Gene Summary

Name:
potassium voltage-gated channel, shaker-related subfamily, member 1
Synonyms:
Kv1.1,  Mk-1,  MBK1,  Shak,  mceph,  mouse brain potassium channel protein-1

IMPC Data Collections

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.

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
ileum 14.6% (20 of 137)
jejunum 8.82% (12 of 136)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 315)
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

130 Images

Human diseases caused by Kcna1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kcna1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kcna1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Spastic Ataxia With Congenital Miosis
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Seizure ORPHA:1182
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... OMIM:601068
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Myoclonic seizure, Bradycardia OMIM:619521
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Seizure, Bradycardia OMIM:611938
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enha... OMIM:615127
Angelman syndrome (Type 2)
Truncal ataxia, Seizure DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, Seizure DECIPHER:4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:619964
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia OMIM:168885
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Seizure, Bradycardia OMIM:617173
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... OMIM:614561
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Ataxia, Spasticity, Seizure OMIM:604004
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Myasthenic Syndrome, Congenital, 18
Ataxia, Fatigable weakness, Difficulty walking OMIM:616330
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Megalencephaly With Dysmyelination
Ataxia, Spasticity, Seizure OMIM:249240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Seizure ORPHA:1398
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in... OMIM:614417
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Seizure OMIM:619061
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Poor fine motor coordination, Bradycardia OMIM:617182
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, Spasticity, Seizure OMIM:619228
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Myasthenic Syndrome, Congenital, 15
Frequent falls, Difficulty walking, Fatigable weakness OMIM:616227
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia OMIM:617018
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure OMIM:208700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Dystonia 23
Torticollis, Myoclonus, Arrhythmia, Head tremor OMIM:614860
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia, Seizure ORPHA:85338
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia ORPHA:94122
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... OMIM:615369
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Maple Syrup Urine Disease
Ataxia, Hemiplegia/hemiparesis, Seizure ORPHA:511
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Third degree atrioventricular block, Seizure, Bradycardia OMIM:619814
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Cardiomyopathy OMIM:619647
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Abno... OMIM:162350
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Seizure, Hypertrophic cardiomyopathy, Congestive ... OMIM:617222
Atrial Standstill
Hemiplegia, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I... ORPHA:1344
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Seizure OMIM:617643
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypertonia, Multifocal seizures, Generalized myoclonic seizure, Babinski sign, Rigidity, Myocloni... OMIM:614498
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Seizure, Cardiac arrest,... OMIM:212138
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, EEG with focal epileptiform discharges, Focal autonomic seizure, Bilateral t... ORPHA:101046
Developmental And Epileptic Encephalopathy 38
Status epilepticus, Hypertonia, Ataxia, Dystonia OMIM:617020
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Somatic sensory dysfunction... ORPHA:363710
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... OMIM:616139
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... OMIM:614018
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, B... OMIM:245570
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Seizure, ... OMIM:619742
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, EEG with spike-w... OMIM:618587
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... ORPHA:98811
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, EEG with centrotemporal foca... OMIM:117100
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure OMIM:141500
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia OMIM:125370
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor, Seizure OMIM:618075
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Clonic seizure, Generalized myoclonic seizure, EEG with burst suppression, Bi... OMIM:266100
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Status epilepticus, Ataxia, Episodic quadriplegia, Choreoathetosis, Seizure, Dystonia... OMIM:614820
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, Bilateral tonic-clonic seizure with focal onset, EE... ORPHA:163721
Rare Non-Syndromic Intellectual Disability
Difficulty walking, Bilateral tonic-clonic seizure, Hypoplastic hippocampus, Spasticity, Seizure,... ORPHA:101685
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Sudden cardiac death, Palpitations, Absent P wave, Atrioventricular block, Fir... OMIM:310300
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... ORPHA:98820
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Bilateral tonic-clonic seizur... ORPHA:363549
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Seizure ORPHA:1766
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, EEG abnormality, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Spastic tetraplegia OMIM:613721
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Gait ataxia OMIM:601238
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Loss of ambulation, Decreased miniature endplate potentials OMIM:616321
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Seizure ORPHA:404493
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awareness seizure OMIM:610003
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:139426
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Seizure, Bradycardia OMIM:616276
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... OMIM:614558
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... OMIM:608105
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral tonic-clon... OMIM:254800
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dystonia OMIM:618924
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu... OMIM:619157
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Seizure OMIM:618876
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Cogwheel rigidity,... OMIM:616981
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... OMIM:204300
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski ... ORPHA:251282
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... OMIM:616409
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure, Cardiomyopathy OMIM:611556
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure OMIM:616341
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Cardiomyopathy OMIM:619651
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure ORPHA:86814
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Autosomal Spastic Paraplegia Type 72
Spastic gait, Impaired vibration sensation at ankles, Rigidity, Postural tremor ORPHA:401849
Lissencephaly 10
