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, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Axial hypotonia OMIM:616921
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Vertigo, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Axial hypotonia ORPHA:494526
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Chorea, Benign Familial
Chorea OMIM:215450
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Generalized hypotonia, Hypotonia OMIM:213000
Glutathionuria
Tremor OMIM:231950
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea OMIM:616922
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Acetyl-Coa Acetyltransferase-2 Deficiency
Generalized hypotonia, Chorea, Hypotonia OMIM:614055
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Neurodegeneration With Brain Iron Accumulation
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Dystonia ORPHA:385
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia ORPHA:98809
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Generalized hypotonia, Truncal ataxia, Chorea, Athetosis, Choreo... OMIM:130950
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea ORPHA:494541
Acid Phosphatase Deficiency
Generalized hypotonia, Opisthotonus, Hypotonia OMIM:200950
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Chorea, Benign Hereditary
Chorea OMIM:118700
Dystonia With Ringbinden
Dystonia, Chorea OMIM:224550
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Involuntary movements, Spasticity, Dystonia OMIM:617282
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... ORPHA:13
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Clonus, Poor moto... OMIM:500003
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Brugada Syndrome 4
Atrial fibrillation, Shortened QT interval, Syncope OMIM:611876
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Cataract 11, Multiple Types
Hypertonia, Chorea OMIM:610623
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Opisthotonus, Parkinsonism, Apraxia, Choreoathetosis, Spasticity, Spastic tetraparesis, Dystonia,... OMIM:619653
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor, Neonatal hypotonia OMIM:300703
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Generalized hypotonia OMIM:606053
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Stereotypical hand wringing, Chorea, Axial hypotonia OMIM:618760
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Generalized hypotonia, Tremor OMIM:264070
Developmental And Epileptic Encephalopathy 37
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Spastici... OMIM:616981
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia, Axial hypotonia ORPHA:324588
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Babinski sign, Chorea, Spasticity, Abnormality of extrapyramidal motor function OMIM:258501
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Dystonia, Chorea ORPHA:98934
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia OMIM:619647
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia, Dystonia, Axial hypot... OMIM:619150
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity ORPHA:401849
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Choreoathetosis, Involuntary movements, Paroxysmal dyskinesia, Dystonia ORPHA:31709
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia OMIM:618317
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... ORPHA:251282
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Neurodevelopmental Disorder With Involuntary Movements
Generalized hypotonia, Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spastici... OMIM:617493
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia OMIM:159900
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Hypot... OMIM:606703
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis, Axial hypotonia OMIM:617270
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Amyotrophic Lateral Sclerosis 2, Juvenile
Hypertonia, Ataxia, Upper limb spasticity, Opisthotonus, Retrocollis, Spastic diplegia, Babinski ... OMIM:205100
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait dist... ORPHA:363710
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Ataxia, Cochlear degeneration OMIM:271250
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Severe muscular hypotonia, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spastici... OMIM:614254
Cerebellar Ataxia, Cayman Type
Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia OMIM:601238
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Parkinsonism, Chorea, Motor tics OMIM:615483
Choreoathetosis, Familial Inverted
Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Cerebellar Ataxia, Cayman Type
Intention tremor, Generalized hypotonia, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait a... ORPHA:94122
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... ORPHA:2589
Developmental And Epileptic Encephalopathy 27
Myoclonus, Chorea, Spasticity, Hypotonia, Dystonia, Axial hypotonia OMIM:616139
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
Huntington Disease-Like 1
Incoordination, Rigidity, Dysmetria, Chorea OMIM:603218
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Athetosis OMIM:615473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Park... OMIM:617013
Smith-Magenis syndrome
Motor stereotypy, Hypotonia DECIPHER:8
Pontocerebellar Hypoplasia, Type 2D
Spastic tetraplegia, Chorea, Clonus OMIM:613811
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Bradykinesia, Chorea OMIM:618683
Snijders Blok-Fisher Syndrome
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Facial hypotonia OMIM:618604
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Generalized hypotonia, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Spinocerebellar Ataxia Type 2
Progressive cerebellar ataxia, Generalized hypotonia, Parkinsonism, Fasciculations, Chorea, Kinet... ORPHA:98756
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Opisthotonus, Axial hypotonia OMIM:616896
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyro... ORPHA:705
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Infantile Dystonia-Parkinsonism
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... ORPHA:238455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Huntington Disease
Rigidity, Gait ataxia, Bradykinesia, Chorea OMIM:143100
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Myoclonus, Familial, 1
Frequent falls, Ataxia, Myoclonus OMIM:614937
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Appendicular hypotonia, Axial hypotonia, Hypotonia OMIM:620033
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Hypertonia, Ataxia, Axial dystonia, Opisthotonus, Retrocollis, Spastic di... ORPHA:300605
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Generalized hypotonia, Chorea ORPHA:79137
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Generalized hypotonia OMIM:617862
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypotonia OMIM:619561
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Dysmetria, Chorea, Gait ataxia, Axial hypotonia OMIM:618501
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea OMIM:607674
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval, Ventricular fibrillation, Profou... ORPHA:90647
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Sensorineural hearing impairment, Clumsiness, Dysmetria, Poor coordination, Ank... OMIM:270500
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Heart block, Syncope, Vertigo, Congestive heart failure ORPHA:871
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:104290
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... ORPHA:99852
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Writ... ORPHA:98759
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Generalized hypotonia, Rigidity, Tremor, S... ORPHA:98763
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Neonatal hypotonia OMIM:302500
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Pontocerebellar Hypoplasia, Type 2B
Opisthotonus, Extrapyramidal dyskinesia, Limb hypertonia, Babinski sign, Chorea, Spasticity, Clon... OMIM:612389
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Spinocerebellar Ataxia 17
Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Positive Romberg sign,... OMIM:607136
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Cochlear degeneration, Diabetes mellitus, Slowed slurred speech, Progressive sensorineura... OMIM:172500
Atrial Standstill
Abnormal heart morphology, Hemiplegia, Ventricular escape rhythm, Abnormal P wave, Atrial standst... ORPHA:1344
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Opisthotonus OMIM:613661
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Unsteady gait OMIM:614063
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment ORPHA:101075
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... ORPHA:157946
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Oral motor hypo... ORPHA:248111
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Developmental And Epileptic Encephalopathy 101
Myoclonus, Hypotonia, Opisthotonus, Axial hypotonia OMIM:619814
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:614820
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Opisthotonus OMIM:250800
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Glutaric Acidemia I
Opisthotonus, Spastic diplegia, Generalized hypotonia, Rigidity, Choreoathetosis, Hypotonia, Dyst... OMIM:231670
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Generalized hypotonia OMIM:617830
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Progressive spastic paraplegia, Limb tremor, Spastic gait, Lower limb spasticity ORPHA:401820
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Developmental And Epileptic Encephalopathy 78
Neonatal hypotonia, Cerebral palsy, Generalized hypotonia, Chorea, Spasticity, Hypotonia OMIM:618557
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticity, Dystonia, Abnormalit... OMIM:617672
Sydenham Chorea
Hemiballismus, Generalized hypotonia, Chorea ORPHA:306731
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity, Dystonia OMIM:618917
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... OMIM:610245
Rett Syndrome
Cerebral cortical atrophy, Abnormal T-wave, EEG abnormality, Gait apraxia, Cachexia, Truncal atax... OMIM:312750
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Developmental And Epileptic Encephalopathy 84
Opisthotonus, Babinski sign, Generalized hypotonia, Chorea, Spasticity, Dystonia, Axial hypotonia OMIM:618792
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... OMIM:608029
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment ORPHA:101078
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hypertonia, Opisthotonus, Cerebral palsy, Babinski sign, Myoclonus, Spasticity, Spastic tetrapleg... OMIM:619847
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... ORPHA:401768
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Generalized hypotonia, Tremor, Hypotonia OMIM:612016
Spinocerebellar Ataxia 35
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Hypotonia, Generalized hypotonia, Chorea, Athetosis OMIM:309541
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Myoclonus, Intractable, Neonatal
Myoclonus, Generalized hypotonia, Chorea, Athetosis OMIM:617235
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Hand tremor, Impaired vibration sensation in the lower limbs, D... ORPHA:352675
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Branchiootorenal Syndrome 1
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Euthyroid goiter, C... OMIM:113650
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Muscular ventricular septal defect, Atrophy/Degeneration affecting the bra... ORPHA:66634
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hypotonia, Dystonia OMIM:261630
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Hypotonia OMIM:618709
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Frequent falls, Gait ataxia, Oculomotor apraxia, Lower limb spasticit... OMIM:604391
