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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
Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... ORPHA:442835
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response 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
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Dystonia ORPHA:98934
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia OMIM:617018
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Gait disturba... OMIM:616981
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:258501
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity OMIM:118750
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis ORPHA:31709
Huntington Disease-Like 1
Incoordination, Chorea, Dysmetria, Rigidity, Unsteady gait OMIM:603218
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Chorea, Ataxia, Dystonia, Paroxysmal dyskinesia OMIM:619150
Chorea, Benign Familial
Chorea OMIM:215450
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, Pos... OMIM:607136
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Inability to walk OMIM:618760
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki... OMIM:618317
Spinocerebellar Ataxia Type 2
Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, Kinetic tremor, Dystonia, Pro... ORPHA:98756
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait di... ORPHA:363710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Athetosis, Inability to walk OMIM:615473
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Abnormal pyrami... ORPHA:98759
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Juvenile Huntington Disease
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Ataxia, Bradykinesia, Progr... ORPHA:248111
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Postural tremor, Chorea, Parkinsonism, Athetosis OMIM:615483
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Sydenham Chorea
Chorea, Hemiballismus, Unsteady gait ORPHA:306731
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At... ORPHA:79263
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Dyst... ORPHA:13
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia OMIM:104290
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapyramidal motor functio... ORPHA:382
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb spasticity, Oculomo... OMIM:604391
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Truncal ataxia, Choreoathetosis OMIM:616230
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis OMIM:118800
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Inability to walk,... ORPHA:300605
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... ORPHA:238455
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:614820
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Inability to walk, Chorea, Rigidity, Abnormality of extrapyramidal motor function, Pa... OMIM:617672
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Pontocerebellar Hypoplasia, Type 2D
Chorea, Clonus, Spastic tetraplegia, Appendicular spasticity OMIM:613811
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... ORPHA:157941
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Developmental And Epileptic Encephalopathy 27
Dystonia, Myoclonus, Spasticity, Chorea OMIM:616139
Huntington Disease-Like 3
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... ORPHA:157946
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation... OMIM:617282
Ataxia-Telangiectasia-Like Disorder
Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Dystonia... ORPHA:251347
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab... OMIM:610245
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... ORPHA:500180
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Loss of ambulation, Oculomot... OMIM:208920
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Hemiplegia, Cho... ORPHA:225147
Developmental And Epileptic Encephalopathy 78
Inability to walk, Spasticity, Chorea, Cerebral palsy OMIM:618557
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Dyst... OMIM:614254
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Huntington Disease-Like 3
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Unsteady gait, Abnormal pyramid... OMIM:604802
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... ORPHA:521406
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Tremor, Hemiparesis OMIM:141500
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Dystonia, Athetosis OMIM:617493
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis OMIM:619317
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Huntington Disease
Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ... ORPHA:399
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Gait imbalance, Dysmetria... ORPHA:98755
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Athetosis, Choreoathetosis OMIM:309541
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Mepan Syndrome
Spasticity, Hemidystonia, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Craniofacial dystonia... ORPHA:508093
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Striatonigral Degeneration, Infantile
Dystonia, Spasticity, Choreoathetosis OMIM:271930
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Inability to walk, Chorea, Gait ataxia, Dystonia OMIM:618917
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dystonia... OMIM:618088
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... ORPHA:2590
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Cerebral palsy, Chorea, Babinski sign, Hypertonia, Dystonia, Choreoathetosis OMIM:618451
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Friedreich Ataxia
Spasticity, Falls, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dysmetr... ORPHA:95
