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Gene: Tor1a MGI:1353568

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Gene Summary

Name:
torsin family 1, member A (torsin A)
Synonyms:
DQ2,  torsinA,  Tor1a,  Dyt1

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tor1aem1(IMPC)H HOM   Early adult 0.00
prolonged RR interval Tor1aem1(IMPC)H HET   Early adult 4.04×10-05

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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.

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Tor1a 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 Tor1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Myoclonus-Dystonia Syndrome
Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Panic attack, Depressio... ORPHA:36899
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Generalized hy... OMIM:128100
Arthrogryposis Multiplex Congenita 5
Akinesia, Generalized hypotonia, Hand tremor, Hypertonia, Dystonia OMIM:618947

The table below shows human diseases predicted to be associated to Tor1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Dysphagia, Unsteady gait OMIM:615945
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Depression... OMIM:619565
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper mo... ORPHA:401901
Dystonia 30
Aggressive behavior, Writer's cramp, Bipolar affective disorder, Torticollis, Leg dystonia, Loss ... OMIM:619291
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Huntington Disease-Like 2
Chorea, Inertia, Weight loss, Rigidity, Apathy, Dementia, Dystonia, Action tremor, Depression, An... OMIM:606438
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... OMIM:616053
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Huntington Disease-Like 2
Chorea, Weight loss, Parkinsonism, Gait disturbance, Dementia, Dystonia, Involuntary movements, M... ORPHA:98934
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Dystonia 4, Torsion, Autosomal Dominant
Gait ataxia, Limb dystonia, Torticollis, Hemidystonia, Torsion dystonia, Slender build, Generaliz... OMIM:128101
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dystonia, Fascicu... ORPHA:309169
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Dysphagia, Un... ORPHA:210571
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Dementia, Difficulty walking, Mental deterioration, Sensory ataxia, Dystonia OMIM:619661
Juvenile Huntington Disease
Gait ataxia, Chorea, Cerebellar vermis atrophy, Weight loss, Oral motor hypotonia, Rigidity, Myoc... ORPHA:248111
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity ORPHA:401840
Autosomal Recessive Spastic Paraplegia Type 56
Cognitive impairment, Tip-toe gait, Spastic gait, Babinski sign, Spastic paraplegia, Unsteady gai... ORPHA:320411
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Generalized hypotonia, Ataxia, Hypotonia, Tremor OMIM:213000
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Inertia, Parkinsonism, Rigidit... ORPHA:216873
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Depression... OMIM:618093
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia... ORPHA:101109
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Cognitive impairment, Babinski sign, Spastic paraplegia, Unsteady gait, Dystonia OMIM:615030
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Generalized hypotonia, Emo... ORPHA:71517
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... OMIM:617018
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor... OMIM:604326
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... OMIM:213200
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at... OMIM:607136
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Autosomal Dominant Focal Dystonia, Dyt25 Type
Lingual dystonia, Limb dystonia, Torticollis, Focal dystonia, Axial dystonia, Craniofacial dyston... ORPHA:329466
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation ORPHA:217012
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Dysdiado... OMIM:213600
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Dystonia With Cerebellar Atrophy
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia OMIM:611694
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Aggressive behavior, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal d... ORPHA:98811
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Myoclonus-Dystonia Syndrome
Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Panic attack, Depressio... ORPHA:36899
Dentatorubral-Pallidoluysian Atrophy
Chorea, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Dementia, Ataxi... OMIM:125370
Dystonia 12
Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Anxiety, Unsteady gait, Dyston... OMIM:128235
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Inability to walk, Ataxia, Failure to thrive, Hypoplasia of the pons, Tetraparesis, C... OMIM:618276