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Generalized hypotonia, Spasticity OMIM:617393
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Nonprogressive cerebellar ataxia, Optic atrophy, Noncompaction cardiomyopat... OMIM:610198
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Generalized hypotonia, Chorea, Involuntary movements, Dystonia OMIM:617804
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor ORPHA:210571
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Generalized hypotonia, Chorea... ORPHA:251347
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... ORPHA:454887
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401830
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Generalized hypotonia, Chorea, Spasticity, Hypotonia, Dystonia ORPHA:88616
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Arrhythmia, Sick sinus syndrome, Patent ... ORPHA:542306
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment, Hemiplegia/hemiparesis, Ataxia ORPHA:480
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis, Hypotonia, ... OMIM:619317
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
3-Methylglutaconic Aciduria Type 3
Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia, Axial hypotonia OMIM:619651
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Dystonia, Extrapyramidal dyskinesia, Chorea OMIM:277470
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Hypotonia... OMIM:213200
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Tremor, Adult onset sensorineural hearing i... ORPHA:1368
Distal Monosomy 10Q
High palate, Anal atresia, Protruding ear, Cochlear malformation, Congenital sensorineural hearin... ORPHA:96148
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Broad-based gait, Failure to thrive, Aganglionic megacolon, Underfo... OMIM:300352
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Infantile axial ... ORPHA:521406
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Ataxia, Rigidity, Myoclonus OMIM:618876
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Babinski sign, Arrhythmia, Optic atrophy, I... ORPHA:480864
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity, Hypotonia, Dystonia OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor OMIM:619988
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Mitochondrial Complex I Deficiency, Nuclear Type 12
Choreoathetosis, Abnormality of extrapyramidal motor function, Axial hypotonia OMIM:301020
Geniospasm 1
Chin myoclonus OMIM:190100
D-Glyceric Aciduria
Neonatal hypotonia, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia, H... OMIM:220120
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Combined Oxidative Phosphorylation Deficiency 27
Severe muscular hypotonia, Opisthotonus, Myoclonus, Chorea, Tetraparesis, Hypotonia, Dystonia OMIM:616672
Tetanus
Hypertonia, Opisthotonus, Rigidity, Tremor, Spasticity of pharyngeal muscles ORPHA:3299
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Tinnitus, Prolonged QT interval, Hypertens... ORPHA:251274
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Lower limb spasticity OMIM:616948
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Intellectual Developmental Disorder, X-Linked 104
High palate, Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Spasticity OMIM:300983
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... OMIM:617519
Lesch-Nyhan Syndrome
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Hypotonia, Dystonia, Abnormalit... OMIM:300322
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Generalized hyp... OMIM:619580
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Sensorineural hearing impairment, Torsade de pointes, Ataxia, Cerebral atrophy, Poor coordination... OMIM:616878
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Ileus, Absent brainstem auditory responses, Hypoplasia of th... OMIM:609136
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Generalized hypotonia, Hypotonia OMIM:239500
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity OMIM:210000
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... ORPHA:284332
Aceruloplasminemia
Torticollis, Ataxia, Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal moto... OMIM:604290
Huntington Disease-Like 3
Ataxia, Abnormal pyramidal sign, Chorea, Spasticity, Dystonia, Abnormality of extrapyramidal moto... OMIM:604802
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonus, Hyperkinetic movements, Choreoathetosis, Hypotonia, Dystonia OMIM:618497
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Chorea, Choreoathetosis, Spasticity, Dystonia OMIM:618451
Developmental And Epileptic Encephalopathy 103
Ataxia, Opisthotonus, Spastic tetraplegia, Hypotonia, Eyelid myoclonus OMIM:619913
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Hypotonia ORPHA:397933
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Neonatal hypotonia, Hyperkinetic movements, Choreoathetosis, Involuntar... OMIM:618218
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... ORPHA:157941
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Infantile muscular hypotonia, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, Spas... ORPHA:500180
Apert Syndrome
Ectopic anus, Sensorineural hearing impairment, Conductive hearing impairment, Narrow palate, Ova... ORPHA:87
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Leukodystrophy, Hypomyelinating, 4
Babinski sign, Generalized hypotonia, Progressive spasticity, Choreoathetosis, Hypotonia OMIM:612233
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Sensorineural hearing impairment, Progressive cerebellar ataxia, Impaired vibration sensation in ... ORPHA:352641
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Spasticity, Chorea OMIM:613970
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... ORPHA:263297
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal pyramidal sign, Somatic sensory dysfunction, Abnormal EKG... ORPHA:1177