Torticollis, Atypical absence seizure, EEG abnormality, Atonic seizure, Focal impaired awareness ... OMIM:618873
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... OMIM:619317
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c... OMIM:607631
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... OMIM:600363
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Seizure OMIM:617862
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Gait ataxia, Limb ataxia, Seizure ORPHA:404499
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia OMIM:615924
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Arrhythmia, Sick sinus syndrome, Seizure... ORPHA:542306
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation, Seizure ORPHA:90647
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... OMIM:609446
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Somatic sensory dysfunction, Tre... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Seizure OMIM:614322
Epilepsy, Progressive Myoclonic, 8
EEG with photoparoxysmal response, Myoclonus, Action myoclonus, Bilateral tonic-clonic seizure, C... OMIM:616230
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonic... OMIM:617836
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... OMIM:617665
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... ORPHA:53583
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Limb ataxia OMIM:615957
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Blepharospasm, Jerk-locked premyoclonus spikes, EEG with irreg... OMIM:607876
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Seizure, Dystonia, Focal sensory seizure ORPHA:98809
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... ORPHA:2590
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Infantile spasms, Myoclonic seizure, Agenesis of corpus callosum, Part... OMIM:619302
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Seizure OMIM:616540
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Glutathionuria
Tremor OMIM:231950
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure OMIM:612016
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Focal motor status epilepticus, Poor coordination, Chorea, Falls, Seizu... OMIM:619150
Spinocerebellar Ataxia, Autosomal Recessive 15
Ataxia, Gait ataxia, Unsteady gait, Seizure OMIM:615705
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Limb ataxia OMIM:117210
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... ORPHA:36387
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Seizure, Bradycardia OMIM:614654
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Atypical absence seizure, Focal motor seizure, Bilateral tonic-clo... ORPHA:98818
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure OMIM:545000
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Diaminopentanuria
Ataxia, Spasticity, Seizure OMIM:222350
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus, Seizure OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Seizure, Bradycardia OMIM:617248
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, E... OMIM:619605
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Normal interic... OMIM:601764
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Myoclonus-Dystonia Syndrome
Torticollis, Myoclonus, Limb myoclonus, Spinal myoclonus ORPHA:36899
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... ORPHA:284332
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure, Dystonia ORPHA:139406
Myoclonic Epilepsy Of Infancy
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... ORPHA:86909
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilatera... ORPHA:101071
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ataxia, Hemiplegia/hemiparesis ORPHA:480
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Seizure, Hypertrophic cardiomyopathy OMIM:618815
Foxg1 Syndrome
Motor stereotypy, Status epilepticus, Inability to walk, Poor eye contact, Myoclonus, Hyperkineti... ORPHA:561854
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... OMIM:619028
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, ... ORPHA:85179
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Dilated cardiomyopathy, Choreoathetosis, Invo... OMIM:606703
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Myoclonus, Parkinsonism, Bilateral tonic-clonic seizure, ... OMIM:204200
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation,... OMIM:620066
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Infantile spasms, Spasticity OMIM:278780
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... ORPHA:100988
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hemiparesis, Bila... OMIM:540000
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... OMIM:613855
Infantile Convulsions And Choreoathetosis
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Athetosis, Complex febrile... ORPHA:31709
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis, Multifocal epilep... OMIM:609056
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Infantile spasms, Myoclonic seizure, Agenesis of corpus callosum, Bilateral tonic-clo... OMIM:619301
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Limb ataxia, Generalized myoclonic seizure, A... OMIM:617350
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:607745
Brain Small Vessel Disease 2
Hemiplegia, Intracranial hemorrhage, Bilateral tonic-clonic seizure, Spastic tetraplegia, Focal-o... OMIM:614483
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Febrile seizure (within the age range of 3 months to 6 years), Progressive cerebellar ataxia OMIM:618412
Leber Hereditary Optic Neuropathy
Ataxia, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Postural tremor ORPHA:104
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Continuous spike and ... OMIM:619913
Epilepsy, Early-Onset, Vitamin B6-Dependent
Hypertonia, Myoclonus, Seizure, Clonus OMIM:617290
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Infantile spasms, Generalized-onset seizure, Spastic... ORPHA:208447
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations, Generalized clonic seizure OMIM:611721
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Ataxia, Inability to walk, Infantile spasms, Generalized myoclonic-atonic sei... OMIM:619701
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic sei... OMIM:613970
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Ataxia, Slurred speech, Seizure ORPHA:972
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal impaired awareness seizure, Intracranial hemorrhage, Cerebral palsy, Athetosis, Spastic par... ORPHA:369929
Early Myoclonic Encephalopathy
Focal motor seizure, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Focal seizure wi... ORPHA:1935
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity OMIM:608029
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Seizure, Dystonia OMIM:617829
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait OMIM:618387
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Fatigable weakness, Frequent... ORPHA:353327
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Bil... ORPHA:726
Benign Familial Neonatal Epilepsy
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simple febri... ORPHA:1949
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Abnormal... ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus, Seizure OMIM:204500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait ataxia, Bilateral t... OMIM:617810
New-Onset Refractory Status Epilepticus
Status epilepticus, EEG with spike-wave complexes, Focal impaired awareness seizure, Focal aware ... ORPHA:363558
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure OMIM:606777
Geniospasm 1
Chin myoclonus OMIM:190100
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Clonus, Poor motor coordination, In... OMIM:500003
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi...