Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
trafficking protein, kinesin binding 1
Synonyms:
2310001H13Rik,  hyrt

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Trak1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Trak1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Limb hypertonia, Unsteady gait, ... ORPHA:442835
Developmental And Epileptic Encephalopathy 68
Clonus, Exaggerated startle response, Myoclonus, Spasticity OMIM:618201

The table below shows human diseases predicted to be associated to Trak1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Frequent falls, Paroxysmal choreoathetosis, Babinski sign OMIM:500003
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Parkinsonism, Involuntary movements ORPHA:98934
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Rigidity, Spasticity ORPHA:385
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Myoclonus, Choreoathetosis, Spasticity OMIM:616981
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Lethargy, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Dystonia, Spasticity OMIM:613970
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Huntington Disease-Like 1
Incoordination, Chorea, Unsteady gait, Dysmetria, Rigidity OMIM:603218
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Spasticity OMIM:258501
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Myoclonus, Choreoathetosis OMIM:618497
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Chorea, Benign Familial
Chorea OMIM:215450
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Dysmetria OMIM:618501
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Oculogyric crisis, Myoclonus, Spasti... OMIM:614254
Developmental And Epileptic Encephalopathy 27
Chorea, Dystonia, Spasticity OMIM:616139
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Writer's cramp, Involuntary movements, Athetosis ORPHA:98809
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Chorea, Progressive cerebellar ataxia, Pa... ORPHA:98756
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Glutathionuria
Tremor OMIM:231950
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Spinocerebellar Ataxia Type 17
Dystonia, Chorea, Gait disturbance, Abnormal pyramidal sign, Blepharospasm, Ataxia, Writer's cram... ORPHA:98759
Huntington Disease
Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Sydenham Chorea
Chorea, Unsteady gait, Hemiballismus ORPHA:306731
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Babinski sign, Intention tremor, Choreoathetosis ORPHA:98890
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Familial Infantile Bilateral Striatal Necrosis
Cogwheel rigidity, Choreoathetosis, Gait ataxia, Dystonia, Hypertonia, Spastic tetraparesis, Tetr... ORPHA:225154
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Abnormality of extrapyramidal motor function OMIM:301020
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Infantile Convulsions And Choreoathetosis
Dystonia, Chorea, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Choreoathetosis ORPHA:31709
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Ataxia, Involuntary movements OMIM:617804
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Abnormal pyramidal sign, Choreoathetosis OMIM:601042
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Dyskinesia, Familial, With Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Dystonia OMIM:606703
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypertonia, He... OMIM:618877
Pontocerebellar Hypoplasia, Type 2D
Chorea, Spastic tetraplegia, Clonus OMIM:613811
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Abnormal posturing, Chorea, Slurred speech, Poor fine mo... ORPHA:157941
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Limb hypertonia, Oculogyric ... ORPHA:238455
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... ORPHA:401820
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... OMIM:617672
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Upper limb spasticity, Chorea, Hypertonia, Difficult... ORPHA:300605
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Ataxia, Myoclonus, Dysmetr... ORPHA:251347
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Leukodystrophy, Hypomyelinating, 2
Dystonia, Choreoathetosis, Spastic paraparesis, Head titubation, Ataxia, Babinski sign, Intention... OMIM:608804
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Torticollis, Babinski sign, Limb dystonia, Frequent falls, Choreoathetosis OMIM:619054
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Huntington Disease-Like 3
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... OMIM:604802
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Choreoathetosis, Babinski sign OMIM:612233
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Parkinsonism, Motor tics OMIM:615483
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, ... ORPHA:225147
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Lower limb spasticity, Fre... OMIM:604391
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Huntington Disease
Inability to walk, Dystonia, Clumsiness, Difficulty walking, Chorea, Gait disturbance, Poor fine ... ORPHA:399
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
2,4-Dienoyl-Coa Reductase Deficiency
Tetraplegia, Dystonia, Choreoathetosis, Spasticity OMIM:616034
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Xylosidase Deficiency
Choreoathetosis OMIM:278900
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Cerebral palsy, Spasticity OMIM:618557
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Ataxia, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Lethargy, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Chorea, Hyperkinetic movements, Involuntary movements, Athetosis, Spasticity OMIM:617493