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Hypoplasia of the brainstem, Myoclonus, Failure to thrive, Tremor, Axial hypotonia, Anxiety, Dyst... OMIM:619651
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dysto... OMIM:614860
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Cognitive impairment, ... ORPHA:79262
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Dystonia, Difficulty walking, Laryngeal dystonia, Spastic paraplegia OMIM:619681
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Spastic tetraplegia, Abnormal brainstem MRI signal intensity, Inappropriate crying, Ataxia, Tetra... ORPHA:263410
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Huntington Disease
Gait ataxia, Chorea, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebellar atrop... OMIM:143100
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Broad-based gait, Intention tremor OMIM:601238
Dystonia 11, Myoclonic
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Hypotonia, Depression, Panic attack, Ago... OMIM:159900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Huntington Disease-Like 1
Gait ataxia, Chorea, Abnormal posturing, Poor fine motor coordination, Cognitive impairment, Weig... ORPHA:157941
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Spastic Ataxia 1, Autosomal Dominant
Memory impairment, Spastic ataxia, Gait disturbance, Spastic paraplegia, Dystonia OMIM:108600
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Depression, Menta... OMIM:605361
Creutzfeldt-Jakob Disease
Gait ataxia, Abnormal cerebellum morphology, Hemiparesis, Myoclonus, Apathy, Dementia, Depression... OMIM:123400
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Abnormal pyramidal sign, Cognitive impairment, Ataxia, Progressive neurologic deterioration, Ment... OMIM:619196
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Tremor by anatomical... ORPHA:98762
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Decreased body weight, Spastic gait, Babinski sign, Cogwheel rigidity, Hypertonia, Dystonia OMIM:618284
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebe... OMIM:604213
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Cerebellar atrophy ORPHA:423296
Pyknoachondrogenesis
Stillbirth OMIM:265880
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ... ORPHA:314632
Migraine, Familial Hemiplegic, 1
Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety, Cerebellar atrophy OMIM:141500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor OMIM:611105
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Generalized hy... OMIM:128100
Dystonia, Dopa-Responsive
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... OMIM:128230
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... ORPHA:454887
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Dysphagia, Unsteady gait, In... OMIM:302500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Anxiety, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240085
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Rigidity, Gait disturbance, Dysphagia, Bradykinesia ORPHA:228169
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cognitive impairment, Cerebellar hypoplasia, Truncal ataxia, Limb ataxi... OMIM:615768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Dystonia 33
Spasticity, Limb dystonia, Babinski sign, Axial dystonia, Axial hypotonia, Dystonia OMIM:619687
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Cognitive impairment, Tip-toe gait, Torticollis, Myoclonus, Gait disturb... OMIM:617284
Huntington Disease
Poor fine motor coordination, Suicidal ideation, Inability to walk, Irritability, Babinski sign, ... ORPHA:399
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Dementia, Emotional labilit... OMIM:615362
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Amyotrophic lateral sclerosis, Gliosis, Athetosis, Dystonia OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Hand tremor, Gliosis, Tetraplegia, Dist... OMIM:604484
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... ORPHA:98759
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Dementia, Depression, Anxiety, Dystonia, Bradykinesia OMIM:605909
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, General... ORPHA:98756
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Infantile muscular hypotonia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babins... ORPHA:453521
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Spasticity, Choreoathetosis, Hypoplasia of the pons, Axial hypotonia, Irritability, Dystonia OMIM:614249
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Aggressive behavior, Falls, Poor coordination, Ataxia, Inappropriate laughter, Paroxysmal... OMIM:619150
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat... OMIM:615957
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Loss of am... OMIM:613908
