Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
potassium voltage-gated channel, subfamily Q, member 1
Synonyms:
KVLQT1,  Kcna9

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kcnq1 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 predicted to be associated to Kcnq1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Steppage gait, Hand tremor, Sensorineural hearing impairment OMIM:300905
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Muscular hypotonia of the trunk, Frequent ... OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Muscular hypotonia of the trunk, Frequent falls ORPHA:494526
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Vertigo, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Generalized hypotonia, Ataxia, Hypotonia OMIM:213000
Chorea, Benign Familial
Chorea OMIM:215450
Glutathionuria
Tremor OMIM:231950
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Choreoathetosis, Familial Inverted
Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea, Generalized hypotonia, Hypotonia OMIM:614055
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Dystonia, Generalized hypotonia, Spasticity OMIM:613970
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Rigidity, Spasticity ORPHA:385
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Striatonigral Degeneration, Infantile, Mitochondrial
Generalized hypotonia, Babinski sign, Frequent falls, Paroxysmal choreoathetosis, Hypotonia OMIM:500003
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Acid Phosphatase Deficiency
Opisthotonus, Generalized hypotonia, Hypotonia OMIM:200950
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Hearing impairment, Spasticity ORPHA:217012
Chorea, Benign Hereditary
Chorea OMIM:118700
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Mental Retardation, Autosomal Recessive 58
Muscular hypotonia of the trunk, Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Chorea, Spasticity, Hypotonia OMIM:616139
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movements, Spasticity OMIM:617282
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Dystonia With Ringbinden
Chorea, Dystonia OMIM:224550
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Sensorineural hearing impairment, Clonus, Tip-toe gait, Scissor gait, Spasticity ORPHA:101004
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Developmental And Epileptic Encephalopathy 37
Generalized hypotonia, Rigidity, Hyperkinetic movements, Myoclonus, Choreoathetosis, Spasticity OMIM:616981
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Generalized hypotonia, Chorea, Babinski sign, Intention tremor, A... OMIM:130950
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Intellectual Developmental Disorder With Autism And Speech Delay
Generalized hypotonia, Stereotypy OMIM:606053
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Muscular hypotonia of the trunk, Abnormality of extrapyramidal motor function OMIM:301020
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis, Hypotonia OMIM:261630
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Spasticity OMIM:258501
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... OMIM:614561
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Muscular hypotonia of the trunk, Opisthotonus... OMIM:612389
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Writer's cramp, Involuntary movements, Athetosis ORPHA:98809
Familial Dyskinesia And Facial Myokymia
Dystonia, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hypertonia, Myoclonus ORPHA:324588
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Muscul... OMIM:613135
Huntington Disease-Like 2
Involuntary movements, Chorea, Dystonia, Parkinsonism ORPHA:98934
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lowe... ORPHA:251282
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Parkinsonism, Dysmetria OMIM:618317
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Myoclonus, Infantile muscular h... OMIM:612736
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Muscular hypotonia of the trunk OMIM:618760
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Hyperkinetic movements, Myoclonus, Choreoathetosis, Hypotonia OMIM:618497
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Oromandibular dystonia, Parkinsonism, Focal ... ORPHA:216873
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoathetosis, S... OMIM:606777
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Myoclonus, Hypotonia OMIM:159900
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Leukodystrophy, Hypomyelinating, 4
Generalized hypotonia, Babinski sign, Progressive spasticity, Choreoathetosis, Hypotonia OMIM:612233
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Xylosidase Deficiency
Generalized hypotonia, Choreoathetosis, Hypotonia OMIM:278900
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia OMIM:614937
Snijders Blok-Fisher Syndrome
Generalized hypotonia, Facial hypotonia, Opisthotonus, Choreoathetosis, Spasticity OMIM:618604
Cerebellar Ataxia, Cayman Type
Gait ataxia, Generalized hypotonia, Hypotonia, Intention tremor OMIM:601238
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Generalized hypotonia, Truncal ataxia, Dysmetria, Hypotonia OMIM:616127
Cerebellar Ataxia, Cayman Type
Gait ataxia, Generalized hypotonia, Truncal ataxia, Intention tremor, Nonprogressive cerebellar a... ORPHA:94122
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hypertonia OMIM:606703
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetrapares... OMIM:607483
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Myoclonus, Bilateral se... ORPHA:2589
Mohr-Tranebjaerg Syndrome
Dystonia, Sensorineural hearing impairment, Generalized dystonia, Abnormality of somatosensory ev... ORPHA:52368
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extrapyramidal ... ORPHA:71277
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Hyperkinetic movements, Oculogyric crisis, Myoclonus, Severe muscular hypotonia... OMIM:614254
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Muscular hypotonia of the tru... OMIM:619150
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Ataxia, Bradykinesia OMIM:618683
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia OMIM:615673
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Goiter, Hypothyroidism, Ataxia, Enlarged vestibular aqueduct,... ORPHA:705
Huntington Disease-Like 1
Chorea, Incoordination, Rigidity, Dysmetria OMIM:603218
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration, Optic atrophy, Spastic tetraplegia OMIM:258700
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Hypotonia, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoath... ORPHA:726
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Generalized hypotonia, Chorea, Progressiv... ORPHA:98756
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Pontocerebellar Hypoplasia, Type 2D
Chorea, Spastic tetraplegia, Clonus OMIM:613811
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Smith-Magenis syndrome
Stereotypy, Hypotonia DECIPHER:8
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Torticollis, Lingual dystonia, Myoclonus, L... OMIM:602629
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Abnormal pyramidal sign, Choreoathetosis OMIM:601042
Huntington Disease
Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Vertigo, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykin... ORPHA:101110
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Muscular hypotonia of the trunk, Myoclonus, Babinski sign,... OMIM:607317
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Tetraparesis, Opisthotonus, Myoclonus, Severe muscular hypotonia OMIM:616672
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Generalized hypotonia, Chorea, Myoclonus OMIM:618587
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Opisthotonus, Hypertonia, Muscular hypotonia of the trunk OMIM:616896
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Generalized hypotonia, Ataxia OMIM:617862
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Ravine Syndrome
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Failure to thrive, Atrophy/De... ORPHA:99852
Dystonia 15, Myoclonic
Writer's cramp, Dystonia, Myoclonus OMIM:607488
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Gait ataxia, Chorea, Muscular hypotonia of the trunk, Ataxia, Dysmetria OMIM:618501
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Muscular hypotonia of the trunk, Choreoathetosis, S... OMIM:612716
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Muscular hypotonia of the trunk, Pa... OMIM:261640
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Muscular hypotonia of the tr... ORPHA:238455
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea OMIM:607674
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Baker-Gordon Syndrome
Dystonia, Neonatal hypotonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, ... OMIM:618218
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Generalized hypotonia ORPHA:79137
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Upper limb spasticity, Chorea, Hypertonia, Spastic diplegia, Head titub... ORPHA:300605
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Sensorineural hearing impair... OMIM:270500
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Generalized hypotonia, Limb ataxia, Somatic sensory dysfunction, Progressive... ORPHA:98763
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Dysmetria, Babinski sign OMIM:618093
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Slowed slurred speec... OMIM:172500
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Infantile Convulsions And Choreoathetosis
Dystonia, Chorea, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Choreoathetosis ORPHA:31709
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia OMIM:250800
D-Glyceric Aciduria
Neonatal hypotonia, Muscular hypotonia of the trunk, Opisthotonus, Spastic tetraplegia, Myoclonus OMIM:220120
N-Acetylaspartate Deficiency
Generalized hypotonia, Truncal ataxia, Stereotypy OMIM:614063
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia ORPHA:85162
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia Type 17
Dystonia, Chorea, Abnormal pyramidal sign, Blepharospasm, Ataxia, Writer's cramp, Torticollis, Pa... ORPHA:98759
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Action tremor, Ataxia, Intention tremor OMIM:302500
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykines... OMIM:213600
Congenital Disorder Of Glycosylation, Type Ip
Opisthotonus, Neonatal hypotonia OMIM:613661
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Babinski sign, Intention tremor, Choreoathetosis ORPHA:98890
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Muscular hypotonia of the trunk, Choreoathetosis, Spasticity OMIM:612438
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Atrial Standstill
Cardiac conduction abnormality, Sick sinus syndrome, Cardiomyopathy, Syncope, Reduced ejection fr... ORPHA:1344
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Generalized hypotonia, Chorea, Hyperkinetic movements, Involuntary movements, Athetosis... OMIM:617493
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Or... ORPHA:248111
