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Gene: Trak1 MGI:1914345

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Registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia ORPHA:98809
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia ORPHA:98934
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... ORPHA:216873
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:258501
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria OMIM:603218
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Chorea, Benign Familial
Chorea OMIM:215450
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Chorea, Poor coordination, Falls, Dystonia, Paroxysmal dyskinesia OMIM:619150
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ... OMIM:607136
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Dystonia OMIM:618760
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia OMIM:618501
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... ORPHA:98756
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Chorea, Dystonia OMIM:615473
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... ORPHA:98759
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis OMIM:615483
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Sydenham Chorea
Chorea, Unsteady gait, Hemiballismus ORPHA:306731
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis OMIM:104290
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... ORPHA:13
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Dystonia 16
Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal si... OMIM:612067
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Progressive ex... ORPHA:382
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... OMIM:604391
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus OMIM:616230
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia OMIM:613811
Huntington Disease-Like 3
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... OMIM:604802
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... ORPHA:300605
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... ORPHA:238455
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o... OMIM:617672
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... ORPHA:157941
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonus, Spasticity, Dystonia OMIM:616139
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progressive ... ORPHA:157946
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... ORPHA:251347
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... ORPHA:225147
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma... ORPHA:500180
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Cerebral palsy, Spasticity OMIM:618557
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasti... OMIM:614254
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre... ORPHA:98755
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity OMIM:617493
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism OMIM:616413
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Chorea OMIM:309541
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:619317
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni... ORPHA:508093
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia OMIM:271930
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Loss of ambul... OMIM:618088
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity OMIM:618917
Friedreich Ataxia
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... ORPHA:95
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity OMIM:618451
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Chorea, Spastic tetraplegia, Dystonia OMIM:619922
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Difficulty walking, Dystonia ORPHA:79097
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Tip-toe gait, Gait dis... ORPHA:216866
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d... ORPHA:157846
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing, Dystonia OMIM:304700
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus OMIM:617235
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu... ORPHA:2590
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... ORPHA:225154
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Early-Onset X-Linked Optic Atrophy
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor ORPHA:98890
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls OMIM:301020
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S... OMIM:617964
Spinocerebellar Ataxia 47
Chorea, Ataxia, Dysmetria, Spasticity OMIM:617931
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis OMIM:619735
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... OMIM:164400
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston... OMIM:618218
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Dystonia OMIM:614249
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upper limb spasticit... ORPHA:485350
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Limb dystonia, Frequent falls OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Chorea, Spasticity ORPHA:70472
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... OMIM:616795
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity OMIM:609260
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hemiplegia/hemiparesis, Chorea, Dystonia ORPHA:289916
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hemiballismus, Spastic tetraparesis OMIM:618567
Birk-Aharoni Syndrome
Inability to walk, Chorea, Spastic tetraplegia OMIM:620071
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... ORPHA:280219
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired ... OMIM:606002
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia OMIM:617270
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthoton... OMIM:619653
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity, Dystonia OMIM:613970
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis OMIM:617065
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... OMIM:302800
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Spastic tetraparesis OMIM:619470
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensati... ORPHA:137898
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spastici... OMIM:608804
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance, Dystonia OMIM:250100
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity OMIM:612233
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hemiparesis, Dystonia, Limb hypertonia OMIM:618004
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Dyst... OMIM:610217
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Pontocerebellar Hypoplasia, Type 2B
Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Dystonia, Spasticity, Lim... OMIM:612389
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:618497
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... OMIM:617435
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Charcot-Marie-Tooth Disease And Deafness
