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
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements, Involuntary movements OMIM:616939
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxi... ORPHA:401901
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Aggressive behavior, Lower limb spasticity, Torsion dystonia, Chorea, Invo... ORPHA:98811
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Axial hypotonia, Dystonia, Ataxia OMIM:618425
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Hypotonia, Myoc... OMIM:159900
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Axial hypotonia, Motor stereotypy, Self-injurious behavior, Choreoathetosis,... OMIM:617270
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Vertigo, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Agitation, Oculogyric crisis, Abnormality of ex... ORPHA:13
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Generalized hypotonia, Hypotonia, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Chorea, Axial hypotonia, Dystonia, Ataxia, Inappropriate laughter, Motor s... OMIM:619150
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Axial hypotonia OMIM:616921
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Axial hypotonia ORPHA:494526
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Lingual dystonia, Poor motor coordination, Frequent falls,... OMIM:500003
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be... ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Hypotonia, Bruxism, Aggressive behavior ORPHA:356996
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Guanidinoacetate Methyltransferase Deficiency
Abnormality of extrapyramidal motor function, Chorea, Hyperactivity, Athetosis, Progressive extra... ORPHA:382
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing, Axial hypotonia, Dystonia, Self-injurious behavior OMIM:618760
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibrati... OMIM:300905
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Involuntary movements, Motor stereotypy, Hypotonia, Aggressive behavior OMIM:617171
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Huntington Disease-Like 1
Chorea, Incoordination, Rigidity, Restlessness, Dysmetria, Aggressive behavior OMIM:603218
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Chorea, Benign Hereditary
Chorea, Frequent falls OMIM:118700
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia, Hearing impairment, Impaired vibratory sensation ORPHA:217012
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception... ORPHA:251282
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Ataxia, Dysphagia, Hypotonia, Generalized dystonia, Cho... OMIM:620427
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Chorea, Benign Familial
Chorea OMIM:215450
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Writer's cramp, Compulsive behaviors, Dystonia, Myoclonus, Limb my... ORPHA:36899
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
Paroxysmal Nonkinesigenic Dyskinesia 1
Dysphagia, Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Apraxia, Spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Opisthotonus, Parkinsonism,... OMIM:619653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea, Hypotonia, Generalized hypotonia OMIM:614055
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Dystonia, Torticollis, Involuntary movements OMIM:620245
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Chorea, Craniofacial dystonia, Frequent falls, Gai... OMIM:607483
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Deafness, Autosomal Recessive 104
Positive Romberg sign, Prelingual sensorineural hearing impairment, Abnormal vestibular function,... OMIM:616515
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Axial hypo... OMIM:606703
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Rigidity, Hypotonia, Myoclonus, Ch... OMIM:616981
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism... OMIM:619738
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Hearing impairment, Obesity, A... OMIM:620270
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:620482
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Hyperkinetic movements, Oculogyric crisis, Chorea, Spasticity, Stereotypical hand wringing, Dysto... OMIM:614254
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia OMIM:213000
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Compulsive behaviors, Axial hypotonia, Dystonia, Myoclonus OMIM:619651
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Dystonia, Ataxia, Parkinsonism, Dysphagia, Abnormal pyramidal sign, Dysmetr... OMIM:618317
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Axial hypotonia, Dystonia, Myoclonus ORPHA:324588
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
3-Methylglutaconic Aciduria, Type Iii
Babinski sign, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Ataxia OMIM:258501