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Abnormal posturing, Generalized dystonia, Tip-toe gait, Inability to walk, Opisthoton... ORPHA:216866
Neurodevelopmental Disorder With Dystonia And Seizures
Dystonia, Chorea, Athetosis, Spastic tetraplegia OMIM:619922
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Fasciculations ORPHA:65684
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Dysmetria, Abnormal pyramidal sign, Ataxia, Intention tremor ORPHA:48431
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Abnormal posturing, Tremor OMIM:304700
Folinic Acid-Responsive Seizures
Broad-based gait, Spastic tetraparesis, Difficulty walking, Chorea, Hypertonia, Ataxia, Dystonia ORPHA:79097
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Truncal ataxia, Chorea, Waddling gait ORPHA:369840
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Tremor, Distal sensory impairment, Dysmetria, Steppage gait, Ataxia OMIM:618387
Schimke Syndrome
Spasticity, Choreoathetosis OMIM:312840
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis OMIM:616291
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Myoclonus OMIM:617235
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Dystonia, Babinski... ORPHA:225154
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Torticoll... OMIM:604290
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance OMIM:618090
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Intention tremor, Babinski sign, Dysdiadochokinesis, Choreoathetosis ORPHA:98890
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:602066
Spastic Paraplegia 86, Autosomal Recessive
Spastic paraplegia, Inability to walk, Babinski sign, Ataxia, Choreoathetosis OMIM:619735
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:240103
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathetosis OMIM:301020
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Gait ataxia, Intention tremor, Dysmetria, Abnormal pyramidal si... OMIM:617964
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia OMIM:619028
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Spinocerebellar Ataxia 47
Spasticity, Chorea, Dysmetria, Ataxia OMIM:617931
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Chorea, Myoclonus, Lower limb spasticity, Unsteady gait, Upper lim... ORPHA:485350
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Lower limb spasticity, Gait ataxia, Waddling gait OMIM:620445
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Chorea, Limb a... OMIM:164400
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cere... OMIM:618218
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Limb ataxia, Gait ataxia, Paresthesia, Tremor, Distal sensor... OMIM:616719
Birk-Aharoni Syndrome
Inability to walk, Chorea, Spastic tetraplegia OMIM:620071
Myopathy With Extrapyramidal Signs
Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clo... OMIM:615673
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Limb dystonia, Babinski sign, Torticollis, Ataxia, Frequent falls, Choreoathetosis OMIM:619054
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Generalized dystonia, Inability to walk, Chorea, Ataxia ORPHA:70472
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Tremor, Distal sensory impairment, Babinski sign, Steppage gait, Hypertonia OMIM:609260
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... OMIM:619911
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Spasticity, Choreoathetosis OMIM:614249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Chorea, Choreoathetosis, Hemiplegia/hemiparesis ORPHA:289916
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hemiballismus, Spastic tetraparesis OMIM:618567
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... ORPHA:280219
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Inability to walk, Dystonia, Opisthotonus, Parkinsonism, Apraxi... OMIM:619653
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia OMIM:617270
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant... OMIM:159950
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Spasticity, Chorea OMIM:613970
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Difficulty walking ORPHA:369847
Developmental And Epileptic Encephalopathy 40
Spasticity, Myoclonus, Choreoathetosis, Spastic tetraparesis OMIM:617065
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Hsd10 Disease
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Distal sensory ... OMIM:302800
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Broad-based gait OMIM:619470
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... OMIM:210000
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, Loss of ambulation, ... ORPHA:137898
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Apr... ORPHA:93952
Metachromatic Leukodystrophy
Chorea, Babinski sign, Gait disturbance, Tetraplegia, Ataxia, Dystonia, Spastic tetraplegia OMIM:250100
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Dystonia... OMIM:608804
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Distal sensory impairment, T... ORPHA:90117
Leukodystrophy, Hypomyelinating, 4
Spastic paraplegia, Babinski sign, Head titubation, Progressive spasticity, Choreoathetosis OMIM:612233
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Paroxysmal dystonia, Hemiparesis, Limb hypertonia, Dystonia OMIM:618004
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... ORPHA:3095
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis OMIM:615905
Pontocerebellar Hypoplasia, Type 2B
Spasticity, Chorea, Opisthotonus, Babinski sign, Clonus, Limb hypertonia, Dystonia, Extrapyramida... OMIM:612389
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, Hypertonia... OMIM:610217