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Appendicular ... OMIM:616127
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements OMIM:611092
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypotonia, Progressive neurologic deterioration, Hypertonia, ... OMIM:261630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Parapa... ORPHA:275872
Dopa-Responsive Dystonia
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Sl... ORPHA:255
Spinocerebellar Ataxia, Autosomal Recessive 29
Iron accumulation in substantia nigra, Cerebellar vermis atrophy, Inability to walk, Ataxia, Hypo... OMIM:619389
Striatonigral Degeneration, Childhood-Onset
Ankle clonus, Loss of ambulation, Hypotonia, Craniofacial dystonia, Hypertonia, Steppage gait, Un... OMIM:617054
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tr... OMIM:617225
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Depression, M... OMIM:615643
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Spinocerebellar Ataxia Type 1
Chorea, Loss of Purkinje cells in the cerebellar vermis, Cognitive impairment, Inertia, Dysdiadoc... ORPHA:98755
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spastic Paraplegia 80, Autosomal Dominant
Upper limb spasticity, Limb ataxia, Gait disturbance, Babinski sign, Spastic paraplegia, Lower li... OMIM:618418
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Torsion dystonia, Oroman... OMIM:602629
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Mental deterioration, Dy... OMIM:614820
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi... OMIM:617145
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Shuffling gait, Limb hypertonia, Parki... OMIM:615528
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Broad-based gait, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Neurona... OMIM:610245
Developmental And Epileptic Encephalopathy 38
Generalized hypotonia, Dystonia, Ataxia, Hypertonia OMIM:617020
Dystonia 25
Laryngeal dystonia, Limb dystonia, Torticollis, Lingual dystonia OMIM:615073
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Apraxia, Hand tremor, Dementia, Ataxia, Babinski sign, Depression, Cerebellar atrophy... OMIM:615889
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Hypertonia, Mental deteriorati... OMIM:618824
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Torticollis, Frequent falls, ... OMIM:618369
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Gerstmann-Straussler Disease
Gait ataxia, Spasticity, Aggressive behavior, Weight loss, Parkinsonism, Truncal ataxia, Rigidity... OMIM:137440
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Epilepsy, Progressive Myoclonic 7
Myoclonus, Ataxia, Tremor, Mental deterioration, Cerebellar atrophy OMIM:616187
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Spastic Paraplegia, Ataxia, And Mental Retardation
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... OMIM:607565
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Generalized dystonia, Postural tremor, Parkinsonism, Rigidity, Limb dystonia, Oculog... ORPHA:101150
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Cognitive impairment, Rigidi... ORPHA:98763
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia, Parkinsonism ORPHA:370103
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Hypotonia, Head titubation, Leth... OMIM:250620
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Bradykinesia, Gait ataxia, Aggressive behavior, Dysmetria, Limb fasciculations, De... OMIM:615157
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Short stepped shuffling gait, Brad... ORPHA:306692
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum ORPHA:85165
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Spasticity, Global brain atrophy, Parkinsonism, Rigidity, Apraxia, N... OMIM:221820
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Self-injurious behavior, Inability to walk, Axial hypotonia, Dystonia OMIM:618760
Machado-Joseph Disease
Dilated fourth ventricle, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extr... OMIM:109150
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Cerebral cortical atrophy, Pa... OMIM:617672
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia OMIM:614203
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Myopathy, spheroid body
Waddling gait, Tremor, Broad-based gait, Dysphagia OMIM:182920
Chorea, Benign Hereditary
Chorea, Gait disturbance, Dementia, Frequent falls, Anxiety OMIM:118700
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Abnormal pyramidal sign, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Slurred speech, D... OMIM:618317
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Self-injurious behavior, Inability to walk, Hypotonia, Involuntary movements, Dystonia OMIM:617820
Developmental And Epileptic Encephalopathy 92
Spasticity, Inability to walk, Myoclonus, Ataxia, Difficulty walking, Lethargy, Dystonia OMIM:617829
