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 QTc interval, Syncope OMIM:611820
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Long Qt Syndrome 12
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation OMIM:612955
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Primary Dystonia, Dyt13 Type
Torsion dystonia, Limb dystonia, Jerky head movements, Torticollis, Postural tremor, Generalized ... ORPHA:98807
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... OMIM:612347
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Axial hypotonia, Dystonia OMIM:618425
Episodic Ataxia, Type 1
Tremor, Vertigo, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Paroxysmal Non-Kinesigenic Dyskinesia
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Choreoathetosis, Dy... ORPHA:98810
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Axial hypotonia, Hemiballismus OMIM:616921
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Clonus, Hypotonia, Motor tics, Paroxysmal choreoathetosis, Chorea, Myoclonus, Bab... OMIM:500003
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Dentatorubral-Pallidoluysian Atrophy
Parkinsonism, Ataxia, Chorea, Myoclonus, Choreoathetosis, Dystonia OMIM:125370
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:619491
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Paroxysmal Exertion-Induced Dyskinesia
Paresthesia, Dystonia, Ataxia, Chorea, Torsion dystonia, Involuntary movements, Choreoathetosis, ... ORPHA:98811
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Axial hypotonia, Hemiballismus ORPHA:494526
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Neurodegeneration With Brain Iron Accumulation
Spasticity, Abnormality of extrapyramidal motor function, Rigidity, Chorea, Dystonia ORPHA:385
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Hand tremor, Impaired distal vibration sensation, Steppage gait, Sensori... OMIM:300905
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Ataxia, Bruxism, Chorea, Axial hypotonia, Abnormal repetitive mannerisms, Dyst... OMIM:619150
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... ORPHA:216873
Paroxysmal Kinesigenic Dyskinesia
Chorea, Writer's cramp, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Spinocerebellar Ataxia Type 31
Spasticity, Hearing impairment, Tremor, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hyperkinetic movements, Ataxia, Clonus, Hypotonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:13
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity ORPHA:401840
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Chorea, Dystonia, Stereotypical hand wringing OMIM:618760
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:617787
Acetyl-Coa Acetyltransferase-2 Deficiency
Hypotonia, Generalized hypotonia, Chorea OMIM:614055
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Chorea, Benign Familial
Chorea OMIM:215450
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Parkinsonism, Apraxia, Generalized dystonia, Opisthotonus, Axial hypotonia, Spastic t... OMIM:619653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602086
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms OMIM:300425
Dystonia 11, Myoclonic
Torticollis, Hypotonia, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Hypotonia, Spasticity, Generalized hypotonia OMIM:615493
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Positive Romberg sign, Abnormal vestibular function,... OMIM:616515
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Spastic gait, Ataxia, Clonus, Lower limb spasticity, Spastic dysarthria, Retrocollis,... OMIM:205100
Intellectual Developmental Disorder, Autosomal Recessive 58
Abnormal repetitive mannerisms, Spastic diplegia, Choreoathetosis, Axial hypotonia OMIM:617270
Chorea, Benign Hereditary
Frequent falls, Chorea OMIM:118700
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Developmental And Epileptic Encephalopathy 37
Spasticity, Hyperkinetic movements, Cogwheel rigidity, Hypotonia, Rigidity, Chorea, Myoclonus, Ch... OMIM:616981
Spinocerebellar Ataxia 43
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... OMIM:602087
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Limb ataxia, Lower limb spasticity, Spastic dysarthria, Impaired propriocep... ORPHA:251282
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Hypotonia, Ataxia OMIM:213000
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Hypotonia, Spasticity ORPHA:356996
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Ataxia, Abnormality of extrapyramidal motor function, Chorea, Babinski sign OMIM:258501
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Axial hypotonia, Dystonia ORPHA:324588
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... OMIM:614561
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Cogwheel rigidity, Paraparesis, Truncal ti... OMIM:607483