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysphagia, Dysmetria OMIM:618093
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Positive Romberg sign, Gait ataxia, Intention tremor,... OMIM:607136
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Sydenham Chorea
Inappropriate behavior, Hemiballismus, Chorea, Compulsive behaviors, Generalized hypotonia ORPHA:306731
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Dysphagia OMIM:607674
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait, Macrotia, Inappropriate laughter, Self-mutilation, Aggr... OMIM:616269
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Oromandibular dystonia, Lower limb spasticity, Axial dystonia, Retrocollis, Chorea, C... ORPHA:300605
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Dystonia, Mot... OMIM:618917
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Parkinsonism, Motor tics, Postural tremor, Hand tremor OMIM:615483
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Limb hypertonia, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Impaired pain ... ORPHA:500180
Striatonigral Degeneration, Infantile
Spasticity, Dystonia, Dysphagia, Choreoathetosis OMIM:271930
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Impulsivity, Self-injurious behavior OMIM:300615
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Bilateral sensorineural hearing impairment, Ventricular fibrillation, Arr... ORPHA:90647
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Huntington Disease-Like 2
Chorea, Dystonia, Parkinsonism, Involuntary movements ORPHA:98934
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Involuntary movements, Dystonia, Hypotonia, Motor stereotypy, Self-injurious behavior OMIM:617820
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Vertigo, Bundle branch block, Arrhythmia, Syncope ORPHA:871
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Chorea, Gait ataxia, Rigidity, Dyston... ORPHA:248111
Infantile Convulsions And Choreoathetosis
Paroxysmal dyskinesia, Chorea, Athetosis, Involuntary movements, Dystonia, Choreoathetosis ORPHA:31709
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Tremor, Myoclonus, C... ORPHA:363710
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Dysphagia, Paresthesia ORPHA:85162
Pontocerebellar Hypoplasia, Type 2B
Babinski sign, Limb hypertonia, Chorea, Spasticity, Clonus, Axial hypotonia, Dystonia, Opisthoton... OMIM:612389
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Developmental And Epileptic Encephalopathy 27
Chorea, Spasticity, Axial hypotonia, Dystonia, Hypotonia, Myoclonus OMIM:616139
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Gastroesophageal refl... ORPHA:251061
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypotonia OMIM:619561
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Involuntary movements, Dystonia, Dysphagia... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Intellectual Developmental Disorder, Autosomal Recessive 77
Self-biting, Head tremor OMIM:619988
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Progressive extrapyramidal muscular ri... ORPHA:240103
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Pandas
Anorexia, Obsessive-compulsive trait, Abnormal fear-induced behavior, Chorea, Impulsivity, Opposi... ORPHA:66624
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Axial hypotonia, Dystonia, Myoclonus OMIM:619647
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Dystonia 6, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Migraine, Familial Hemiplegic, 1
Agitation, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Snijders Blok-Fisher Syndrome
Facial hypotonia, Spasticity, Opisthotonus, Generalized hypotonia, Choreoathetosis OMIM:618604
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Fasciculations, Chorea, Gait ataxia, Dystonia, Parkinsonism, Gener... ORPHA:98756
Infantile Dystonia-Parkinsonism
Bradykinesia, Hypertonia, Oculogyric crisis, Limb hypertonia, Chorea, Cerebral palsy, Axial hypot... ORPHA:238455
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Generalized hypotonia, Myoclonus OMIM:618587
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Somatic sensory dysfunction, Gait ataxia ORPHA:423296
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ataxia, Axial hypot... OMIM:619580
Pendred Syndrome
Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot... ORPHA:705
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Ravine Syndrome
Anorexia, Atrophy/Degeneration affecting the brainstem, Decreased body weight, Abnormal auditory ... ORPHA:99852
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Neonatal hypotonia, Ataxia OMIM:300703
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapar... OMIM:615924
Rett Syndrome
Prolonged QTc interval, Truncal ataxia, Cachexia, Stereotypical hand wringing, Gait ataxia, Cereb... OMIM:312750