Spinocerebellar Ataxia Type 27
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Limb ataxia, Hand tremor, Gait distur... ORPHA:98764
Developmental And Epileptic Encephalopathy 44
Spasticity, Irritability, Generalized hypotonia, Failure to thrive, Cerebellar atrophy, Athetosis... OMIM:617132
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Mental deterioratio... OMIM:615924
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Demen... OMIM:606159
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Truncal ataxia, Limb dystonia, Tortico... OMIM:617560
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Impulsivity, Lower limb spasticity OMIM:619028
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Aggressive behavior, Hyperkinetic movements, Parkinsonism, Ataxia, Tremor, Cerebellar atr... OMIM:619738
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hyperphenylalaninemia, Bh4-Deficient, A
Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ataxia, Trem... OMIM:261640
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy, Small for gestational age, Limb dystonia, To... OMIM:619054
Intellectual Developmental Disorder, Autosomal Recessive 48
Aggressive behavior, Inability to walk, Emotional lability, Inappropriate laughter, Tremor, Self-... OMIM:616269
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Dense calcifications in the cerebellar... ORPHA:542310
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Generalized hypotonia, Ataxia, H... OMIM:615159
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... OMIM:606703
Hypermanganesemia With Dystonia 2
Inability to walk, Limb dystonia, Babinski sign, Bradykinesia, Lower limb hypertonia, Spasticity,... OMIM:617013
Pontocerebellar Hypoplasia, Type 4
Spasticity, Loss of Purkinje cells in the cerebellar vermis, Cerebellar hypoplasia, Myoclonus, Hy... OMIM:225753
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation OMIM:615770
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Multiple Mitochondrial Dysfunctions Syndrome 6
Spasticity, Inability to walk, Atrophy/Degeneration affecting the brainstem, Ataxia, Failure to t... OMIM:617954
Developmental And Epileptic Encephalopathy 14
Spasticity, Cerebral cortical atrophy, Neuronal loss in central nervous system, Gliosis, Tetraple... OMIM:614959
Neuroferritinopathy
Chorea, Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Blepharospasm... ORPHA:157846
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Pelizaeus-Merzbacher Disease
Cerebellar vermis atrophy, Inability to walk, Choreoathetosis, Spastic paraplegia, Writer's cramp... OMIM:312080
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... OMIM:105550
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sign, Dysmetria, Loss of amb... OMIM:618088
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Neuronal loss in central nervous system,... OMIM:604218
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Gait ataxia, Spasticity, Spastic ataxia, Cerebellar hypoplasia, Spastic dysarthria, Dysmetria, Pr... ORPHA:314603
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Spasticity, Self-injurious behavior, Inability to walk, Oculogyric crisis, Myoclonus, Ina... OMIM:614254
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Tremor, Dysphagia, Tongue fa... ORPHA:276435
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Cognitive impair... OMIM:616795
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Dysphagia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Tremor, Loss of ambulation, Hypotonia, Lower limb spasticity, Axial hypotonia,... OMIM:617916
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Neuromuscular dysphagia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apr... ORPHA:240094
Lhermitte-Duclos Disease
Enlarged cerebellum ORPHA:65285
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Spastic Paraplegia 26, Autosomal Recessive
Tip-toe gait, Spastic gait, Upper limb spasticity, Emotional lability, Ataxia, Spastic paraplegia... OMIM:609195
Striatonigral Degeneration, Infantile
Failure to thrive, Spasticity, Choreoathetosis, Dystonia OMIM:271930
Beta-Propeller Protein-Associated Neurodegeneration
Iron accumulation in substantia nigra, Aggressive behavior, Parkinsonism, Rigidity, Dementia, Spa... ORPHA:329284
Spinocerebellar Ataxia 21
Gait ataxia, Aggressive behavior, Cognitive impairment, Postural tremor, Parkinsonism, Akinesia, ... OMIM:607454
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Spa... OMIM:615491
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Brain Dopamine-Serotonin Vesicular Transport Disease
Cognitive impairment, Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Inappropri... ORPHA:352649
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Generalized hypotonia, Tremor, Progressive neurologic... OMIM:233910