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Hypotonia, Chorea, Myoclonus, Resting tremor, Axial hypotonia, Involuntary movem... OMIM:606703
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hypotonia, Abnormal head movements, Abnormality of extrapyramidal motor function, Progres... ORPHA:382
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... OMIM:113900
Sydenham Chorea
Hemiballismus, Generalized hypotonia, Compulsive behaviors, Chorea ORPHA:306731
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Involuntary movements, Choreoathetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Hand tremor, Postural tremor, Motor tics, Chorea, Athetosis OMIM:615483
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Profound sensorineural hearing impairment, Bilateral sensorineural hearin... ORPHA:90647
Cataract 11, Multiple Types
Hypertonia, Chorea OMIM:610623
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... ORPHA:101016
Autism
Abnormal repetitive mannerisms OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms OMIM:607373
Spinocerebellar Ataxia 40
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, S... OMIM:616053
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Motor tics, Chorea, Bradykinesia, Intention tremor, Myoc... OMIM:619725
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Vertigo, Bundle branch block, Congestive heart failure ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... OMIM:617047
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Hypotonia, Involuntary movements OMIM:617171
Huntington Disease-Like 2
Parkinsonism, Involuntary movements, Dystonia, Chorea ORPHA:98934
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... ORPHA:363710
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Hypotonia, Generalized dystoni... OMIM:617013
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... ORPHA:71277
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Axial hypotonia, Compulsive behaviors, Dystonia OMIM:619651
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Hyperkinetic movements, Bruxism, Hypotonia, Oculogyric crisis, Chorea, Myoclonus, Ste... OMIM:614254
Developmental And Epileptic Encephalopathy 27
Spasticity, Hypotonia, Chorea, Myoclonus, Axial hypotonia, Dystonia OMIM:616139
Juvenile Amyotrophic Lateral Sclerosis
Parkinsonism, Ataxia, Clonus, Lower limb spasticity, Axial dystonia, Retrocollis, Head titubation... ORPHA:300605
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Babinski sign, Ataxia, Tremor OMIM:611105
Developmental And Epileptic Encephalopathy 97
Tremor, Hypotonia, Stereotypical hand wringing OMIM:619561
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Myoclonus-Dystonia Syndrome
Limb myoclonus, Torticollis, Dystonia, Writer's cramp, Myoclonus, Compulsive behaviors, Spinal my... ORPHA:36899
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Inability to walk OMIM:606053
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Chorea, Gait ataxia, Stereotypical hand wringing, Abnormal repetitive mannerisms, Com... OMIM:618917
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Axial hypotonia, Dystonia OMIM:619647
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
Dystonia 6, Torsion
Limb dystonia, Torticollis, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Myoclonus... OMIM:602629
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Pendred Syndrome
Goiter, Enlarged vestibular aqueduct, Abnormality of the inner ear, Hyperparathyroidism, Thyroid ... ORPHA:705
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Tremor OMIM:615945
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Spinocerebellar Ataxia Type 2
Parkinsonism, Kinetic tremor, Progressive cerebellar ataxia, Postural tremor, Generalized hypoton... ORPHA:98756
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia OMIM:608636
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Jerky head movements, Somatic sensory dy... ORPHA:240103
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Oculogyric crisis, Chorea, Bradykinesia, ... ORPHA:238455
Snijders Blok-Fisher Syndrome
Spasticity, Choreoathetosis, Generalized hypotonia, Opisthotonus, Facial hypotonia OMIM:618604
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Somatic sensory dysfunction, Difficulty walking ORPHA:423296
Autosomal Spastic Paraplegia Type 72
Spastic gait, Impaired vibration sensation at ankles, Postural tremor, Rigidity ORPHA:401849
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor OMIM:620158
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Generalized hypotonia, Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Hypoesthesia, Ataxia, Chorea, Bradykinesia, Slurred speech... OMIM:618317
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Progressive gait ataxi... ORPHA:2589