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia, Axial hypotonia OMIM:612716
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Hypotonia OMIM:619470
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Athetosis, Spastic tetraplegia, Hypotonia, Dystonia OMIM:619922
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Ataxia, Tremor OMIM:618951
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Decreased body weight, Hyperactivity OMIM:608747
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Ataxia, Opisthotonus, Myoclonus, Spastic paraplegia, Choreoathetosis, Spasticity, Hyp... OMIM:614969
3-Methylglutaconic Aciduria Type 7
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... ORPHA:445038
Pseudohypoparathyroidism Type 2
Paresthesia, Laryngeal dystonia, Prolonged QT interval, Myoclonic spasms ORPHA:94090
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment ORPHA:99014
Dystonia 9
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Spasticity, Opisthotonus, Generalized dystonia ORPHA:216866
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Choreoathetosis OMIM:616230
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia, Axia... OMIM:261640
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis OMIM:257970
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Gabriele-De Vries Syndrome
Abnormal pinna morphology, Tremor, Waddling gait, Posteriorly rotated ears, Dystonia OMIM:617557
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... ORPHA:95433
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... ORPHA:276435
Canavan Disease
Abnormal pyramidal sign, Opisthotonus, Hypotonia OMIM:271900
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Cerebral atrophy, Ankle clonus, Babinski sign, Spasticity, Spas... OMIM:616657
Developmental And Epileptic Encephalopathy 40
Myoclonus, Choreoathetosis, Spasticity, Hypotonia, Spastic tetraparesis, Axial hypotonia OMIM:617065
Pontocerebellar Hypoplasia, Type 2E
Hypertonia, Neonatal hypotonia, Opisthotonus, Myoclonus, Spasticity, Spastic tetraplegia OMIM:615851
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Generalized hypotonia, Chorea,... OMIM:272750
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Choreoathetosis, Spasticity, Axial hypotonia OMIM:614249
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Neonatal hypotonia, Opisthotonus, Myoclonus, Hyperkinetic movements, Tremor, Choreoatheto... OMIM:616271
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Spinocerebellar Ataxia 47
Ataxia, Dysmetria, Generalized hypotonia, Chorea, Spasticity OMIM:617931
Intellectual Developmental Disorder, Autosomal Recessive 48
Kinetic tremor, Inability to walk, Waddling gait, Macrotia OMIM:616269
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized hypotonia, Rigidity, Tremor, Dystonia OMIM:617836
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremor, Impaired distal v... OMIM:208920
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
High palate, Recurrent hand flapping, Cleft palate, Attention deficit hyperactivity disorder, Low... OMIM:620021
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia, Axial hypotonia OMIM:612438
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Neonatal hypotonia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal... OMIM:245348
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Intention tremor, Truncal ataxia, Prominent antihelix, Macrotia, Dystonia, Atrioventricular block... OMIM:614407
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Sneddon Syndrome
Tremor, Hemiparesis, Chorea ORPHA:820
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Infantile muscular hypotonia, Myoclonus, Rigidity, Progressive e... OMIM:612736
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomi... ORPHA:85451
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Rigidity, Myoclonic spasms, Frequent falls OMIM:184850
Chiari Malformation Type Ii
Ataxia, Generalized hypotonia, Opisthotonus, Hypotonia OMIM:207950
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Motor stereotypy, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Mitochondrial Dna Depletion Syndrome 17
Spastic tetraparesis, Hemiballismus, Chorea OMIM:618567
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Spinocerebellar Ataxia Type 1
Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokines... ORPHA:98755
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Hyperactivity, Tremor, Spasticity, Low-set ears OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Congenital Sialidosis Type 2
Low-set ears, Ataxia, Hepatomegaly, Dysmetria, Hepatosplenomegaly, Myoclonus, Optic atrophy, Hear... ORPHA:93400
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Generalized hypotonia, Athetosis, Tremor OMIM:617106
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Parkinson Disease 19A, Juvenile-Onset
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Rigidity, Parkinsoni... OMIM:615528
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Postural tremor, Lower limb spas... ORPHA:100988
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... OMIM:300894
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Hypertonia, Neonatal hypotonia, Chorea, Spasticity, Spastic tetraplegia OMIM:617864
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Xq28 (MECP2) duplication
Motor stereotypy, Constipation, Gastroesophageal reflux, Progressive spasticity, Gait ataxia, Mac... DECIPHER:45
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... ORPHA:57777
Adenylosuccinase Deficiency
Opisthotonus, Myoclonus, Generalized hypotonia, Gait ataxia, Spasticity, Hypotonia OMIM:103050
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Generalized hypotonia, Hypotonia, Fasciculations OMIM:611721
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Hearing impairment, Ste... OMIM:609260
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Infantile muscular hypotonia, Spasticity ORPHA:500545
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Leukodystrophy, Hypomyelinating, 11