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Poor fine motor coordination, Spasticity, Cognitive impairment, Motor deterioration, Clum... ORPHA:79263
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ankle clonus, Dysdiadochokinesis, Atrophy/Degeneration affecting the brainstem, Ataxia, Spastic p... OMIM:612319
Spastic Paraplegia 53, Autosomal Recessive
Cognitive impairment, Gait disturbance, Spastic paraplegia, Upper limb hypertonia, Clonus, Impair... OMIM:614898
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Spastic Paraplegia 87, Autosomal Recessive
Spastic gait, Upper limb spasticity, Babinski sign, Lower limb spasticity, Dystonia OMIM:619966
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Leukodystrophy, Hypomyelinating, 21
Ataxia, Failure to thrive, Tetraparesis, Mental deterioration, Cerebellar atrophy, Athetosis, Dys... OMIM:619310
Huntington Disease-Like 1
Chorea, Aggressive behavior, Rigidity, Incoordination, Dementia, Dysmetria, Depression, Anxiety, ... OMIM:603218
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Rigidity, Myoclonus, Apathy... OMIM:600795
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Weight loss, Parkinsonism, Ri... OMIM:168605
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Abnormal posturing, Cognitive impairment, Tip-toe gait, Weight loss, Inability to wal... ORPHA:216866
Neurodegeneration With Brain Iron Accumulation
Chorea, Spasticity, Rigidity, Abnormality of extrapyramidal motor function, Cerebellar atrophy, D... ORPHA:385
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy OMIM:607458
Dystonia With Ringbinden
Chorea, Gait disturbance, Dystonia OMIM:224550
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
Dystonia 16
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... OMIM:612067
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
Atypical Rett Syndrome
Gait ataxia, Abnormal muscle tone, Spasticity, Limb myoclonus, Inability to walk, Involuntary mov... ORPHA:3095
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Infantile muscular hypoton... ORPHA:225147
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Cachexia, Axial dystonia, Difficulty walking, Hypertonia, Arm dystonia, Abnorm... ORPHA:300605
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Failure to thrive, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Choreoathetosis, Ataxia, Neonatal hypotonia, Involunt... OMIM:618218
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... ORPHA:420492
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Self-injurious behavior, Generalized hypotonia, Atrophy/Degeneration affectin... OMIM:617493
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Glut1 Deficiency Syndrome 1
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... OMIM:606777
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Parkinsonism, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Self-injurious behavior, Spastic tetraplegia, Cerebellar hypoplasia, Hypotonia, Anxiety, ... OMIM:619922
Manganese Poisoning
Aggressive behavior, Postural tremor, Akinesia, Hypersexuality, Abnormality of extrapyramidal mot... ORPHA:306682
Raynaud-Claes Syndrome
Aggressive behavior, Bipolar affective disorder, Generalized hypotonia, Hypotonia, Depression, An... OMIM:300114
Infantile Dystonia-Parkinsonism
Chorea, Abnormal pyramidal sign, Limb hypertonia, Parkinsonism, Cerebral palsy, Oculogyric crisis... ORPHA:238455
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torticollis, Torsion dystonia, Tremor, Dysphagia OMIM:224500
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Generalized hypotonia, Ataxia, Hypotonia, Lower limb spasticity, Obesity, Dyst... OMIM:616756
Guanidinoacetate Methyltransferase Deficiency
Chorea, Aggressive behavior, Self-injurious behavior, Abnormality of extrapyramidal motor functio... ORPHA:382
Paroxysmal Kinesigenic Dyskinesia
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia ORPHA:98809
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... ORPHA:240103
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Titubation, Abnormality of extrapyrami... ORPHA:280219
Pontocerebellar Hypoplasia, Type 2C
Chorea, Cerebellar hemisphere hypoplasia, Dystonia, Cerebellar vermis hypoplasia OMIM:612390
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements OMIM:611031
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Cerebellar hypoplasia OMIM:616113
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Aggressive behavior, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Axial hypot... OMIM:612716
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Generalized hypotonia, Ata... OMIM:618224
3-Methylglutaconic Aciduria, Type I
Spasticity, Cognitive impairment, Spastic tetraplegia, Dementia, Ataxia, Failure to thrive, Athet... OMIM:250950
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Generalized hypotonia, Ataxia, Tremor, Chiari type I malformation, Dystonia, Bradykinesia OMIM:617836