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia, Broad-based gait OMIM:614063
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Axial hypotonia, Hypertonia, Opisthotonus OMIM:616896
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave, Dystonia, Bruxism, EEG abnormality, Cachexia, Gait aprax... OMIM:312750
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Huntington Disease-Like 3
Spasticity, Abnormal pyramidal sign, Abnormal head movements, Progressive gait ataxia, Abnormalit... ORPHA:157946
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Ataxia, Isometric tremor, Upper limb postural tremor, Ga... ORPHA:101110
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Pontocerebellar Hypoplasia, Type 2B
Spasticity, Limb hypertonia, Clonus, Hypotonia, Chorea, Opisthotonus, Axial hypotonia, Babinski s... OMIM:612389
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary arterial hypertension, Third heart sound,... ORPHA:99106
Branchiootorenal Syndrome 1
High palate, Cholesteatoma, Conductive hearing impairment, Incomplete partition of the cochlea ty... OMIM:113650
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Ataxia, Hypotonia, Chorea, Myoclonus, Axial hypotonia, Abnormal repetitiv... OMIM:619317
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... OMIM:607136
Ravine Syndrome
Ataxia, Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked... ORPHA:99852
Pontocerebellar Hypoplasia, Type 2D
Chorea, Spastic tetraplegia, Appendicular spasticity, Clonus OMIM:613811
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Impaired distal vibration sensation, Cogwheel rigidity, Parkinsonism wit... OMIM:128230
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Morning myoclonic jerks, Intention tremor, Myoclonus ORPHA:308
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Broad-based gait OMIM:617862
Choreoathetosis, Familial Inverted
Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity OMIM:118750
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Generalized hypotonia, Chorea, Gait ataxia, Axial hypotonia, Dysmetria OMIM:618501
Sandhoff Disease, Adult Form
Spasticity, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia ORPHA:309169
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms OMIM:300271
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
X-Linked Dystonia-Parkinsonism
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... ORPHA:53351
Dilated Cardiomyopathy With Ataxia
Ataxia, Bilateral sensorineural hearing impairment, Atrophy/Degeneration affecting the brainstem,... ORPHA:66634
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Hypotonia, Abnormal repetitive mannerisms, Involuntary movements, Dystonia OMIM:617820
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Ataxia, Chorea OMIM:618683
Huntington Disease-Like 1
Dysmetria, Incoordination, Rigidity, Chorea OMIM:603218
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Dystonia OMIM:104290
Familial Hyperaldosteronism Type Iii
Tinnitus, Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Polydipsia, Epista... ORPHA:251274
Huntington Disease
Gait ataxia, Chorea, Rigidity, Bradykinesia OMIM:143100
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... OMIM:108900
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Woolly Hair Nevus
Enlarged vestibular aqueduct, Precocious puberty ORPHA:79414
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Spinocerebellar Ataxia Type 17
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Ataxia, Blepharospasm, Rigidity, ... ORPHA:98759
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Spastic paraplegia, Episodic ataxia, Choreoathetosis, Dysto... ORPHA:53583
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Rigidity, Chorea, Bradykinesia, Gait ataxia, Oral motor hy... ORPHA:248111
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Generalized hypotonia, Spastic diplegia OMIM:617830
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Nonprogressive cerebellar ataxia, Ataxia, Sudden cardiac death, Fai... OMIM:610198
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... OMIM:611528
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... ORPHA:397946
Episodic Ataxia Type 4
Frequent falls, Ataxia, Abnormal head movements, Vertigo, Incoordination ORPHA:79136
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Action tremor, Dystonia OMIM:606438
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Generalized hypotonia, Chorea ORPHA:79137
Developmental And Epileptic Encephalopathy 101
Axial hypotonia, Hypotonia, Opisthotonus, Myoclonus OMIM:619814
Fraxe Intellectual Disability
Hyperactivity, Agitation, Prominent ear helix, Recurrent hand flapping, Stereotypical body rockin... ORPHA:100973
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... ORPHA:542306
Dystonia 23