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Developmental And Epileptic Encephalopathy 1
Dystonia, Erratic myoclonus, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Choreoath... OMIM:308350
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Dystonia OMIM:615473
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Dystonia, Chorea, Babinski sign, Choreoathetosis, Spasticity OMIM:618451
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Waddling gait, Truncal ataxia ORPHA:369840
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Limb ataxia, Chorea, Poor fine motor coordination, Inte... ORPHA:95
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... ORPHA:216866
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apraxia, Ataxia, Distal se... OMIM:208920
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Abnormal posturing, Spasticity OMIM:304700
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Chorea, Hypertonia, Spastic tetraplegia, Attention deficit hyperactivity disor... OMIM:617864
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Choreoathetosis, Ataxia OMIM:618416
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Spastic hemiparesis, Slurred speech, Chorea, Abnormal pyramidal ... ORPHA:282166
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Soma... ORPHA:64753
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus... OMIM:159950
Neuroferritinopathy
Dystonia, Palatal myoclonus, Chorea, Difficulty walking, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Aceruloplasminemia
Cogwheel rigidity, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Ataxia, T... OMIM:604290
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Choreoathetosis, Spasticity OMIM:617988
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Spinocerebellar Ataxia 47
Dysmetria, Chorea, Ataxia, Spasticity OMIM:617931
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Choreoathetosis, Dystonia OMIM:312170
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Impaired pain sensation, Truncal ataxia, Impaired vibratory sensation, Parest... OMIM:164400
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Spastic tetraplegia, Choreoathetosis, Spasticity OMIM:618238
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus OMIM:609056
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Opisthotonus, Limb hypertonia, Babinski sign, Clonus, Extrapyramidal dyskinesia... OMIM:612389
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Birk-Landau-Perez Syndrome
Dystonia, Difficulty walking, Oculomotor apraxia, Ataxia, Limb hypertonia, Choreoathetosis OMIM:617595
Pettigrew Syndrome
Gait ataxia, Choreoathetosis, Spasticity OMIM:304340
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Hemiplegia/hemiparesis, Choreoathetosis ORPHA:289916
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Pandas
Tics, Chorea, Clumsiness, Attention deficit hyperactivity disorder ORPHA:66624
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Chorea, Hemiparesis, Limb hypertonia OMIM:618004
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Unsteady gai... ORPHA:485350
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait OMIM:614947
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Unsteady gait,... OMIM:617435
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ataxia, Generalized dystonia, Choreoathetosis OMIM:272300
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Spasticity OMIM:609260
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Mitochondrial Dna Depletion Syndrome 17
Chorea, Spastic tetraparesis, Hemiballismus OMIM:618567
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Parkinsonism, Limb... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Dystonia, Head tremor, Chorea, Progressive gait ataxia, Abnormal pyramidal s... OMIM:606002
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Choreoathetosis OMIM:614932
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Spasticity OMIM:300983
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Myoclonus OMIM:617235
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetraplegia, Fa... OMIM:604484
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Episodic Ataxia Type 1
Clumsiness, Hypertonia, Poor coordination, Tip-toe gait, Choreoathetosis ORPHA:37612
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... OMIM:610217
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Chorea, Athetosis OMIM:309541
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Aceruloplasminemia
Tremor, Gait ataxia, Dystonia, Akinesia, Chorea, Limb ataxia, Blepharospasm, Ataxia, Craniofacial... ORPHA:48818
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Choreoathetosis, Spasticity OMIM:617664
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Tetraparesis, Opisthotonus, Myoclonus OMIM:616672
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerat... OMIM:272750
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis OMIM:617519
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Mitochondrial Complex I Deficiency, Nuclear Type 26
Limb hypertonia, Choreoathetosis, Dystonia OMIM:618247
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Broad-based gait ORPHA:477673
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait disturbance, A... ORPHA:93952
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Difficulty walking, H... ORPHA:137898
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Metachromatic Leukodystrophy
Dystonia, Chorea, Gait disturbance, Ataxia, Spastic tetraplegia, Babinski sign, Tetraplegia OMIM:250100
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Ataxia, Brady... OMIM:615157