Kufor-Rakeb Syndrome
Spasticity, Aggressive behavior, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Park... OMIM:606693
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, O... OMIM:208920
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... ORPHA:391411
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Generalized hypotonia, Tremor, Difficulty walking, Depression, Dystoni... ORPHA:306669
Hemidystonia-Hemiatrophy Syndrome
Abnormal pyramidal sign, Hemiparesis, Limb dystonia, Babinski sign, Dystonia ORPHA:306741
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Babinski... ORPHA:225154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Spinocerebellar Ataxia 50
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Ptosis, Head trem... OMIM:620158
Leukodystrophy, Hypomyelinating, 18
Spasticity, Spastic tetraplegia, Progressive spasticity, Atrophy/Degeneration affecting the brain... OMIM:618404
Atypical Progressive Supranuclear Palsy Syndrome
Inappropriate behavior, Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls,... ORPHA:99750
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia OMIM:104290
Microcephaly 29, Primary, Autosomal Recessive
Enlarged cerebellum OMIM:620047
Dystonia 17, Torsion, Autosomal Recessive
Focal dystonia, Torticollis OMIM:612406
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Akinesia, Dementia, Spastic paraparesis, Tr... OMIM:300894
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... ORPHA:71277
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar hemisphere hypoplasia, Spasticity, Small for gestational age, Gliosis, Hypertonia, Cer... OMIM:615095
Mepan Syndrome
Chorea, Spasticity, Limb dystonia, Hemidystonia, Myoclonus, Gait disturbance, Ataxia, Failure to ... ORPHA:508093
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor OMIM:618090
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Dysphagi... OMIM:607346
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Spinocerebellar Ataxia Type 11
Abnormal pyramidal sign, Gait imbalance, Difficulty walking, Progressive cerebellar ataxia, Dystonia ORPHA:98767
Neuroectodermal Melanolysosomal Disease
Spasticity, Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar hypoplasia, Abnor... ORPHA:33445
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... OMIM:612124
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Irritability, Generalized hypotonia, Failure to thrive, Cerebellar atrophy, ... OMIM:618237
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... OMIM:300423
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Limb hypertonia, Parkinsonism, Oculogyric crisis, Generalized hypotonia, Hypertonia, Axial hypoto... OMIM:617384
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Foxg1 Syndrome
Paroxysmal bursts of laughter, Spasticity, Decreased body weight, Cognitive impairment, Inability... ORPHA:561854
Leukodystrophy, Hypomyelinating, 16
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Choreoathetosis, Broad-based gait, Failure ... OMIM:617964
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ... OMIM:607483
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Hypotonia, Cerebellar atrophy, Progressive cerebellar... ORPHA:139485
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia, Epicanthus OMIM:618951
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Atax... OMIM:236792
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Inability to walk, Loss of ability to walk in early childhood, Irritability, Generali... OMIM:612073
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Spastic tetraplegia, Cerebellar hypoplasia, Hypoplasia of the pons, ... OMIM:619301
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia OMIM:118800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Falls, Rigidity, Abnormality of extrapyramidal motor function, Oculogyric crisis, Choreoa... ORPHA:13
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Dysdiadocho... OMIM:614831
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Cognitive impairment, Ataxia ORPHA:1171
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the d... OMIM:610185
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Increased body mass index, Abnormal cerebellum morphology, Small for gestational age,... OMIM:300957
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Myoclonus, Axial hypotonia, Hyperkinetic movements, Dystonia OMIM:618285
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar vermis atrophy, Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Dysphagia, Cere... OMIM:614229
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... OMIM:600363
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abnormal aggressive,... ORPHA:3077
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Spinocerebellar Ataxia 28