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Neonatal hypotonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreo... OMIM:245348
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Hearing impairment, Impaired pain sensation ORPHA:101075
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive spastic paraplegia ORPHA:401820
Developmental And Epileptic Encephalopathy 58
Generalized hypotonia, Spastic diplegia, Stereotypy OMIM:617830
Glutaric Acidemia I
Dystonia, Generalized hypotonia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Hypot... OMIM:231670
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Ventricular fibrillation, Profound sensorineural hearing impairme... ORPHA:90647
Dystonia 23
Axial dystonia, Head tremor, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Torticollis, Babinski sign, Limb dystonia, Frequent falls, Choreoathetosis, Hypotonia OMIM:619054
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Sydenham Chorea
Chorea, Generalized hypotonia, Hemiballismus ORPHA:306731
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Hypotonia, Neonatal hypotonia, Tetraplegia, Choreoathetosis, Spasticity OMIM:616034
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... OMIM:617672
Familial Infantile Bilateral Striatal Necrosis
Cogwheel rigidity, Choreoathetosis, Gait ataxia, Dystonia, Hypertonia, Spastic tetraparesis, Tetr... ORPHA:225154
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Generalized hypotonia, Hypotonia, Ataxia, Dysmetria, Intention tremor, S... OMIM:608029
Dilated Cardiomyopathy With Ataxia
Dystonia, Action tremor, Ataxia, Lower limb spasticity, Muscular ventricular septal defect, Prolo... ORPHA:66634
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Generalized neonatal hypotonia, Action tremor, Intention tremor, Freq... ORPHA:314978
Familial Progressive Cardiac Conduction Defect
Vertigo, Bundle branch block, Arrhythmia, Congestive heart failure, Heart block, Syncope ORPHA:871
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Blepharospasm, Torticollis, Generalized dystonia, Limb dystonia, Involu... ORPHA:99657
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Torticol... ORPHA:397946
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Rigidity, Hyperkinetic movements, Limb hypertonia, Severe muscular hypotonia, C... OMIM:233910
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Parkinsonism, Motor tics OMIM:615483
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Developmental And Epileptic Encephalopathy 78
Generalized hypotonia, Hypotonia, Chorea, Neonatal hypotonia, Cerebral palsy, Spasticity OMIM:618557
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Ataxia, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Sensorineural hearing impairment, Impaired vibration sensation in the lower l... ORPHA:352675
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Generalized hypotonia, Abnormal pyramidal sign, Ataxia, Myoclonus, Hypotonia OMIM:612016
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Bradykinesia, Ankle clonus, Muscular hypotonia of the trunk, Parkinsonism, Babi... OMIM:617013
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Hearing impairment, Impaired pain sensation ORPHA:101078
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Developmental And Epileptic Encephalopathy 84
Dystonia, Generalized hypotonia, Chorea, Muscular hypotonia of the trunk, Opisthotonus, Babinski ... OMIM:618792
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Stereotypy, Hyperactivity OMIM:615541
Geniospasm 1
Chin myoclonus OMIM:190100
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia, Hypotonia OMIM:618709
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Developmental And Epileptic Encephalopathy 1
Dystonia, Erratic myoclonus, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Muscular ... OMIM:308350
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Generalized hypotonia, Ataxia OMIM:619099
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia, Spastic dysarthria ORPHA:401830
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Chorea, Resting tremor, Ataxia, Progressi... ORPHA:401768
Leukodystrophy, Hypomyelinating, 2
Dystonia, Choreoathetosis, Spastic paraparesis, Head titubation, Ataxia, Muscular hypotonia of th... OMIM:608804
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Generalized hypotonia, Stereotypy, Spasticity OMIM:617393
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Generalized hypotonia, Chorea, Oculomotor apraxia, Ata... ORPHA:251347
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity OMIM:618917
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Lower limb spasticity, Fre... OMIM:604391
Epilepsy, Progressive Myoclonic, 11
Rigidity, Myoclonus, Ataxia, Intention tremor OMIM:618876
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, Gastroesophageal reflux, Absent brainstem auditory responses, Sensorineural hearing im... OMIM:617519
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism, Limb dystonia ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Generalized hypotonia, Hypotonia, Limb ataxia, Ataxia, Dysme... OMIM:213200
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Incoordination, Arrhythmia, Abnormality of extrapyramidal motor function, Global brain ... ORPHA:480864
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Poor fine motor coordination, Sick sinus syndrome, Ventricular escape rhythm, Prolong... ORPHA:542306
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglion... OMIM:609136
Distal Monosomy 10Q
Cochlear malformation, High palate, Poor fine motor coordination, Oculomotor apraxia, Ataxia, Abn... ORPHA:96148
Lesch-Nyhan Syndrome
Dystonia, Generalized hypotonia, Hypotonia, Abnormality of extrapyramidal motor function, Opistho... OMIM:300322
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypotonia, Hypertonia, Hemiballis... OMIM:618877
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Myoclonus, Dysmetria,... ORPHA:79263
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Dystonia, Gait ataxia, Gait disturbance, Poor coordination, Spastic diplegia,... OMIM:616878
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Tremor, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:1368
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Hearing impairment, Third degree atrioventricular block, Ataxia ORPHA:480
Developmental And Epileptic Encephalopathy 6B
Dystonia, Chorea, Hyperkinetic movements, Ataxia, Muscular hypotonia of the trunk, Myoclonus, Ste... OMIM:619317
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Dystonia, Generalized hypotonia, Chorea, Ataxia, Involuntary movements OMIM:617804
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Prolonged QT interval, Left ventricular hypertr... ORPHA:251274
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Dystonia OMIM:615473
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, High palate, Optic atrophy, Spasticity OMIM:300983
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Dysmetria, Intention tremor OMIM:616948
Tetanus
Tremor, Hypertonia, Spasticity of pharyngeal muscles, Opisthotonus, Rigidity ORPHA:3299
Salt And Pepper Developmental Regression Syndrome
Generalized hypotonia, Choreoathetosis, Myoclonus, Hypotonia OMIM:609056
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy, Hyperactivity OMIM:609425
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Dystonia, Writer's cramp, Torticollis, Myoclonus, Limb myoclonus ORPHA:36899
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Infantile axial hypotonia, Parkinsonism, Babinski s... ORPHA:521406
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Torticollis, Dys... ORPHA:276193
Hyperprolinemia, Type I
Stereotypy, Generalized hypotonia, Ataxia, Hypotonia OMIM:239500
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ataxia, Myoclonus, Infantile muscular hypotonia, Choreoath... ORPHA:391417
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Generalized hypotonia, Choreoathetosis, Ataxia OMIM:618416
Canavan Disease
Opisthotonus, Hypotonia OMIM:271900
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Chorea, Spasticity, Stereotypy, Hypotonia ORPHA:88616
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Dystonia, Chorea, Babinski sign, Choreoathetosis, Spasticity OMIM:618451
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Extrapyramidal dyskinesia OMIM:277470
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Hypotonia ORPHA:397933
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Decreased body weight, Hyperactivity OMIM:608747
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Neonatal hypotonia, Spasticity OMIM:610678
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Rett Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical atrophy, Abnormal T-wave, Gait apraxia, ... OMIM:312750
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Aceruloplasminemia
Cogwheel rigidity, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Ataxia, T... OMIM:604290
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Abnormal pyramidal sign, Lower limb hypertonia, Progressive cerebellar a... ORPHA:1177
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, Vertigo, T-wave inversion, Ventricular tachycardia, ... OMIM:608758
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Dysphagia, Poor coordination, Ataxi... OMIM:617695
Spinocerebellar Ataxia 35
Incoordination, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Facial hypotonia, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis OMIM:300055
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Parkinsonism, Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:162350
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Huntington Disease-Like 3
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... OMIM:604802
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hypot... ORPHA:445038
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Generalized hypotonia, Chorea, Slurred speech, Poor fine... ORPHA:157941
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen ovale, Tetralogy o... OMIM:601005
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Increased QRS voltage, Left ventricular hypertrop... OMIM:619040
Spinal Muscular Atrophy, Type Iv
Tongue fasciculations, Hand tremor OMIM:271150
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torsion dystonia, Torticollis OMIM:224500
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Myoclonic spasms, Prolonged QT interval, Paresthesia ORPHA:94090
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Head tremor, Difficulty walking, Progressive cerebellar ataxi... ORPHA:95433
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Hand tremor, Limb fasciculations OMIM:253400
Episodic Ataxia Type 4
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Cerebral atrophy, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Apert Syndrome
Narrow palate, Ovarian neoplasm, Conductive hearing impairment, Esophageal atresia, Ectopic anus,... ORPHA:87
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231169
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Hearing impairment, Impaired pain sensation ORPHA:99014
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal s... ORPHA:500180
Spinocerebellar Ataxia 47
Generalized hypotonia, Chorea, Ataxia, Dysmetria, Spasticity OMIM:617931
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Low-set ea... OMIM:619092
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Frequent falls, Myoclonic spasms, Rigidity OMIM:184850
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Frequent falls, Generalized dystonia, Spasticity ORPHA:216866
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Hypsarrhythmia, Gastroesophageal reflux, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Generalized hypotonia, Hypertonia, Ataxia, Generalized dystonia, Infantile muscular h... OMIM:272300
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Gabriele-De Vries Syndrome
Dystonia, Tremor, Abnormality of the pinna, Posteriorly rotated ears, Waddling gait OMIM:617557
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Generalized hypotonia, Spastic tetraplegia, Choreoathetosis, Spasticity OMIM:618238
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Chiari Malformation Type Ii
Opisthotonus, Generalized hypotonia, Ataxia, Hypotonia OMIM:207950
Pontocerebellar Hypoplasia, Type 2E
Neonatal hypotonia, Hypertonia, Opisthotonus, Spastic tetraplegia, Myoclonus, Spasticity OMIM:615851
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Dysphagia, Constipation, Gastroesophageal reflux, Stere... DECIPHER:45
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Periodic hypokalemic paresis, Prominent U wave, Periodic paralysis, Low-set ears, B... OMIM:170390
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Mental Retardation, Autosomal Recessive 48
Inability to walk, Kinetic tremor, Waddling gait, Macrotia OMIM:616269
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Hearing impairment, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Combined Saposin Deficiency
Generalized hypotonia, Hyperkinetic movements, Myoclonus, Babinski sign, Fasciculations, Hypotonia OMIM:611721
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Int... OMIM:617964
Pendred Syndrome
Compensated hypothyroidism, Goiter, Cochlear malformation, Vestibular dysfunction, Thyroid carcin... OMIM:274600
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Gm2-Gangliosidosis, Ab Variant
Dystonia, Generalized hypotonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesi... OMIM:272750
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Opisthotonus, Generalized hypotonia, Hypotonia OMIM:210200
Congenital Sialidosis Type 2
Abnormal heart morphology, Ataxia, Low-set ears, Hepatomegaly, Hearing impairment, Myoclonus, Dys... ORPHA:93400
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Generalized hypotonia, Ataxia, Bradykinesia, Rigidity OMIM:617836
Mental Retardation, Autosomal Recessive 41
Generalized hypotonia, Stereotypy, Hypotonia OMIM:615637
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Blepharospasm, Writer's cramp, Oromandibular dystonia, Torticollis,... OMIM:602124
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Mitochondrial Dna Depletion Syndrome 17
Chorea, Spastic tetraparesis, Hemiballismus OMIM:618567
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Myoclonus, Dysmetria OMIM:619028
Valinemia
Hyperkinetic movements OMIM:277100
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Dysphagia, Gastroesophageal reflux, Stereotypy ORPHA:85278
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized hypotonia, Hypertonia, Muscular hypotonia of the trunk, Opisthotonus, Hypotonia OMIM:615501
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Generalized hypotonia, Chorea, Slurred speech, Bra... ORPHA:98755
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Friedreich Ataxia
Gait ataxia, Abnormal echocardiogram, Impaired vibratory sensation, Decreased amplitude of sensor... OMIM:229300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Dystonia, Truncal ataxia, Macrotia, Atrioventricular block, Intention tremor... OMIM:614407
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Generalized hypotonia, Myoclonus OMIM:617235
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Lower limb spasticity, Babinsk... ORPHA:100988
Pettigrew Syndrome
Gait ataxia, Generalized hypotonia, Spasticity, Choreoathetosis, Hypotonia OMIM:304340
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Myo... ORPHA:139485
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Chorea, Athetosis, Generalized hypotonia, Hypotonia OMIM:309541
Adenylosuccinase Deficiency
Gait ataxia, Generalized hypotonia, Spasticity, Opisthotonus, Myoclonus, Hypotonia OMIM:103050
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Hand tremor OMIM:253550
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Vertigo, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inv... ORPHA:263297
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Constipation, Abnormality of the outer ear, Hearing ... OMIM:182290
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
Gitelman Syndrome
Palpitations, Vertigo, Paresthesia, Low-to-normal blood pressure, ST segment depression, Prominen... ORPHA:358
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Hearing impairment, Babinski sign, Distal sensory impairment, Steppage gait, ... OMIM:609260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Low-set ears, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Infantile muscular hypotonia, Spasticity ORPHA:500545
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Hypertonia, Neonatal hypotonia, Spastic tetraplegia, Spasticity OMIM:617864
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Pelizaeus-Merzbacher Disease