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis OMIM:618497
Charcot-Marie-Tooth Disease And Deafness
Distal sensory impairment, Gait disturbance, Steppage gait, Tremor OMIM:118300
Gm2 Gangliosidosis, Ab Variant
Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle response, ... ORPHA:309246
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai... OMIM:617435
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Head tremor, Postural tremor, Gait imbalance, Babinski sign, Abnorma... ORPHA:64753
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Inability to walk, Chorea, Hypertonia, Exaggerated startle response, Spastic tetraplegia OMIM:617864
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
X-Linked Creatine Transporter Deficiency
Chorea, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... OMIM:183090
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic movements, At... OMIM:615356
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis OMIM:308950
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle... OMIM:272750
Nasu-Hakola Disease
Spasticity, Oculomotor apraxia, Chorea ORPHA:2770
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... ORPHA:459056
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Babinski sign, Chorea, Ataxia OMIM:604168
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I... ORPHA:206443
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Spasticity, Chorea OMIM:620149
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins... OMIM:300055
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... OMIM:615530
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... OMIM:312080
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Spasticity, Chorea, Gait ataxia, Hypertonia OMIM:614961
Pandas
Clumsiness, Chorea ORPHA:66624
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... ORPHA:206594
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Metachromatic Leukodystrophy, Adult Form
Spasticity, Decerebrate rigidity, Difficulty walking, Chorea, Progressive spastic quadriplegia, P... ORPHA:309271
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Impaired distal vibration sensation, Postural tremor, Gait ataxia, Action tremor,... OMIM:300623
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Chorea, Limb dystonia OMIM:616339
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:245348
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia ORPHA:329284
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dystonia OMIM:607694
D-Glyceric Aciduria
Myoclonus, Spasticity, Chorea ORPHA:941
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Inability to walk, Chorea, Rigidity, Lower limb spasticity, Ataxia, Progressi... OMIM:300260
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Developmental And Epileptic Encephalopathy 84
Spasticity, Chorea, Opisthotonus, Babinski sign, Dystonia OMIM:618792
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Ataxia, Dystonia, Athetosis ORPHA:25
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, C... ORPHA:561854
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Chorea OMIM:620535
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Distal sensory impairment, Babinski sign, Steppage gai... OMIM:616505
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:614298
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Frequent falls, Choreoathetosis, Ataxia OMIM:618416
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia OMIM:277470
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Spasticity, Spastic tetraplegia, Choreoathetosis OMIM:618238
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia ORPHA:70594
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Saccharopinuria
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Dystonia OMIM:616672
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Myoclonus, Cerebral palsy OMIM:617600
Rheumatic Fever
Chorea, Gait disturbance, Hemiballismus, Fasciculations ORPHA:3099
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, Ataxia OMIM:619092
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Incoordination, Chorea, Myoclonus, Intention tremor, Clumsiness, Ap... ORPHA:209905
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:300894
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Ankle clonus, Babinski sign, Apr... ORPHA:52368
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia ORPHA:529665
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... ORPHA:765
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Ataxia, Dystonia, Spastic tetraplegia OMIM:618321
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... ORPHA:442835
Developmental And Epileptic Encephalopathy 1
Dystonia, Abnormal pyramidal sign, Hypertonia, Spastic tetraparesis, Erratic myoclonus, Choreoath... OMIM:308350
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia, Tremor,... ORPHA:363400
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Nabais Sa-De Vries Syndrome, Type 2
Dystonia, Chorea, Hemiparesis OMIM:618829
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Choreoathetosis, Hypertonia, Rigidity OMIM:620023
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsoni... OMIM:168601
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Inability to walk, Chorea, Ataxia, Dystonia OMIM:617804
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Ritscher-Schinzel Syndrome 4
Chorea, Athetosis, Ataxia OMIM:619435
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Cimdag Syndrome
Dystonia, Spasticity, Chorea, Ataxia OMIM:619273
Perry Syndrome
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168605
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oculomotor ... ORPHA:2131
Episodic Ataxia Type 1
Tip-toe gait, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis ORPHA:37612
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Tremor, Dystonia, Choreoathetosis OMIM:617664
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168600
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Allan-Herndon-Dudley Syndrome
Spasticity, Abnormality of extrapyramidal motor function, Ankle clonus, Babinski sign, Abnormal p... ORPHA:59
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Cystathioninuria
Tremor ORPHA:212
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Dystonia, Athetosis OMIM:613454
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Leigh Syndrome
Spasticity, Involuntary movements, Chorea, Abnormality of extrapyramidal motor function, Hyperkin... ORPHA:506
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Limb hypertonia, Choreoathetosis OMIM:618247
Alexander Disease
Spasticity, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, Gait disturbance, Ataxia ORPHA:58
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Niemann-Pick Disease Type C
Cataplexy, Speech apraxia, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Tremor, Progressive ... ORPHA:646
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Chorea, Tip-toe gait ORPHA:268
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Choreoacanthocytosis
Blepharospasm, Poor motor coordination, Involuntary movements, Impaired vibratory sensation, Fall... ORPHA:2388
Mcleod Syndrome
Dystonia, Chorea, Impaired vibration sensation at ankles OMIM:300842
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Babinski sign, Limb hypertonia, Limb ... OMIM:608643
Chromosome 18Q Deletion Syndrome
Chorea, Poor coordination, Tremor, Broad-based gait OMIM:601808
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa... ORPHA:522077
Snijders Blok-Fisher Syndrome
Opisthotonus, Spasticity, Choreoathetosis OMIM:618604
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Distal sensory impairment,... OMIM:617675
Jaberi-Elahi Syndrome
Broad-based gait, Inability to walk, Gait ataxia, Appendicular spasticity, Dysmetria, Tremor, Dys... OMIM:617988
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal... ORPHA:447753
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Progressive Supranuclear Palsy
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia ORPHA:683
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Pelizaeus-Merzbacher Disease
Spasticity, Gait disturbance, Ataxia, Dystonia, Choreoathetosis ORPHA:702
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Choreoathetosis, Tetraparesis ORPHA:27
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Abnormality of... ORPHA:157850
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Myoclonus, Action tremor, Dysmetria, Hyperkine... OMIM:615273
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, Oculomotor apraxia, ... ORPHA:404454
Tay-Sachs Disease
Decerebrate rigidity, Laryngeal dystonia, Incoordination, Fasciculations, Inability to walk, Myoc... ORPHA:845
Unilateral Polymicrogyria
Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Spasti... ORPHA:268943
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Chorea, Gait ataxia, Hypertonia, Ataxia, Dystonia ORPHA:255210
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abn... OMIM:234200
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Mitochondrial Complex I Deficiency, Nuclear Type 28
Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal ataxia, Choreoathetosis OMIM:618249
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Chorea, Myoclonus, Choreoathetosis OMIM:619777
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Tremor, Distal sensory impairme... ORPHA:99956
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
3-Methylglutaconic Aciduria Type 7
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnormal pyram... ORPHA:445038
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Opisthotonus, Dystonia, Ch... ORPHA:217253
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia ORPHA:2828
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Glutaric Acidemia I
Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spastic diplegia OMIM:231670
Spondyloenchondrodysplasia
Spasticity, Chorea ORPHA:1855
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... OMIM:601104
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Chorea, Oculogyric crisis, Tremor ORPHA:94093
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Ataxia-Telangiectasia
Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slu... OMIM:208900
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Metachromatic Leukodystrophy
Decerebrate rigidity, Tip-toe gait, Incoordination, Tremor, Gait disturbance, Ataxia, Dystonia, P... ORPHA:512
Lesch-Nyhan Syndrome
Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus, Dystonia, Choreoathetosis OMIM:300322
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Holoprosencephaly
Dystonia, Spasticity, Chorea ORPHA:2162
Xeroderma Pigmentosum, Complementation Group A
Spasticity, Choreoathetosis, Distal sensory impairment, Ataxia OMIM:278700
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Menkes Disease
Spasticity, Chorea, Hypertonia ORPHA:565
Vici Syndrome
Abnormal posturing OMIM:242840
Xeroderma Pigmentosum, Complementation Group D
Spasticity, Choreoathetosis, Ataxia OMIM:278730
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Brucellosis
Chorea ORPHA:1304
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response OMIM:618201
Systemic Lupus Erythematosus
Chorea ORPHA:536

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

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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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