Gait ataxia, Somatic sensory dysfunction, Spasticity, Parkinsonism, Limb ataxia, Babinski sign, C... OMIM:610246
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... ORPHA:53583
Pontocerebellar Hypoplasia, Type 2A
Chorea, Extrapyramidal dyskinesia, Cerebral cortical atrophy, Cerebellar hypoplasia, Hypoplasia o... OMIM:277470
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Hypo... OMIM:500003
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Gait ataxia, Spasticity, Truncal ataxia, Episodic ataxia, Gait disturbance, Ataxia, Hypotonia, Di... OMIM:614458
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Dystonia, Failure to thrive in infancy OMIM:619065
Dystonia 32
Limb dystonia, Torticollis, Laryngeal dystonia OMIM:619637
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Cognitive impairment, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclon... OMIM:614487
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ataxia-Oculomotor Apraxia 4
Abnormal pyramidal sign, Cognitive impairment, Oculomotor apraxia, Atrophy/Degeneration affecting... OMIM:616267
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Abnormal substantia nigra morphology, Shuffling gait, Parkinsonism, Rigidity, Hand tr... ORPHA:289560
Ataxia-Telangiectasia-Like Disorder
Gait ataxia, Chorea, Dilated fourth ventricle, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus,... ORPHA:251347
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Torticollis, Limb atax... OMIM:619862
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Attention deficit hyperactivity disorder, Ataxia OMIM:616421
Spinocerebellar Ataxia Type 8
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Rigidity, Spastic dysarthria, Limb ataxia, At... ORPHA:98760
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Tremor, Hypertonia,... OMIM:617435
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... OMIM:614298
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Axial hypotonia, Dystonia ORPHA:324588
Progressive Supranuclear Palsy
Blepharospasm, Cognitive impairment, Falls, Rigidity, Dementia, Abnormal synaptic transmission, T... ORPHA:683
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Akinesia, Freezing of gait, ... OMIM:619911
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... ORPHA:99
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Spastic ataxia, Cognitive impairment, Ataxia,... OMIM:611390
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Anxiety, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Panic attack... OMIM:619725
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy OMIM:616494
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cognitive impairment, Limb hypertonia, Cerebral palsy, Small for gestational age, Rigidity, Oculo... ORPHA:70594
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Falls, Rigidity, Dysmetria, Hypotonia, Unsteady gait, Dystonia OMIM:203740
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Spasticity, Aggressive behavior, Abnormal pyramidal sign, Limb hypertonia, I... ORPHA:500180
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Abnormal pyramidal sign, Tip-... ORPHA:397946
Primary Dystonia, Dyt4 Type
Blepharospasm, Dysdiadochokinesis, Upper limb postural tremor, Torticollis, Gait disturbance, Eun... ORPHA:98805
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia OMIM:612126
Parkinson Disease 14, Autosomal Recessive
Frontotemporal dementia, Eyelid myoclonus, Axial dystonia, Bradykinesia, Spasticity, Aggressive b... OMIM:612953
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Abnormal pyramidal sign, Progressive spasticity, Generalized hypotonia, Ataxia, Dysesthesia, Head... ORPHA:527497
Perry Syndrome
Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Dementia, Tremor... ORPHA:178509
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cognitive impairmen... ORPHA:1170
Epilepsy, Progressive Myoclonic, 12
Anxiety, Myoclonus, Ataxia, Dysmetria, Difficulty walking, Depression, Mental deterioration OMIM:619191
Fragile X Tremor/Ataxia Syndrome
Gait ataxia, Poor fine motor coordination, Impaired distal vibration sensation, Dysdiadochokinesi... OMIM:300623
Leigh Syndrome
Spasticity, Ataxia, Ptosis, Failure to thrive, Gliosis, Dystonia OMIM:256000
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Spasticity, Falls, Generalized hypotonia, Ataxia, Hypotonia, Axial hypotonia, Irritability, Dystonia OMIM:619224
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoa... OMIM:300055
Leber Optic Atrophy And Dystonia
Spasticity, Upper motor neuron dysfunction, Dementia, Athetosis, Dystonia, Bradykinesia OMIM:500001
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Spastic dysarthria, Babinski sign, Hypotonia, Facial ... ORPHA:280763
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Spasticity, Self-injurious behavior, Inability to walk, Cerebellar atrophy, ... OMIM:618917