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... OMIM:608643
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Blepharospasm, Writer's cramp, Oromandibular dystonia, Torticollis,... OMIM:602124
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis OMIM:221950
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle ... ORPHA:309246
Hsd10 Mitochondrial Disease
Spastic tetraplegia, Choreoathetosis, Spasticity OMIM:300438
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Hypertonia, Spastic tetrapares... ORPHA:352649
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torsion dystonia, Torticollis OMIM:224500
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity OMIM:603472
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Allan-Herndon-Dudley Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Ankle cl... ORPHA:59
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Choreoathetosis ORPHA:27
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Babinski sign, Ataxia OMIM:604168
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Gait disturbance, Atax... ORPHA:96
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Spasticity ORPHA:85285
Pontocerebellar Hypoplasia, Type 8
Chorea, Spasticity OMIM:614961
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis ORPHA:330050
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Developmental And Epileptic Encephalopathy 29
Chorea, Dystonia, Blepharospasm, Spasticity OMIM:616339
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Titubation, Dysmetria ORPHA:98771
Nasu-Hakola Disease
Chorea, Oculomotor apraxia, Spasticity ORPHA:2770
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Tics, Slurred speech, Ga... ORPHA:157850
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Tremor, Dystonia, Speech apraxia, Difficulty walking, Chorea, Hyperkinetic mov... OMIM:615356
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Dystonia, Axial dystonia, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240071
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Choreoathetosis, Spasticity ORPHA:702
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Autoinflammatory Syndrome, Familial, Behcet-Like
Chorea OMIM:616744
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Impaired vibratory sensation, Abnormal pyramidal sign, Titubation, Dysmetria,... ORPHA:459056
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Developmental And Epileptic Encephalopathy 84
Dystonia, Chorea, Opisthotonus, Babinski sign, Spasticity OMIM:618792
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Progressive gait ataxia, Chorea, Progressive spastic quadriplegia, Difficul... ORPHA:309271
Hsd10 Disease, Infantile Type
Dystonia, Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperkinetic movements, Loss... ORPHA:391428
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Lower limb hypertonia, Spasticity, Babinski sign, Choreoathetosis, Upper lim... ORPHA:2524
Choreoacanthocytosis
Dystonia, Tics, Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Pr... OMIM:200150
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Dystonia, Lethargy, Ataxia OMIM:618321
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Falls, Myoclonus, I... ORPHA:209905
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Choreoathetosis ORPHA:79312
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Dystonia, Poor motor coordination, Chorea, Ataxia, Limb dystonia, Athetosis, Rigidity ORPHA:25
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Snijders Blok-Fisher Syndrome
Opisthotonus, Choreoathetosis, Spasticity OMIM:618604
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Pain insensitivity, Chorea, Ataxia, Lower limb spasticity, Stereotypy, Progres... OMIM:300260
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Rheumatic Fever
Fasciculations, Chorea, Gait disturbance, Hemiballismus ORPHA:3099
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Myoclonus, Dysmetria, Distal sensory i... OMIM:616505
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy ORPHA:70594
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... ORPHA:544254
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:52368
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Lower limb hypertonia, Limb dystonia ORPHA:319514
Glutaric Acidemia I
Dystonia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis OMIM:231670
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Parkinsonism, Myoclonus,... OMIM:137440
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Limb ataxia, Abnormal pyramidal sign, Resting tremo... ORPHA:227510
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Primary Progressive Freezing Gait
Postural tremor, Difficulty walking, Bradykinesia, Babinski sign, Clonus, Frequent falls, Rigidit... ORPHA:75567
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign ORPHA:83629
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Limb hypertonia, Unsteady gait, ... ORPHA:442835
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Dystonia, Progressive spastic quadriplegia, Choreoathetosis, Nonprogressive cerebellar ataxia ORPHA:431361
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abnormal lower ... OMIM:614298
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Impaired distal vibration sensation, Dis... ORPHA:99027
Cystathioninuria
Tremor ORPHA:212
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:98933
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Abnormal pyramidal sign, Choreoathetosis OMIM:618249
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hyper... ORPHA:445038
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Dystonia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Lesch-Nyhan Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Opisthotonus, Choreoathetosis, Spasticity OMIM:300322
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Tremor, Dystonia OMIM:617248
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Hypertonia, Tremor ORPHA:1192
Parkinson Disease, Late-Onset
Tremor, Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168600
Cimdag Syndrome
Chorea, Dystonia, Ataxia, Spasticity OMIM:619273
Nabais Sa-De Vries Syndrome, Type 2
Chorea, Dystonia, Hemiparesis OMIM:618829
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigidity, Shuf... OMIM:168601
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Ataxia, Spasticity OMIM:278700
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Stereotypy, Athetoid cerebral pa... ORPHA:522077
Leigh Syndrome With Cardiomyopathy
Dystonia, Chorea, Hypertonia, Ataxia, Involuntary movements, Spasticity ORPHA:70474
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Dystonia, Abnormality of extrapyramidal motor fun... ORPHA:79139
Progressive Supranuclear Palsy
Tremor, Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Rigidity ORPHA:683
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Choreoathetosis, Attention deficit h... ORPHA:261197
Leigh Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Hyperkinetic movements, Spastic d... ORPHA:506
Choreoacanthocytosis
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Phonic tics, Im... ORPHA:2388
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia OMIM:278760
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia OMIM:618060
Niemann-Pick Disease Type C
Tremor, Dystonia, Clumsiness, Axial dystonia, Speech apraxia, Progressive gait ataxia, Chorea, In... ORPHA:646
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Difficulty walking, Ataxia, Choreoathetosis, Broad-based gait OMIM:610978
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia ORPHA:36387
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Chorea, Tip-toe gait ORPHA:268
Perry Syndrome
Tremor, Dystonia, Akinesia, Bradykinesia, Parkinsonism, Short stepped shuffling gait, Rigidity OMIM:168605
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Alexander Disease
Tremor, Chorea, Gait disturbance, Abnormal pyramidal sign, Ataxia, Tetraplegia, Clonus, Spasticity ORPHA:58
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Limb dystonia, Rigidity, Spasticity OMIM:616840
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Congenital Disorder Of Deglycosylation
Pain insensitivity, Chorea, Hyperkinetic movements, Action tremor, Myoclonus, Dysmetria, Involunt... OMIM:615273
Chromosome 18Q Deletion Syndrome
Chorea, Tremor, Poor coordination, Broad-based gait OMIM:601808
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy ORPHA:276608
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Ataxia-Telangiectasia
Gait disturbance, Tremor, Ataxia, Spasticity ORPHA:100
De Sanctis-Cacchione Syndrome
Choreoathetosis, Ataxia, Spasticity OMIM:278800
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Difficulty walking, Limb ataxia, A... OMIM:617675
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Abnormality of pain sensati... ORPHA:447753
Classic Phenylketonuria
Hemiplegia, Tremor, Hypertonia, Paraplegia, Attention deficit hyperactivity disorder ORPHA:79254
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia OMIM:201100
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Ataxia, Spasticity OMIM:278730
Sneddon Syndrome
Hemiplegia, Tremor OMIM:182410
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Tremor, Hyperkinetic movements, Spasticity OMIM:300957
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Spastic diplegia, Spasticity ORPHA:2715
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dystonia, Choreoathetosis, Ataxia OMIM:615471
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperactivity, Gait imbalan... ORPHA:98794
Congenital Bile Acid Synthesis Defect Type 4
Tremor ORPHA:79095
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Ataxia-Telangiectasia
Tremor, Dystonia, Ataxia, Myoclonus, Choreoathetosis OMIM:208900
Amish Nemaline Myopathy
Tremor ORPHA:98902
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Difficulty walking, Parkinsonism, Fasciculations, Frequent falls ORPHA:329478
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Chorea, Hypertonia, Ataxia, Spasticity ORPHA:255210
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Oculomotor apraxia, Action tremor, L... ORPHA:404454
Typhoid
Hypertonia, Lethargy, Tremor, Ataxia ORPHA:99745
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Parki... ORPHA:199351
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Hypertonia, Rigidity, Spasticity OMIM:176500
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Sialidosis Type 1
Tremor, Gait disturbance, Slurred speech, Ataxia, Myoclonus ORPHA:812
Tay-Sachs Disease
Inability to walk, Tremor, Incoordination, Clumsiness, Dystonia, Gait disturbance, Poor fine moto... ORPHA:845
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Unilateral Polymicrogyria
Pseudobulbar paralysis, Abnormal posturing, Poor fine motor coordination, Hemiparesis, Spastic te... ORPHA:268943
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Axial dystonia, Akinesia, Bradykinesia, Parkinsonism, Falls, Limb dystoni... OMIM:601104
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia OMIM:612164
Nemaline Myopathy 5
Tremor OMIM:605355
Spondyloenchondrodysplasia
Chorea, Spasticity ORPHA:1855
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Tetraparesis, Ataxia OMIM:617186
Neuroleptic Malignant Syndrome
Oculogyric crisis, Chorea, Tremor, Extrapyramidal muscular rigidity ORPHA:94093
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z