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Pontocerebellar Hypoplasia, Type 2A
Chorea, Dystonia, Opisthotonus, Extrapyramidal dyskinesia, Dysphagia, Restlessness OMIM:277470
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor, Generalized hypotonia OMIM:264070
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Dysphagia, Postu... ORPHA:210571
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Spastic tetraparesis, Hypotonia, Motor stereotypy, Aggressive behavior OMIM:619470
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior OMIM:276880
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Myoclonus, Intention t... ORPHA:2589
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Familial Hyperaldosteronism Type Iii
Polydipsia, Prolonged QT interval, Hypertension, Tinnitus, Epistaxis, Intracranial hemorrhage, Le... ORPHA:251274
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Generalized hypotonia, Hypotonia, Aggressive behavior OMIM:239500
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Huntington Disease-Like 3
Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular rigidity, Spasticit... ORPHA:157946
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Dysphagia, Hypotonia, Myoclonus, Choreoathetosis OMIM:261630
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Hearing impairment, Tremor, Distal sensory impairment OMIM:614369
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Vertigo, Gait ataxia, Intention tremor... ORPHA:101110
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Chorea, Axial hypotonia, Dystonia, Ataxia, Hypotonia, Myoclonus, Motor st... OMIM:619317
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Abnormality of extrapyramidal motor function, Intention tremor, Action tremor... OMIM:302500
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy, Hypotonia OMIM:618709
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Pontocerebellar Hypoplasia, Type 2D
Spastic tetraplegia, Chorea, Clonus, Appendicular spasticity OMIM:613811
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Cerebral palsy, Limb dystonia, Clonus, Opisthotonus, Dysph... OMIM:619847
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Branchiootorenal Syndrome 1
Euthyroid goiter, Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplas... OMIM:113650
Adenylosuccinase Deficiency
Hyperactivity, Spasticity, Gait ataxia, Inappropriate laughter, Opisthotonus, Generalized hypoton... OMIM:103050
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign OMIM:118750
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Muscular ventricular septal defect, Prolonged QT interval, Atrophy/Degeneration af... ORPHA:66634
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Chorea, Gait ataxia, Axial hypotonia, Ataxia, Generalized hypotonia, Dysmetria OMIM:618501
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Dys... ORPHA:79263
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Attention deficit hyperactivity disorder, Opisthotonus, Dysphagia, Ge... ORPHA:216866
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Huntington Disease
Bradykinesia, Chorea, Rigidity, Gait ataxia OMIM:143100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:104290
Spinocerebellar Ataxia Type 17
Torticollis, Writer's cramp, Chorea, Spasticity, Blepharospasm, Involuntary movements, Rigidity, ... ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Axia... OMIM:607317
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Generalized hypotonia, Spastic diplegia OMIM:617830
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Athetosis, Dystonia, Hypotonia, Spastic tetraplegia, Self-injurious behavior OMIM:619922
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Developmental And Epileptic Encephalopathy 103
Eyelid myoclonus, Hyperactivity, Ataxia, Opisthotonus, Hypotonia, Spastic tetraplegia OMIM:619913
Baker-Gordon Syndrome
Neonatal hypotonia, Hyperkinetic movements, Athetoid cerebral palsy, Involuntary movements, Dysto... OMIM:618218
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormality of extrapyramidal motor function, Chorea, Spasticity, Rigidity, Dystonia, Ataxia, Par... OMIM:617672
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Motor stereotypy OMIM:615282
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Rigidity, Dystonia, Disinhibition, Restlessness, Myoclonus... OMIM:600795
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Ataxia, Torticollis, Abnormal head movements ORPHA:71518
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis, Self-mutilation OMIM:308950
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Fai... OMIM:610198
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Chorea, Generalized hypotonia ORPHA:79137
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Hepatomegaly, Pr... ORPHA:57777
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Axial hypotonia, Dystonia, Dysphagia, Mo... OMIM:617435