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment OMIM:118300
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... ORPHA:309246
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
X-Linked Creatine Transporter Deficiency
Ataxia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spasticity OMIM:617864
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Babinski sign, Ataxia OMIM:604168
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Nasu-Hakola Disease
Oculomotor apraxia, Chorea, Spasticity ORPHA:2770
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... OMIM:615356
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Spasticity OMIM:620149
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... ORPHA:206594
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Spasticity OMIM:614961
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... ORPHA:309271
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Chorea, Spasticity, Limb dystonia OMIM:616339
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia OMIM:245348
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity ORPHA:941
Pandas
Chorea, Clumsiness ORPHA:66624
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Progressi... OMIM:300260
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait ORPHA:3077
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... OMIM:616586
Developmental And Epileptic Encephalopathy 84
Chorea, Babinski sign, Opisthotonus, Dystonia, Spasticity OMIM:618792
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia ORPHA:25
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... OMIM:614298
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign... OMIM:601162
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Dyston... ORPHA:561854
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... OMIM:616505
Pontocerebellar Hypoplasia, Type 2A
Chorea, Dystonia, Extrapyramidal dyskinesia, Opisthotonus OMIM:277470
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Frequent falls, Ataxia, Dystonia OMIM:618416
Mitochondrial Complex I Deficiency, Nuclear Type 16
Choreoathetosis, Spasticity, Spastic tetraplegia, Dystonia OMIM:618238
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... ORPHA:289494
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Cerebral palsy, Myoclonus OMIM:617600
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia OMIM:616672
Rheumatic Fever
Hemiballismus, Chorea, Gait disturbance, Fasciculations ORPHA:3099
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Clumsiness, Choreoathetosis, Fal... ORPHA:209905
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia OMIM:618321
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Erratic myo... OMIM:308350
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Inability to walk, Hypertonia, Rigidity OMIM:620023
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Nabais Sa-De Vries Syndrome, Type 2
Hemiparesis, Chorea, Dystonia OMIM:618829
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Involuntary movements, Inability to walk, Chorea, Dystonia OMIM:617804
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Cimdag Syndrome
Chorea, Ataxia, Spasticity, Dystonia OMIM:619273
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Ataxia OMIM:619435
Episodic Ataxia Type 1
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia ORPHA:37612
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Allan-Herndon-Dudley Syndrome
Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoathetosis, Ankle clonu... ORPHA:59
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Cystathioninuria
Tremor ORPHA:212
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia OMIM:612164
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Leigh Syndrome
Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic... ORPHA:506
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Rett Syndrome, Congenital Variant
Chorea, Athetosis, Dystonia, Spasticity, Apraxia OMIM:613454
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticity ORPHA:58
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Abnormal... ORPHA:646
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Chorea, Tip-toe gait ORPHA:268
Snijders Blok-Fisher Syndrome
Choreoathetosis, Spasticity, Opisthotonus OMIM:618604
Mcleod Syndrome
Chorea, Dystonia, Impaired vibration sensation at ankles OMIM:300842
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Chromosome 18Q Deletion Syndrome
Tremor, Chorea, Poor coordination, Broad-based gait OMIM:601808
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr... ORPHA:522077
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... ORPHA:447753
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Pelizaeus-Merzbacher Disease
Ataxia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity ORPHA:702
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, Tip-toe gait, Ab... ORPHA:157850
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Dystonia, Oculomotor apr... ORPHA:404454
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Laryngeal dystonia, Inability to ... ORPHA:845
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Chorea, Gait ataxia, Hypertonia, Dystonia, Spasticity ORPHA:255210
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Developmental And Epileptic Encephalopathy 100
Choreoathetosis, Chorea, Myoclonus, Gait ataxia OMIM:619777
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia OMIM:618249
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo... ORPHA:217253
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... ORPHA:445038
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Spondyloenchondrodysplasia
Chorea, Spasticity ORPHA:1855
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Glutaric Acidemia I
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia OMIM:231670
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Neuroleptic Malignant Syndrome
Tremor, Chorea, Extrapyramidal muscular rigidity, Oculogyric crisis ORPHA:94093
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spasticity OMIM:300322
Holoprosencephaly
Chorea, Spasticity, Dystonia ORPHA:2162
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment OMIM:278700
Menkes Disease
Chorea, Hypertonia, Spasticity ORPHA:565
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Vici Syndrome
Abnormal posturing OMIM:242840
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia OMIM:278730
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Systemic Lupus Erythematosus
Chorea ORPHA:536
Brucellosis
Chorea ORPHA:1304
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trak1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trak1.

No publications found that use IMPC mice or data for Trak1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Trak1tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells
Trak1em1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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