Limb dystonia, Torticollis, Axial dystonia, Writer's cramp, Head tremor, Myoclonus OMIM:614860
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cardiomyopathy, Progres... ORPHA:1177
Developmental And Epileptic Encephalopathy 84
Spasticity, Generalized hypotonia, Chorea, Opisthotonus, Axial hypotonia, Babinski sign, Dystonia OMIM:618792
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Hypotonia, Ataxia OMIM:618709
Spinocerebellar Ataxia Type 14
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Generalized hypotonia, R... ORPHA:98763
D-Glyceric Aciduria
Spasticity, Spastic tetraplegia, Hypotonia, Neonatal hypotonia, Opisthotonus, Tongue thrusting, M... OMIM:220120
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Limb hypertonia, Hypotonia, Generalized hypotonia, Gait ataxia, Opisthotonus, Tongue thru... OMIM:619580
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Limb dystonia, Clonus, Babinski sign, Hypotonia, Opisthotonus, M... OMIM:619847
Developmental And Epileptic Encephalopathy 78
Spasticity, Hypotonia, Generalized hypotonia, Chorea, Neonatal hypotonia, Cerebral palsy OMIM:618557
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Alternating Hemiplegia Of Childhood 2
Ataxia, Hemiplegia, Episodic quadriplegia, Tetraplegia, Choreoathetosis, Dystonia OMIM:614820
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Attention deficit hyperactivity disorder, Dysphagia, Abnorma... ORPHA:52368
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Generalized neo... ORPHA:314978
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia OMIM:619738
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea OMIM:607674
Baker-Gordon Syndrome
Athetoid cerebral palsy, Hyperkinetic movements, Ataxia, Neonatal hypotonia, Abnormal repetitive ... OMIM:618218
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ataxia, Hearing impairment ORPHA:480
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Apert Syndrome
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Cleft palate, Narrow palate, Ecto... ORPHA:87
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Oculomotor apraxia, Ataxia, Generalized hypotonia, Chorea, Dysdiadochokinesis, Ga... ORPHA:251347
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Hyperkinetic movements, Generalized hypotonia, Chorea, Athetosis, Involuntary movemen... OMIM:617493
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Attention deficit hyperactivity disorder, Aganglionic megacolon, Fail... OMIM:300352
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Gait disturbance, Ataxia, Hearing impairment, Tremor ORPHA:101075
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Opisthotonus OMIM:250800
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Low-set ears, Abnorm... ORPHA:37553
Deafness, Autosomal Dominant 9
Tinnitus, Abnormality of the vestibulocochlear nerve, Vertigo, Cochlear degeneration, Postlingual... OMIM:601369
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... ORPHA:79263
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Ataxia-Telangiectasia-Like Disorder 1
Frequent falls, Oculomotor apraxia, Ataxia, Lower limb spasticity, Hypotonia, Chorea, Dysdiadocho... OMIM:604391
Developmental And Epileptic Encephalopathy 17
Athetosis, Dystonia, Chorea OMIM:615473
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms, Hypotonia, Appendicular hypotonia, Axial hypotonia OMIM:620033
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Difficulty walking, Pseudobulbar paralysis, Impaired proprioception, Loss of... OMIM:613908
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Abnormal repetitive mannerisms OMIM:609425
Lichtenstein-Knorr Syndrome
Limb ataxia, Ataxia, Vestibular hypofunction, Dysdiadochokinesis, Gait ataxia, Sensorineural hear... OMIM:616291
Striatonigral Degeneration, Infantile
Spasticity, Choreoathetosis, Dystonia OMIM:271930
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Abnormal repetitive mannerisms, Hypotonia, Spastic tetraparesis, Tremor OMIM:619470
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Low-set ears, Hyperactivity ORPHA:436151
Pendred Syndrome
Goiter, Cochlear malformation, Compensated hypothyroidism, Thyroid carcinoma, Abnormal vestibular... OMIM:274600
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage, Left ventricular hypertrophy OMIM:619040
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Prolonged QTc interval, Ventricular tachycardia, Neurodegeneration, Cerebral atro... OMIM:616878
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Impaired vibration sensation in the lower limbs, Tremor, Spastic paraplegia, Spastic gait... OMIM:600363
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Abnormal repetitive mannerisms, Spastic tetraplegia, Hypertonia OMIM:615282
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Smith-Magenis syndrome
Abnormal repetitive mannerisms DECIPHER:8
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Hypotonia, Chorea, Opisthotonus, Myoclonus, Severe muscular hypotonia, Dystonia OMIM:616672
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria OMIM:617917
Huntington Disease-Like 1
Frequent falls, Jerky head movements, Simultanapraxia, Clumsiness, Abnormal head movements, Gener... ORPHA:157941
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Postural tremor, ... ORPHA:98762
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Dis... OMIM:601382
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Somatic sensory dysfunction, Oromotor apraxia, Speec... ORPHA:454887
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Hyperphenylalaninemia, Bh4-Deficient, C
Hypotonia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal sensory impairment, Hand tremor, Difficulty walking, Steppage gait, Impaired vibration sen... ORPHA:352675
Glutaric Acidemia I
Hypotonia, Generalized hypotonia, Spastic diplegia, Rigidity, Opisthotonus, Choreoathetosis, Dyst... OMIM:231670
Gordon Holmes Syndrome
Ataxia, Chorea OMIM:212840
Distal Deletion 10Q
Anal atresia, High palate, Low-set ears, Facial diplegia, Protruding ear, Cochlear malformation, ... ORPHA:96148
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Gait disturbance, Ataxia, Hearing impairment, Tremor ORPHA:101078
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Spinocerebellar Ataxia Type 28
Spasticity, Parkinsonism, Limb ataxia, Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Gait... ORPHA:101109
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Hypotonia, Opisthotonus OMIM:613661
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
High palate, Gastroesophageal reflux, Absent brainstem auditory responses, EEG abnormality, Dysph... OMIM:617519
Glut1 Deficiency Syndrome 1
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis, Paroxysmal... OMIM:606777
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Tetanus
Spasticity of pharyngeal muscles, Rigidity, Tremor, Opisthotonus, Hypertonia ORPHA:3299
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Ataxia, Clumsiness, Hypotonia, Generalized hypotonia, Gait ataxia, Intention tremor, ... OMIM:608029
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Global brain atrophy, Ataxia, Arrhythmia, Dysphagia, Sensorineural hearing impairme... ORPHA:480864
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hypotonia, Generalized hypotonia, Ataxia OMIM:239500
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Bruxism, Ankle clonus, Tremor, Bradykinesia, Axial hypotonia... OMIM:617435
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Extrapyramidal dyskinesia, Dystonia, Chorea OMIM:277470
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... OMIM:610245
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Abnormality of extrapyramidal motor fu... OMIM:617672
Deafness, X-Linked 5, With Peripheral Neuropathy
Distal sensory impairment, Tinnitus, Unsteady gait, Abnormal middle ear reflexes, Hearing impairm... OMIM:300614
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia OMIM:615924
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Spasticity, Ataxia, Blepharospasm, Clumsiness, Hypotonia, Rigidity, Chorea, Athetosis, Myoclonus,... OMIM:617282
Developmental And Epileptic Encephalopathy 110
Spasticity, Bruxism, Hypotonia, Pain insensitivity, Chorea, Axial hypotonia OMIM:620149
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Ataxia, Tremor, Large fleshy ears, Gait ataxia, Myoclonus, Abnormal repetitive mann... OMIM:619092
Pontocerebellar Hypoplasia, Type 7
Spasticity, Oculomotor apraxia, Ataxia, Hypotonia, Spastic paraplegia, Opisthotonus, Myoclonus, T... OMIM:614969
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Hypotonia, Athetosis, Choreoathetosis, Chorea OMIM:309541
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Hand tremor, Lower limb spasticity ORPHA:401835
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Infantile axial hypotonia, Tremor, Bradykin... ORPHA:521406
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Arrhythmia, Palpitation... ORPHA:263297
Developmental And Epileptic Encephalopathy 103
Spastic tetraplegia, Eyelid myoclonus, Ataxia, Hypotonia, Opisthotonus OMIM:619913
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Abnormal pyramidal sign, Impaired pain sensation, Infantile muscular hypotonia, Limb ... ORPHA:500180
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Posteriorly rotated ears, Low-set ears, Recurrent hand flapping OMIM:618147
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Dystonia, Oculomotor apraxia, Ataxia, Hypotonia, Generalized dystonia, Neon... OMIM:245348
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... OMIM:617145
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Babinski sign, Chorea, Axial hypotonia, Cerebral palsy, Hypertonia, Choreoathetosis, ... OMIM:618451
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Hypotonia, Abnormality of extrapyramidal motor function, Neonatal hypotonia, Intention tr... OMIM:302500
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Opisthotonus, Neonatal hypotonia OMIM:610678
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal movement disorder, Chorea, Resting tremor, Progressive extrapy... ORPHA:401768
Basal Ganglia Calcification, Idiopathic, 6
Parkinsonism, Involuntary movements, Choreoathetosis OMIM:616413
3-Methylglutaconic Aciduria Type 7
Spasticity, Abnormal pyramidal sign, Hypotonia, Abnormality of extrapyramidal motor function, Pro... ORPHA:445038
Pontocerebellar Hypoplasia, Type 11
Anal atresia, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal repetitive ... OMIM:617695
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Schimke X-Linked Mental Retardation Syndrome
Spasticity, Choreoathetosis OMIM:312840
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnorm... ORPHA:320401
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Tinnitus, Paresthesia, Syncope, Palpitations, Low-to-normal ... ORPHA:358
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Spinocerebellar Ataxia Type 40
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria, Broad-based gait, Sp... ORPHA:423275
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms OMIM:300495
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, H... ORPHA:1368
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Hyperkinetic movements, Ataxia, Hypotonia, Tremor, Neonatal hypotonia, Opisthotonus, ... OMIM:616271
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Hemiparesis, Ataxia OMIM:141500
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia ORPHA:210571
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Hyperkinetic movements, Bruxism, Hypotonia, Myoclonus, Stereotypical hand wringing, Choreoathetos... OMIM:618497
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, High palate, Attention deficit hyperactivity disorder, Cleft palate, Recurrent hand... OMIM:620021
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ileus, Short-segment aganglionic megacolon, Hypoplasia of the semicircular canal, Absent brainste... OMIM:609136
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Endocardial fibrosis, Mitral regurgitation, Left atrial e... ORPHA:75566
Developmental And Epileptic Encephalopathy 40
Spasticity, Hypotonia, Myoclonus, Axial hypotonia, Spastic tetraparesis, Choreoathetosis OMIM:617065
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Intention tremor, Atrioventricular block, Macrotia, Bradycardia, Truncal ata... OMIM:614407
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Spastic tetraplegia, Neonatal hypotonia, Opisthotonus, Myoclonus, Hypertonia OMIM:615851
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Hyperactivity, EEG abnormality, Hearing impairmen... OMIM:182290
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Mepan Syndrome
Spasticity, Limb dystonia, Ataxia, Axial dystonia, Hypotonia, Chorea, Hemidystonia, Myoclonus, Cr... ORPHA:508093
Developmental And Epileptic Encephalopathy 31B
Clonus, Hypotonia, Generalized hypotonia, Opisthotonus, Appendicular spasticity, Myoclonus, Invol... OMIM:620352
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Impaired distal vibration sensation, Tremor, Fasciculations,... ORPHA:276435
Coffin-Siris Syndrome 6
Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Tics, Posteriorly rotated e... OMIM:617808
Usher Syndrome Type 1
Subcortical cerebral atrophy, Ataxia, Vestibular hypofunction, Abnormal cochlea morphology, Senso... ORPHA:231169
Atrial Standstill 1
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... OMIM:108770
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Opisthotonus, Frequent falls, Generalized dystonia ORPHA:216866
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Xq28 (MECP2) duplication
Gastroesophageal reflux, Constipation, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Low-set ears, Inability to walk, Bruxism, Tremor, Abnormal repetitive mannerisms OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk, Macrotia OMIM:616269
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... OMIM:611584
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Ataxia, Paraparesis, Hypotonia, Myoclonus, Choreoathetosis, S... ORPHA:726
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Urocanase Deficiency
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria OMIM:276880
Fragile X Syndrome
Hyperactivity, Congenital macroorchidism, Abnormal head movements, Macrotia, Recurrent hand flapp... OMIM:300624
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Intellectual Developmental Disorder, Autosomal Dominant 45