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Dystonia, Spastic tetraplegia OMIM:251280
Huntington Disease-Like 3
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Extrapyramidal dyskinesia, Pro... ORPHA:157946
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Spastic tetraplegia, Cerebellar hypoplasia, Partial agenesis of the ... OMIM:619302
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Cerebellar atrophy, Dystonia ORPHA:330050
Aicardi-Goutieres Syndrome 6
Rigidity, Loss of ambulation, Tremor, Irritability, Dystonia OMIM:615010
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Inability to walk, Parkinsonism, Apraxia, Choreoathetosis, Spastic tetraparesis, Part... OMIM:619653
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment OMIM:618387
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Weight loss, Cachexia, Generalized hypotonia, Failure to thrive, Hypotonia, Progress... OMIM:612075
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Gait disturbance, Ataxia, Bab... OMIM:617282
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, Memory impairment OMIM:614018
Infantile Convulsions And Choreoathetosis
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Dystonia ORPHA:31709
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia, Cerebellar edema OMIM:618924
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... ORPHA:352596
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Spastic Paraplegia 50, Autosomal Recessive
Spastic tetraplegia, Limb hypertonia, Cerebral palsy, Ataxia, Babinski sign, Gliosis, Cerebellar ... OMIM:612936
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Myoclonus, Ataxia, Hypotonia, Anxiety, Dystonia OMIM:620094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Failure to thrive, Dysto... OMIM:618238
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Small for gestational age, Cerebellar cyst, Cerebellar gliosis, Ataxia, Gl... ORPHA:79243
Autosomal Recessive Spastic Paraplegia Type 78
Progressive spastic paraplegia, Abnormal pyramidal sign, Cognitive impairment, Progressive gait a... ORPHA:513436
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Mental deterioration, Dystonia OMIM:304700
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Spinocerebellar Ataxia Type 6
Gait ataxia, Blepharospasm, Choking episodes, Incoordination, Babinski sign, Unsteady gait, Dysph... ORPHA:98758
Dystonia 9
Abnormal pyramidal sign, Cognitive impairment, Paresthesia, Choreoathetosis, Episodic ataxia, Spa... OMIM:601042
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Titubation, Ataxia, Failure to thrive, Gliosis, Lower limb spasticity ORPHA:280210
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Hypotonia, Dystonia OMIM:613720
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Difficulty walking, Hypertonia, Arm dystonia, Spasticity, Spastic diplegia, Spasti... OMIM:205100
Multiple System Atrophy, Cerebellar Type
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ap... ORPHA:227510
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Abnormal pyramidal sign, Spastic gait, Hemidystonia, Spastic tetraparesis, Bradykinesia OMIM:619052
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Hypotonia, Axial hypot... OMIM:612438
Ataxia-Telangiectasia-Like Disorder 1
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... OMIM:604391
Autosomal Dominant Dopa-Responsive Dystonia
Gait ataxia, Impaired vibration sensation in the lower limbs, Abnormal substantia nigra morpholog... ORPHA:98808
Spinocerebellar Ataxia 2
Oculomotor apraxia, Babinski sign, Action tremor, Unsteady gait, Bradykinesia, Spasticity, Dement... OMIM:183090
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Myoclonus, Ataxia, Ptosis, Tremor, Cerebellar atrophy OMIM:612016
Mitochondrial Complex I Deficiency, Nuclear Type 5
Generalized hypotonia, Ataxia, Babinski sign, Failure to thrive, Hypotonia, Axial hypotonia, Cere... OMIM:618226
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Autosomal Recessive Spastic Paraplegia Type 26
Impaired vibration sensation at ankles, Abnormal cerebellum morphology, Pseudobulbar paralysis, G... ORPHA:101006
Inherited Creutzfeldt-Jakob Disease
Babinski sign, Spastic hemiparesis, Bradykinesia, Gait ataxia, Apathy, Dementia, Slurred speech, ... ORPHA:282166
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Tremor, Frequent fall... ORPHA:2590
Multiple System Atrophy, Parkinsonian Type
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Resting tremor, Parkinsonism, Rigidity, Ap... ORPHA:98933
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Poor fine motor coordination, Spastic tetraplegia, Ataxia, Spastic paraplegia, Poor gross motor c... OMIM:245349
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Neuronal loss in central nervous system, Gl... OMIM:256600
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia