMIM:615673 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... |
OMIM:609270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Limb dystonia, Babinski sign, Torticollis, Ataxia, Frequent falls, Choreoathetosis |
OMIM:619054 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Spasticity, Generalized dystonia, Inability to walk, Chorea, Ataxia |
ORPHA:70472 |
Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... |
OMIM:616795 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Tremor, Distal sensory impairment, Babinski sign, Steppage gait, Hypertonia |
OMIM:609260 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... |
OMIM:619911 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Dystonia, Spasticity, Choreoathetosis |
OMIM:614249 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Chorea, Choreoathetosis, Hemiplegia/hemiparesis |
ORPHA:289916 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... |
ORPHA:280219 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Generalized dystonia, Inability to walk, Dystonia, Opisthotonus, Parkinsonism, Apraxi... |
OMIM:619653 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia |
OMIM:617270 |
Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... |
OMIM:606002 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant... |
OMIM:159950 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Dystonia, Spasticity, Chorea |
OMIM:613970 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Hyperkinetic movements, Truncal ataxia, Chorea, Difficulty walking |
ORPHA:369847 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Myoclonus, Choreoathetosis, Spastic tetraparesis |
OMIM:617065 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... |
OMIM:606693 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
Hsd10 Disease |
|
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis |
ORPHA:391417 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... |
ORPHA:48818 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia |
ORPHA:99014 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Distal sensory ... |
OMIM:302800 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia |
OMIM:617810 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... |
ORPHA:420492 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... |
OMIM:617013 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Broad-based gait |
OMIM:619470 |
Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia |
OMIM:612126 |
Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, Loss of ambulation, ... |
ORPHA:137898 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Apr... |
ORPHA:93952 |
Metachromatic Leukodystrophy |
|
Chorea, Babinski sign, Gait disturbance, Tetraplegia, Ataxia, Dystonia, Spastic tetraplegia |
OMIM:250100 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... |
ORPHA:98773 |
Leukodystrophy, Hypomyelinating, 2 |
|
Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Dystonia... |
OMIM:608804 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... |
OMIM:261640 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T... |
ORPHA:90117 |
Leukodystrophy, Hypomyelinating, 4 |
|
Spastic paraplegia, Babinski sign, Head titubation, Progressive spasticity, Choreoathetosis |
OMIM:612233 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Paroxysmal dystonia, Hemiparesis, Limb hypertonia, Dystonia |
OMIM:618004 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
Dystonia 34, Myoclonic |
|
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia |
OMIM:619724 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Atypical Rett Syndrome |
|
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... |
ORPHA:3095 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Involuntary movements, Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis |
OMIM:615905 |
Pontocerebellar Hypoplasia, Type 2B |
|
Spasticity, Chorea, Opisthotonus, Babinski sign, Clonus, Limb hypertonia, Dystonia, Extrapyramida... |
OMIM:612389 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, Hypertonia... |
OMIM:610217 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis |
OMIM:618497 |
Charcot-Marie-Tooth Disease And Deafness |
|
Distal sensory impairment, Gait disturbance, Steppage gait, Tremor |
OMIM:118300 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle response, ... |
ORPHA:309246 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai... |
OMIM:617435 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Head tremor, Postural tremor, Gait imbalance, Babinski sign, Abnorma... |
ORPHA:64753 |
Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Spasticity, Inability to walk, Chorea, Hypertonia, Exaggerated startle response, Spastic tetraplegia |
OMIM:617864 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia |
OMIM:603472 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Hypertonia, Ataxia, Dystonia, Athetosis |
ORPHA:52503 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... |
OMIM:183090 |
Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... |
ORPHA:96 |
Spinocerebellar Ataxia With Epilepsy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... |
ORPHA:254881 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic movements, At... |
OMIM:615356 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Spasticity, Choreoathetosis |
OMIM:308950 |
Gm2-Gangliosidosis, Ab Variant |
|
Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle... |
OMIM:272750 |
Nasu-Hakola Disease |
|
Spasticity, Oculomotor apraxia, Chorea |
ORPHA:2770 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... |
ORPHA:459056 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Babinski sign, Chorea, Ataxia |
OMIM:604168 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Dystonia, Tremor, Rigidity |
OMIM:615010 |
Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... |
ORPHA:206443 |
Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... |
OMIM:612953 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Spasticity, Chorea |
OMIM:620149 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins... |
OMIM:300055 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia |
ORPHA:542310 |
Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... |
OMIM:615530 |
Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... |
OMIM:312080 |
Pontocerebellar Hypoplasia, Type 8 |
|
Involuntary movements, Spasticity, Chorea, Gait ataxia, Hypertonia |
OMIM:614961 |
Pandas |
|
Clumsiness, Chorea |
ORPHA:66624 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... |
ORPHA:240071 |
Systemic Lupus Erythematosus 17 |
|
Chorea |
OMIM:301080 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... |
ORPHA:206594 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
Metachromatic Leukodystrophy, Adult Form |
|
Spasticity, Decerebrate rigidity, Difficulty walking, Chorea, Progressive spastic quadriplegia, P... |
ORPHA:309271 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Impaired distal vibration sensation, Postural tremor, Gait ataxia, Action tremor,... |
OMIM:300623 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
Developmental And Epileptic Encephalopathy 29 |
|
Blepharospasm, Spasticity, Chorea, Limb dystonia |
OMIM:616339 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:245348 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
ORPHA:329284 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia |
OMIM:607694 |
D-Glyceric Aciduria |
|
Myoclonus, Spasticity, Chorea |
ORPHA:941 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Inability to walk, Chorea, Rigidity, Lower limb spasticity, Ataxia, Progressi... |
OMIM:300260 |
Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... |
OMIM:613280 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
Developmental And Epileptic Encephalopathy 84 |
|
Spasticity, Chorea, Opisthotonus, Babinski sign, Dystonia |
OMIM:618792 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis |
ORPHA:25 |
Peroxisome Biogenesis Disorder 5B |
|
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
Foxg1 Syndrome |
|
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, C... |
ORPHA:561854 |
Developmental Delay, Dysmorphic Facies, And Brain Anomalies |
|
Chorea |
OMIM:620535 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Distal sensory impairment, Babinski sign, Steppage gai... |
OMIM:616505 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron mor... |
OMIM:601162 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal ... |
OMIM:614298 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Dystonia, Frequent falls, Choreoathetosis, Ataxia |
OMIM:618416 |
4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
Pontocerebellar Hypoplasia, Type 2A |
|
Dystonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia |
OMIM:277470 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Dystonia, Spasticity, Spastic tetraplegia, Choreoathetosis |
OMIM:618238 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis |
OMIM:233910 |
Saccharopinuria |
|
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia |
ORPHA:3124 |
Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... |
OMIM:619574 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Dystonia |
OMIM:616672 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Myoclonus, Cerebral palsy |
OMIM:617600 |
Rheumatic Fever |
|
Chorea, Gait disturbance, Hemiballismus, Fasciculations |
ORPHA:3099 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, Ataxia |
OMIM:619092 |
Brain-Lung-Thyroid Syndrome |
|
Involuntary movements, Falls, Incoordination, Chorea, Myoclonus, Intention tremor, Clumsiness, Ap... |
ORPHA:209905 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:300894 |
Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... |
ORPHA:52368 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia |
ORPHA:529665 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... |
ORPHA:765 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Ataxia, Dystonia, Spastic tetraplegia |
OMIM:618321 |
Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... |
OMIM:137440 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... |
ORPHA:442835 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Abnormal pyramidal sign, Hypertonia, Spastic tetraparesis, Erratic myoclonus, Choreoath... |
OMIM:308350 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia, Tremor,... |
ORPHA:363400 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Dystonia, Chorea, Hemiparesis |
OMIM:618829 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Choreoathetosis, Hypertonia, Rigidity |
OMIM:620023 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance |
ORPHA:83629 |
Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsoni... |
OMIM:168601 |
Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Involuntary movements, Inability to walk, Chorea, Ataxia, Dystonia |
OMIM:617804 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
Ritscher-Schinzel Syndrome 4 |
|
Chorea, Athetosis, Ataxia |
OMIM:619435 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... |
ORPHA:99027 |
Cimdag Syndrome |
|
Dystonia, Spasticity, Chorea, Ataxia |
OMIM:619273 |
Perry Syndrome |
|
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:168605 |
Alternating Hemiplegia Of Childhood |
|
Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oculomotor ... |
ORPHA:2131 |
Episodic Ataxia Type 1 |
|
Tip-toe gait, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis |
ORPHA:37612 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Tremor, Dystonia, Choreoathetosis |
OMIM:617664 |
Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:168600 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Ataxia |
OMIM:607876 |
Allan-Herndon-Dudley Syndrome |
|
Spasticity, Abnormality of extrapyramidal motor function, Ankle clonus, Babinski sign, Abnormal p... |
ORPHA:59 |
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 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Leukoencephalopathy With Ataxia |
|
Limb ataxia, Gait ataxia, Action tremor |
OMIM:615651 |
Rett Syndrome, Congenital Variant |
|
Spasticity, Chorea, Apraxia, Dystonia, Athetosis |
OMIM:613454 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis |
OMIM:612164 |
Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
Leigh Syndrome |
|
Spasticity, Involuntary movements, Chorea, Abnormality of extrapyramidal motor function, Hyperkin... |
ORPHA:506 |
Perry Syndrome |
|
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Dystonia, Limb hypertonia, Choreoathetosis |
OMIM:618247 |
Alexander Disease |
|
Spasticity, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, Gait disturbance, Ataxia |
ORPHA:58 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Niemann-Pick Disease Type C |
|
Cataplexy, Speech apraxia, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Tremor, Progressive ... |
ORPHA:646 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Chorea, Tip-toe gait |
ORPHA:268 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Choreoacanthocytosis |
|
Blepharospasm, Poor motor coordination, Involuntary movements, Impaired vibratory sensation, Fall... |
ORPHA:2388 |
Mcleod Syndrome |
|
Dystonia, Chorea, Impaired vibration sensation at ankles |
OMIM:300842 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Babinski sign, Limb hypertonia, Limb ... |
OMIM:608643 |
Chromosome 18Q Deletion Syndrome |
|
Chorea, Poor coordination, Tremor, Broad-based gait |
OMIM:601808 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa... |
ORPHA:522077 |
Snijders Blok-Fisher Syndrome |
|
Opisthotonus, Spasticity, Choreoathetosis |
OMIM:618604 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Myopathy, Mitochondrial, And Ataxia |
|
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Distal sensory impairment,... |
OMIM:617675 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Inability to walk, Gait ataxia, Appendicular spasticity, Dysmetria, Tremor, Dys... |
OMIM:617988 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal... |
ORPHA:447753 |
Amyloidosis, Hereditary Systemic 1 |
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Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... |
OMIM:105210 |
Progressive Supranuclear Palsy |
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Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia |
ORPHA:683 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Tremor, Dysmetria |
OMIM:615578 |
Pelizaeus-Merzbacher Disease |
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Spasticity, Gait disturbance, Ataxia, Dystonia, Choreoathetosis |
ORPHA:702 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Ataxia, Paraparesis, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Pantothenate Kinase-Associated Neurodegeneration |
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Spasticity, Tip-toe gait, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Abnormality of... |
ORPHA:157850 |
Congenital Disorder Of Deglycosylation 1 |
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Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkine... |
OMIM:615273 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Inability to walk, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, Oculomotor apraxia, ... |
ORPHA:404454 |
Tay-Sachs Disease |
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Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fasciculations, Inability to walk, Myoc... |
ORPHA:845 |
Unilateral Polymicrogyria |
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Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti... |
ORPHA:268943 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Spasticity, Chorea, Gait ataxia, Hypertonia, Ataxia, Dystonia |
ORPHA:255210 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:618527 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... |
OMIM:612716 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abn... |
OMIM:234200 |
Adult-Onset Dystonia-Parkinsonism |
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Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... |
ORPHA:199351 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal ataxia, Choreoathetosis |
OMIM:618249 |
Developmental And Epileptic Encephalopathy 100 |
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Gait ataxia, Chorea, Myoclonus, Choreoathetosis |
OMIM:619777 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Tremor, Distal sensory impairme... |
ORPHA:99956 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Opisthotonus, Hypertonia, Tremor |
OMIM:250800 |
3-Methylglutaconic Aciduria Type 7 |
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Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnormal pyram... |
ORPHA:445038 |
Nmda Receptor Encephalitis |
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Involuntary movements, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Opisthotonus, Dystonia, Ch... |
ORPHA:217253 |
O'Sullivan-Mcleod Syndrome |
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Tremor, Fasciculations |
ORPHA:99965 |
Young-Onset Parkinson Disease |
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Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia |
ORPHA:2828 |
Catastrophic Antiphospholipid Syndrome |
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Chorea |
ORPHA:464343 |
Glutaric Acidemia I |
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Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spastic diplegia |
OMIM:231670 |
Spondyloenchondrodysplasia |
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Spasticity, Chorea |
ORPHA:1855 |
Supranuclear Palsy, Progressive, 1 |
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Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... |
OMIM:601104 |
Neuroleptic Malignant Syndrome |
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Extrapyramidal muscular rigidity, Chorea, Oculogyric crisis, Tremor |
ORPHA:94093 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Periodic paralysis, Tremor |
OMIM:613239 |
Ataxia-Telangiectasia |
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Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slu... |
OMIM:208900 |
Multiple System Atrophy 1, Susceptibility To |
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Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
Metachromatic Leukodystrophy |
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Decerebrate rigidity, Tip-toe gait, Incoordination, Tremor, Gait disturbance, Ataxia, Dystonia, P... |
ORPHA:512 |
Lesch-Nyhan Syndrome |
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Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus, Dystonia, Choreoathetosis |
OMIM:300322 |
Tyrosinemia Type 2 |
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Tremor, Ataxia |
ORPHA:28378 |
Holoprosencephaly |
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Dystonia, Spasticity, Chorea |
ORPHA:2162 |
Xeroderma Pigmentosum, Complementation Group A |
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Spasticity, Choreoathetosis, Distal sensory impairment, Ataxia |
OMIM:278700 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
Menkes Disease |
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Spasticity, Chorea, Hypertonia |
ORPHA:565 |
Vici Syndrome |
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Abnormal posturing |
OMIM:242840 |
Xeroderma Pigmentosum, Complementation Group D |
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Spasticity, Choreoathetosis, Ataxia |
OMIM:278730 |
Primary Sjögren Syndrome |
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Chorea, Somatic sensory dysfunction |
ORPHA:289390 |
Brucellosis |
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Chorea |
ORPHA:1304 |
Developmental And Epileptic Encephalopathy 68 |
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Spasticity, Myoclonus, Clonus, Exaggerated startle response |
OMIM:618201 |
Systemic Lupus Erythematosus |
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Chorea |
ORPHA:536 |