Hypotonia, Chorea, Myoclonus, Abnormal repetitive mannerisms, Cerebral palsy, Recurrent hand flap... OMIM:617600
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Hepatomegaly, Abno... ORPHA:398124
Pandas
Clumsiness, Obsessive-compulsive trait, Tics, Chorea ORPHA:66624
Stiff-Person Syndrome
Frequent falls, Myoclonic spasms, Rigidity, Exaggerated startle response, Opisthotonus OMIM:184850
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Adenylosuccinase Deficiency
Spasticity, Hypotonia, Hemiplegia, Generalized hypotonia, Gait ataxia, Opisthotonus, Myoclonus OMIM:103050
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Huntington Disease-Like 3
Spasticity, Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Chorea... OMIM:604802
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Neurodevelopmental Disorder With Dystonia And Seizures
Spastic tetraplegia, Hypotonia, Athetosis, Chorea, Dystonia OMIM:619922
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... OMIM:303110
Canavan Disease
Hypotonia, Abnormal pyramidal sign, Opisthotonus OMIM:271900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal sensory impairment, Limb ataxia, Oculomotor apraxia, Ataxia, Impaired distal vibration sen... OMIM:208920
Myoclonus, Intractable, Neonatal
Hypotonia, Athetosis, Myoclonus, Chorea OMIM:617235
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hypotonia, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, At... ORPHA:2041
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Action myoclonus, Myoclonus, Choreoathetosis, Truncal ataxia OMIM:616230
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormality of the internal auditory canal, Conductive hearing impairment, Abnor... ORPHA:90646
Multiple Mitochondrial Dysfunctions Syndrome 1
Abnormality of extrapyramidal motor function, Opisthotonus, Myoclonus, Axial hypotonia, Spastic t... OMIM:605711
Aceruloplasminemia
Torticollis, Ataxia, Blepharospasm, Cogwheel rigidity, Abnormality of extrapyramidal motor functi... OMIM:604290
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Intellectual Developmental Disorder, Autosomal Recessive 73
Posteriorly rotated ears, Low-set ears, Recurrent hand flapping, Impulsivity OMIM:619717
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... OMIM:604326
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Oculomotor apraxia, Progressive cerebellar ataxia, Difficulty walking, Spastic dysarthria, Impair... ORPHA:95433
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Postural tremor, Impaired proprioception, Generalized hypotonia, D... ORPHA:98755
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... OMIM:608751
Optic Atrophy 8
Mitral regurgitation, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... OMIM:616648
Chiari Malformation Type Ii
Hypotonia, Opisthotonus, Ataxia, Generalized hypotonia OMIM:207950
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Low-set ears, Hyperactivity, Protruding ear, Bruxism, Attention deficit hyperactivit... OMIM:618342
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Generalized hypotonia, Ataxia OMIM:619099
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile muscular hypotonia, Progressive cerebellar ataxia, Lower limb spasticity, Chorea, Upper... ORPHA:485350
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Low-set ears, Ataxia OMIM:618951
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Atrial septal defect, Le... OMIM:612098
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Cryptorchidism, Hyperactivity, Attention deficit hyperactivity disorder, Repetitive... ORPHA:352490
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Ataxia, Hypotonia, Positive Romberg sign, Babinski sign, Choreoathetosis, Dystonia, D... OMIM:618088
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Generalized hypotonia, Dystonia, Chorea OMIM:613970
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Volvulus, Dysphagia, Interictal epileptiform activity, Abnormal repetitive manneris... OMIM:617802
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Babinski sign, Spasticity OMIM:612069
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, High palate, Abnormal pinna morphology OMIM:300983
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... ORPHA:306692
Congenital Sialidosis Type 2
Hepatosplenomegaly, Abnormal EKG, Low-set ears, Ataxia, Hepatomegaly, Abnormal heart morphology, ... ORPHA:93400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Microtia OMIM:612138
Alg11-Cdg
Infantile muscular hypotonia, Ataxia, Limb hypertonia, Opisthotonus, Axial hypotonia, Hypertonia ORPHA:280071
Huntington Disease
Clonus, Clumsiness, Rigidity, Chorea, Bradykinesia, Compulsive behaviors, Myoclonus, Babinski sig... ORPHA:399
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Axial hypotonia, Choreoathetosis, Dystonia OMIM:612716