Tetanus
Hypertonia, Tremor, Rigidity, Opisthotonus, Dysphagia, Spasticity of pharyngeal muscles ORPHA:3299
Huntington Disease
Bradykinesia, Babinski sign, Agitation, Oral-pharyngeal dysphagia, Chorea, Poor fine motor coordi... ORPHA:399
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Impaired oral bolus formation, Dysphagia, Hypotonia, Myoclonus OMIM:617235
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia OMIM:224500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Craniofacial ... OMIM:617282
Developmental And Epileptic Encephalopathy 101
Axial hypotonia, Opisthotonus, Hypotonia, Myoclonus OMIM:619814
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus OMIM:614860
D-Glyceric Aciduria
Neonatal hypotonia, Tongue thrusting, Appendicular spasticity, Spasticity, Axial hypotonia, Opist... OMIM:220120
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Low-set ears, Motor stereotypy, Self-injuri... OMIM:618718
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Chorea, Incoordination, Poor fine motor coordination, Frequen... ORPHA:157941
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism, Dysphagia OMIM:128235
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia, Hypotonia, Attention deficit hyperactivity disorder OMIM:616421
Developmental And Epileptic Encephalopathy 84
Babinski sign, Chorea, Spasticity, Axial hypotonia, Dystonia, Opisthotonus, Generalized hypotonia OMIM:618792
Developmental And Epileptic Encephalopathy 78
Neonatal hypotonia, Chorea, Spasticity, Cerebral palsy, Hypotonia, Generalized hypotonia OMIM:618557
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Generalized hypotonia,... ORPHA:98763
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Prolonged QT interval, Broad-based gait, Gai... OMIM:300352
Lesch-Nyhan Syndrome
Abnormality of extrapyramidal motor function, Spasticity, Dystonia, Opisthotonus, Dysphagia, Hypo... OMIM:300322
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Alternating Hemiplegia Of Childhood 2
Tetraplegia, Dystonia, Ataxia, Episodic quadriplegia, Hemiplegia, Choreoathetosis OMIM:614820
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Dysphagia, Impaired vibrato... OMIM:620221
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment, Difficulty walking OMIM:615048
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Attention deficit hyperactivity d... OMIM:617600
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, Ataxia, Aggressive behavior OMIM:300983
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Apert Syndrome
Narrow palate, Optic atrophy, Ovarian neoplasm, Esophageal atresia, Sensorineural hearing impairm... ORPHA:87
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involuntary movements, Prog... ORPHA:401768
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Babinski sign, Positive Romberg sign, Spasticity, Dystonia, Ataxia, Dysphagia, Hypotonia, Choreoa... OMIM:618088
Distal Deletion 10Q
Facial diplegia, High palate, Low-set ears, Anal atresia, Cochlear malformation, Attention defici... ORPHA:96148
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal EKG, Dysphagia, Progressive gait ataxia, Somatic sensory ... ORPHA:1177
Kearns-Sayre Syndrome
Hearing impairment, Third degree atrioventricular block, Ataxia ORPHA:480
Ataxia-Telangiectasia-Like Disorder
Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, Dy... ORPHA:251347
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment, Ataxia ORPHA:101075
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Mepan Syndrome
Axial dystonia, Chorea, Spasticity, Craniofacial dystonia, Limb dystonia, Dystonia, Ataxia, Dysph... ORPHA:508093
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Vertigo, Ventricular hypertro... ORPHA:263297
Developmental And Epileptic Encephalopathy 107
Axial hypotonia, Appendicular hypotonia, Motor stereotypy, Hypotonia OMIM:620033
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia, Prolonged QTc interval, Sensorineural... OMIM:616878
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing, Hypotonia ORPHA:397933
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Myoclonus, Involuntary movements, Clonus, Choking episodes, Opisthotonus... OMIM:620352
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Dys... OMIM:619028
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Dys... ORPHA:309246
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Dystonia OMIM:615473
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxi... OMIM:604391
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Episodic Ataxia Type 4
Vertigo, Incoordination, Frequent falls, Ataxia, Abnormal head movements ORPHA:79136
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Global brain atrophy, Prolonged QT interval, Sensorineural hearing impairment, Dys... ORPHA:480864
Chiari Malformation Type Ii
Ataxia, Dysphagia, Hypotonia, Opisthotonus, Generalized hypotonia OMIM:207950
Lichtenstein-Knorr Syndrome
Limb ataxia, Vestibular hypofunction, Sensorineural hearing impairment, Dysdiadochokinesis, Gait ... OMIM:616291
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, Sensorineural hearing impairment, High palate, Facial palsy, Absent brai... OMIM:617519
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:616710
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Dystonia, Opisthotonus, Hypotonia, Myoclonus, Tetraparesis, Severe muscular hypotonia OMIM:616672
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Lower limb spasticity, Hyperactivity, Chorea, Impulsivity, Gait ataxia, Hypotonia, Self-mutilatio... OMIM:620445
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment, Ataxia ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Left ventricular hypertrophy OMIM:619040
Glutaric Acidemia I
Rigidity, Dystonia, Opisthotonus, Hypotonia, Generalized hypotonia, Choreoathetosis, Spastic dipl... OMIM:231670
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ... OMIM:182290
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Posteriorly rotated ears, Recurrent hand flapping OMIM:618147
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Lower limb spasticity, Hyperactivity, Chorea, Compulsive behaviors... ORPHA:485350
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Difficulty walking, Distal sensory impairment, Sensorineural hearing impairment, I... ORPHA:352675
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Impaired tactile sensation, Resting tremo... OMIM:617225
Pendred Syndrome
Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ... OMIM:274600
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Opisthotonus, Hypotonia OMIM:613661
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Gastroesophageal reflux, Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivi... OMIM:620292
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Axial hypotonia, Hypertonia, Opisthotonus OMIM:616896
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Hypotonia, Generalized hypotonia, Clumsiness, ... OMIM:608029
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Deafness, X-Linked 5, With Peripheral Neuropathy
Distal sensory impairment, Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Unst... OMIM:300614
Stxbp1-Related Encephalopathy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Hypotonia, Spastic tetraplegia ORPHA:599373
Developmental And Epileptic Encephalopathy 110
Chorea, Spasticity, Axial hypotonia, Pain insensitivity, Hypotonia, Bruxism OMIM:620149
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Hypertonia, Chorea, Spasticity, Cerebral palsy, Axial hypotonia, Dystonia, Choreoa... OMIM:618451
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy e... OMIM:619092
Stiff-Person Syndrome
Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus OMIM:184850
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia ORPHA:67047
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Axial hypotonia, Dystonia, Ataxia, Dysphagia, Hypotonia, Dysmetria OMIM:617916
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Dysph... OMIM:607346
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Parkinsonism, Involuntary movements OMIM:616413
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Chorea, Athetosis, Hypotonia, Choreoathetosis OMIM:309541
Gitelman Syndrome
Polydipsia, Prolonged QT interval, Paresthesia, Prominent U wave, Vertigo, Low-to-normal blood pr... ORPHA:358
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Spastic paraplegia, Ataxia, Op... OMIM:614969
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Pontocerebellar Hypoplasia, Type 11
Anal atresia, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Se... OMIM:617695
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Apraxia, Tongue thrustin... ORPHA:3095
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Heari... OMIM:617145
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Progressive extrapyramidal ... ORPHA:445038
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor... ORPHA:2590
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Generalized hypotonia, Mo... OMIM:613670
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Absent internal auditory canal, Profound sensorineural hearing impairment, Self-in... OMIM:620469
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Schimke X-Linked Mental Retardation Syndrome
Spasticity, Choreoathetosis OMIM:312840
Xq28 (MECP2) duplication
Gastroesophageal reflux, Constipation, Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401835
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, High palate, Compulsive behaviors, Recurrent hand flapping, Cleft palate, Attention... OMIM:620021
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Chorea, Dys... ORPHA:98755
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... ORPHA:231169
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Aminoacylase 1 Deficiency
Cerebral atrophy, Bradycardia, Hyperactivity, Sensorineural hearing impairment, Cerebellar atroph... OMIM:609924
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypotonia, Hyperkinetic movements, Spasticity, Tremor, Dystonia, Ataxia, Opisthotonus, H... OMIM:616271
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Coffin-Siris Syndrome 6
High, narrow palate, Gastroesophageal reflux, Low-set ears, Constipation, Conductive hearing impa... OMIM:617808
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Sensorineural hearing impairment, Tremor, Adult onset sensorineural hearing impairmen... ORPHA:1368
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Bruxism, Stereotypical hand wringing, Dystonia, Hypotonia, Myoclonus, Cho... OMIM:618497
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Developmental And Epileptic Encephalopathy 40
Spasticity, Spastic tetraparesis, Axial hypotonia, Hypotonia, Myoclonus, Choreoathetosis OMIM:617065
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Pontocerebellar Hypoplasia, Type 2E
Neonatal hypotonia, Hypertonia, Spasticity, Opisthotonus, Myoclonus, Spastic tetraplegia OMIM:615851
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... ORPHA:225147
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Truncal ataxia, Intention tremor, Macrotia, Dystonia, Atrioventricular block, Promin... OMIM:614407
Neuroferritinopathy
Bradykinesia, Babinski sign, Writer's cramp, Leg dystonia, Resting tremor, Chorea, Blepharospasm,... ORPHA:157846
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Neonatal Lupus Erythematosus
Hepatomegaly, Prolonged QT interval, Heart block, Abnormal heart morphology, Splenomegaly, Arrhyt... ORPHA:398124
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Huntington Disease-Like 3
Abnormality of extrapyramidal motor function, Chorea, Spasticity, Dystonia, Ataxia, Abnormal pyra... OMIM:604802
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Hypotonia, Myoclonus, Spastic paraparesi... ORPHA:726
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Posteriorly rotated ears, Recurrent hand flapping, Impulsivity OMIM:619717
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Spinocerebellar Ataxia 1
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Fasciculation... OMIM:164400
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Pyruvate Dehydrogenase E2 Deficiency
Neonatal hypotonia, Jerky head movements, Paroxysmal dystonia, Oculomotor apraxia, Dystonia, Atax... OMIM:245348
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Impai... OMIM:208920
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Truncal ataxia, Action myoclonus, Myoclonus, Choreoathetosis OMIM:616230
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Prolonged QT interval, Paresthesia ORPHA:94090
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, High palate, Low-set ears, Attention deficit hyp... OMIM:618342
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal pyramidal sign, Parkins... OMIM:612067
Aceruloplasminemia
Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwheel rigidi... OMIM:604290
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormality of the internal auditory canal, Progressive sensorineural hearing im... ORPHA:90646
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Christianson Syndrome
Gastroesophageal reflux, Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Multiple Mitochondrial Dysfunctions Syndrome 1
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Axial hypotonia, Opisthotonus... OMIM:605711
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis, Aggressive behavior ORPHA:329284
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Impaired vibration sensati... ORPHA:95433
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Vertigo, Tongue fasciculations, T... ORPHA:276198
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
Canavan Disease
Abnormal pyramidal sign, Opisthotonus, Hypotonia OMIM:271900
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Axial hypotonia, Rigidity, Dystonia, Ataxia, P... OMIM:261640
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Optic nerve hypoplasia, Low-set ears, Pulmonary arterial hypertension, Int... OMIM:620029
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
X-Linked Creatine Transporter Deficiency
Hypertonia, Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Hypotonia, Self-mutilation ORPHA:52503
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Limb hypertonia, Chorea, Hemiparesis, Dystonia, Hypotonia, Motor stereotypy,... OMIM:618004
Potocki-Lupski Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hyperactivity, High palate, Hearing impairmen... OMIM:610883
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Low-set ears, Ataxia OMIM:618951