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Ataxia, Titubation, Tremor, Compulsive behaviors, Dysmetria OMIM:619405
Lesch-Nyhan Syndrome
Spasticity, Hypotonia, Abnormality of extrapyramidal motor function, Opisthotonus, Choreoathetosi... OMIM:300322
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... OMIM:108950
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Potocki-Lupski Syndrome
High palate, Gastroesophageal reflux, Hyperactivity, EEG abnormality, Hearing impairment, Oral-ph... OMIM:610883
Spinocerebellar Ataxia 47
Spasticity, Ataxia, Generalized hypotonia, Chorea, Dysmetria OMIM:617931
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity, Sensorineural hearing impairment, Bradycardia, Cerebellar atroph... OMIM:609924
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Alcoholism, Syncope, I... ORPHA:90065
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Gait disturbance, Ataxia, Paraparesis, Hearing impairment, Tremor ORPHA:99014
Cerebral Creatine Deficiency Syndrome 2
Infantile muscular hypotonia, Ataxia, Paraparesis, Hypotonia, Progressive extrapyramidal movement... OMIM:612736
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal sensory impairment, Steppage gait, Hearing impairment, Tremor, Babinski sign, ... OMIM:609260
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Spasticity, Choreoathetosis, Dystonia, Axial hypotonia OMIM:614249
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block,... ORPHA:85447
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Low-set ears, Pulmonary arterial hypertension, Attention deficit hyperactivity disorder, Optic ne... OMIM:620029
Sneddon Syndrome
Tremor, Hemiparesis, Chorea ORPHA:820
Christianson Syndrome
Abnormal repetitive mannerisms, Gastroesophageal reflux, Dysphagia, Macrotia ORPHA:85278
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Gait disturbance, Unsteady gait, Impaired distal vibration sensation, ... OMIM:601455
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Developmental And Epileptic Encephalopathy 32
Tremor, Hypotonia, Myoclonus, Ataxia OMIM:616366
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Sensorineura... OMIM:610185
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Ataxia, Rigidity, Bradykinesia, Fasciculations OMIM:183050
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypotonia, Tetraplegia, Opisthotonus, Hypertonia OMIM:619272
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Oculomotor apraxia, Ataxia, Limb hypertonia, Clonus, Generalized dystonia, Intention ... OMIM:618076
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, Right atrial enlargement, He... OMIM:115197
Dystonia 9
Abnormal pyramidal sign, Paresthesia, Spastic paraplegia, Episodic ataxia, Choreoathetosis, Dystonia OMIM:601042
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Chorea, T... ORPHA:282166
Developmental And Epileptic Encephalopathy 64
Hemiparesis, Limb hypertonia, Bruxism, Paroxysmal dystonia, Hypotonia, Chorea, Abnormal repetitiv... OMIM:618004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Mitochondrial Dna Depletion Syndrome 17
Spastic tetraparesis, Chorea, Hemiballismus OMIM:618567
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Hypotonia, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia... OMIM:618877
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Distal sensory impairment, Spastic tetraplegia, Parkinsonism, Ataxia, Fa... OMIM:617225
Gitelman Syndrome
Ventricular tachycardia, Paresthesia, Hypotension, Ataxia, Palpitations, Salt craving, Vertigo, P... OMIM:263800
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... ORPHA:391411
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Frequent falls, Infantile muscular hypotonia, Ataxia, Cogwheel rigidity... ORPHA:225154
Spinocerebellar Ataxia 1
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Progressive cerebellar ataxia, Hyp... OMIM:164400
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Rigidity, Bradykinesia, Pill-... OMIM:615528
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Myoclonus, Abnormal repetitive mannerisms, Babinski sign, Dystonia OMIM:600795
Infantile Krabbe Disease
Spasticity, Ankle clonus, Hyperesthesia, Spastic diplegia, Infantile axial hypotonia, Opisthotonu... ORPHA:206436
Dystonia 7, Torsion
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... OMIM:602124
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Hypotonia, Generalized hypotonia, Chorea, Exaggerated startle response, ... OMIM:272750
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Parkinsonism, Gait disturbance, Falls, Impaired tandem gait, Apraxia, Rigidity, Brady... OMIM:300423
Neuroferritinopathy
Parkinsonism, Leg dystonia, Blepharospasm, Focal dystonia, Chorea, Writer's cramp, Bradykinesia, ... ORPHA:157846
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... OMIM:125250</