Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Kcna1 MGI:96654

Gene Summary

Name:

potassium voltage-gated channel, shaker-related subfamily, member 1

Synonyms:

Kv1.1, Mk-1, MBK1, mceph, Shak, mouse brain potassium channel protein-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
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

View images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

View 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.

Human diseases associated with Kcna1 (5 diseases)
Human diseases predicted to be associated with Kcna1 (1646 diseases)

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

Disease	Matching phenotypes	Source
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Paroxysmal Kinesigenic Dyskinesia	Writer's cramp, Involuntary movements, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure	ORPHA:98809
Hereditary Continuous Muscle Fiber Activity	Seizure, Slurred speech, Ataxia, Spastic gait	ORPHA:972
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, EEG with bu...	ORPHA:1934
Episodic Ataxia Type 1	Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia	ORPHA:37612

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

Disease	Matching phenotypes	Source
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis	ORPHA:1182
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener...	OMIM:601068
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia, Myoclonic seizure	OMIM:619521
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Ventricular tachycardia, Seizure, Syncope, Bradycardia	OMIM:611938
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike...	OMIM:615127
Angelman syndrome (Type 2)	Seizure, Truncal ataxia	DECIPHER:54
Angelman syndrome (Type 1)	Seizure, Truncal ataxia	DECIPHER:4
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia	OMIM:213000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg...	OMIM:619964
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal...	OMIM:614561
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1	Seizure, Spasticity, Ataxia	OMIM:604004
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG...	OMIM:613608
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Seizure, Spasticity, Ataxia	OMIM:619228
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Impaired temperature sensation	OMIM:212890
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Ataxia, Difficulty walking	OMIM:616330
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Megalencephaly With Dysmyelination	Seizure, Spasticity, Ataxia	OMIM:249240
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Seizure, Ataxia, Spastic tetraparesis	OMIM:619061
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Isolated Cerebellar Agenesis	Seizure, Hypertonia, Ataxia	ORPHA:1398
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Epilepsy, Familial Temporal Lobe, 5	Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal...	OMIM:614417
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm...	OMIM:615625
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Seizure, Sick sinus syndrome, Bradycardia	OMIM:617173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Continuous Spikes And Waves During Sleep	Dystonia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizu...	ORPHA:725
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia	OMIM:617018
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Seizure, Ataxia, Apraxia	ORPHA:85338
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Dystonia 23	Torticollis, Arrhythmia, Myoclonus, Head tremor	OMIM:614860
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia...	OMIM:615006
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia...	OMIM:617389
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S...	OMIM:619970
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr...	ORPHA:101108
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Maple Syrup Urine Disease	Seizure, Ataxia, Hemiplegia/hemiparesis	ORPHA:511
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardia	OMIM:617182
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks, Bradycardia	ORPHA:2898
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ...	OMIM:615369
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Cardiomyopathy, Frequent falls, Myoclonus	OMIM:619647
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Myasthenic Syndrome, Congenital, 15	Fatigable weakness, Frequent falls, Difficulty walking	OMIM:616227
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Seizure, Third degree atrioventricular block, Bradycardia, Myoclonus	OMIM:619814
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor	ORPHA:94122
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure	OMIM:611092
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei...	ORPHA:98811
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Developmental And Epileptic Encephalopathy 60	Epileptic spasm, Tonic seizure, Inability to walk, Spastic tetraplegia, Myoclonic seizure, Seizur...	OMIM:617929
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Seizure, Bradycardia, Hypertrophic c...	OMIM:617222
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ...	OMIM:162350
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Cortical Malformations, Occipital	EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia	OMIM:613722
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski...	ORPHA:101010
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia	OMIM:125370
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban...	ORPHA:363710
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Babinski sign, Seizu...	OMIM:619742
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Centralopathic Epilepsy	Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi...	OMIM:117100
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Seizure, Syncope, Torsade de pointes, Abnormal T-wave, P...	ORPHA:101016
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth...	OMIM:616139
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Epilepsy, Myoclonic Juvenile	Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ...	OMIM:254770
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni...	OMIM:614820
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Unsteady gait, Impaired proprioception, Abnormal pyramidal sign, Lim...	ORPHA:95434
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G...	OMIM:266100
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse...	OMIM:617391
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Aminoacylase 1 Deficiency	Seizure, Bilateral tonic-clonic seizure, Bradycardia	OMIM:609924
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,...	ORPHA:163721
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa...	ORPHA:98820
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents	OMIM:616321
Andersen-Tawil Syndrome	Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi...	ORPHA:37553
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu...	ORPHA:363549
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617171
Paroxysmal Kinesigenic Dyskinesia	Writer's cramp, Involuntary movements, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure	ORPHA:98809
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Seizure, Ataxia	ORPHA:404493
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure	OMIM:612621
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the...	ORPHA:251282
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w...	ORPHA:2382
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo...	OMIM:607317
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor	OMIM:618876
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Cardiomyopathy, Myoclonus	OMIM:619651
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga...	OMIM:618090
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) se...	OMIM:619157
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic seizure, EE...	OMIM:617106
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus	ORPHA:36899
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Familial Dyskinesia And Facial Myokymia	Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Limb hypertonia	ORPHA:324588
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Autosomal Spastic Paraplegia Type 72	Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles	ORPHA:401849
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg...	OMIM:617904
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)...	OMIM:617665
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:254800
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Mitochondrial Complex I Deficiency, Nuclear Type 13	Bilateral tonic-clonic seizure, Cardiac arrest, Focal motor seizure, Spasticity, Bradycardia, Hyp...	OMIM:618235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardi...	ORPHA:542306
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon...	OMIM:616409
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Chromosome 15Q11-Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form peer relationships, Seizu...	OMIM:608636
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti...	OMIM:619000
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dystonia	OMIM:618924
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo...	OMIM:600363
Infantile Convulsions And Choreoathetosis	Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ...	ORPHA:31709
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency	Seizure, Limb ataxia, Gait ataxia	ORPHA:404499
Glycogen Storage Disease 0, Muscle	Cardiomyopathy, Bilateral tonic-clonic seizure	OMIM:611556
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Jervell And Lange-Nielsen Syndrome	Seizure, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-...	ORPHA:36387
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo...	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Epileptic spasm, Seizure	OMIM:619561
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs...	OMIM:617113
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ...	OMIM:607745
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s...	OMIM:619605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ...	OMIM:606703
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin...	OMIM:614498
Epilepsy, Childhood Absence, Susceptibility To, 1	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:600131
Febrile Seizures, Familial, 8	EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence...	OMIM:607681
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia	OMIM:616341
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Seizure, Ataxia, Myoclonus	OMIM:600143
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp...	ORPHA:139431
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ...	ORPHA:101071
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm...	ORPHA:284324
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Spinocerebellar Ataxia, Autosomal Recessive 15	Seizure, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Juvenile Absence Epilepsy	EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen...	ORPHA:1941
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk, Focal-onset seizure...	ORPHA:330050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t...	OMIM:300423
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Choreoathetosis, Myoclonus, Ac...	OMIM:616230
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Diaminopentanuria	Seizure, Spasticity, Ataxia	OMIM:222350
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Hypoplastic hippocampus, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:619317
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Coenzyme Q10 Deficiency, Primary, 7	Seizure, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia	OMIM:104290
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Landau-Kleffner Syndrome	Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge...	ORPHA:98818
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ...	OMIM:301020
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem...	ORPHA:454887
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure...	OMIM:615859
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Spinocerebellar Ataxia, Autosomal Recessive 12	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a...	OMIM:614322
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen...	ORPHA:86909
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv...	ORPHA:284332
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener...	OMIM:607876
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic corpus callosum, Unsteady g...	OMIM:620317
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc...	OMIM:181350
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, H...	ORPHA:208447
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block	ORPHA:85447
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ...	ORPHA:2590
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Dystonia 11, Myoclonic	Tremor, Torticollis, Myoclonus	OMIM:159900
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Concentric hypertrophic cardiomyopathy, Seizure, Ab...	OMIM:204200
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz...	ORPHA:100988
Kearns-Sayre Syndrome	Hemiplegia/hemiparesis, Ataxia, Third degree atrioventricular block	ORPHA:480
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Seizure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Combined Saposin Deficiency	Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations	OMIM:611721
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile...	OMIM:609056
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Generalized-onset seizure, Bilateral tonic-clonic ...	OMIM:620066
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Seizure, Bradycardia, Pul...	OMIM:601005
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Spinocerebellar Ataxia 48	Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Focal impaired awareness seiz...	ORPHA:382
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age...	OMIM:619302
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Infantile spasms	OMIM:278780
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li...	OMIM:617350
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus, Dystonia	ORPHA:139406
Leber Hereditary Optic Neuropathy	Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia	ORPHA:104
Hereditary Continuous Muscle Fiber Activity	Seizure, Slurred speech, Ataxia, Spastic gait	ORPHA:972
Cln3 Disease	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, My...	ORPHA:228346
Spinocerebellar Ataxia Type 35	Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P...	ORPHA:276193
Lichtenstein-Knorr Syndrome	Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor	OMIM:616291
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Hypoplastic hippocampus, Pneumonia, Partial agenesis of the corpus callosum, Seizure, Conductive ...	ORPHA:85179
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I...	OMIM:619701
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
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
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra...	ORPHA:71517
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur...	OMIM:617810
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf...	OMIM:615528
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Bilateral tonic-clonic seizure	OMIM:619639
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure...	OMIM:611726
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordination, Seizure, ...	OMIM:619150
Benign Familial Neonatal Epilepsy	Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure...	ORPHA:1949
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ...	ORPHA:1935
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness, Diff...	ORPHA:353327
Brain Small Vessel Disease 2	Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Intracranial hemorrhage...	OMIM:614483
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona...	ORPHA:140927
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Abnorma...	OMIM:540000
Alpers-Huttenlocher Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul...	OMIM:256731
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ...	ORPHA:66529
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity...	OMIM:619911
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Ataxia, Myoclonus	OMIM:204500
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, A...	OMIM:616645
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m...	ORPHA:263516
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e...	OMIM:617711
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys...	OMIM:619028
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure...	OMIM:619913
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia	OMIM:617862
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,...	ORPHA:71277
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu...	OMIM:613970
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramida...	ORPHA:352596
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:615338
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Hyperekplexia 3	Exaggerated startle response, Bilateral tonic-clonic seizure, Hypertonia, Syncope, Myoclonus	OMIM:614618
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia	OMIM:620265
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Unilateral Focal Polymicrogyria	EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit...	ORPHA:268947
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Bilateral tonic-clonic seizure, Epistaxis, Spastic paraplegia, Intracranial hemor...	ORPHA:369929
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus	OMIM:618285
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Coenzyme Q10 Deficiency, Primary, 5	Seizure, Hypertonia, Bradycardia	OMIM:614654
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Scorpion Envenomation	Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo...	ORPHA:466677
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa...	ORPHA:561854
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:79137
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block, Truncal ataxia, Intention tremor	OMIM:614407
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619301
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi...	OMIM:617976
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus	OMIM:300699
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxia, Clumsiness, Nonpr...	ORPHA:453521
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis, Hearing impairment	OMIM:312910
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, EEG abnormality, Convulsive status epilepticus, Dystonia	OMIM:618760
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Spinocerebellar Ataxia, Autosomal Recessive 10	Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor	OMIM:613728
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Hypertens...	OMIM:615474
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Ataxia	OMIM:618951
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dystonia, Loss...	OMIM:618088
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus	OMIM:619065
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Focal clonic seizure,...	OMIM:220120
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s...	OMIM:609446
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure...	ORPHA:208441
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent...	OMIM:614307
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Limb dysmetria	ORPHA:324262
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ...	OMIM:117360
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait	OMIM:618387
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus	OMIM:619971
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ...	OMIM:617600
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor	OMIM:620221
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status...	ORPHA:225147
Congenital Myopathy 24	Cardiomyopathy, First degree atrioventricular block	OMIM:617336
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Spasticity	OMIM:616277
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia	ORPHA:228169
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Hypsarrhythm...	OMIM:612164
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness...	ORPHA:157941
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Seizure, Tip-toe gait, Gait di...	ORPHA:216866
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure	OMIM:618501
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd...	OMIM:614831
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Spastic tetraplegia	OMIM:618237
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Lissencephaly 3	Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Agenesis of corpus callosum...	OMIM:611603
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia	OMIM:203740
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Spasticity, Dystonia, Progressive sensorine...	OMIM:304700
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera...	OMIM:612016
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb...	OMIM:607565
Combined Oxidative Phosphorylation Defect Type 27	Multifocal seizures, Hypoplastic hippocampus, Involuntary movements, Upper limb postural tremor, ...	ORPHA:477774
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia	ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:618856
Nipah Virus Disease	Tremor, Seizure, Myoclonus, Hypotension	ORPHA:99825
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Sarcosinemia	Ataxia, Bilateral tonic-clonic seizure, Tetraparesis, Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:3129
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Congestive heart failure, Focal-onset seizure, ...	ORPHA:91131
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai...	ORPHA:93952
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Gait ataxia, Seizure, Gait disturbance, ...	OMIM:614458
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Episodic Ataxia Type 3	Episodic ataxia, Seizure, Hemiplegia	ORPHA:79135
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function, Hearing impairment	OMIM:165300
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Sensorineural heari...	ORPHA:464282
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Clumsines...	OMIM:616127
Pontocerebellar Hypoplasia Type 4	Seizure, Hypertonia, Myoclonus	ORPHA:166063
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Mitochondrial Complex I Deficiency, Nuclear Type 37	Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilepticus, Bradycardia, Pulmonary arteri...	OMIM:619272
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Cln5 Disease	Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Inability to walk, Fo...	ORPHA:228360
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic parapare...	ORPHA:391417
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic...	ORPHA:99802
Intellectual Developmental Disorder, X-Linked 104	Tremor, Seizure, Spasticity, Ataxia	OMIM:300983
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei...	OMIM:618917
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin...	ORPHA:521406
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, Seizure	OMIM:226750
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G...	ORPHA:163985
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo...	OMIM:617290
Combined Oxidative Phosphorylation Deficiency 10	Seizure, Hypertrophic cardiomyopathy, Bradycardia, Spasticity	OMIM:614702
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin...	ORPHA:79263
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Cardiac arrest, Myoclonus	ORPHA:168593
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610090
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Seizure, Athetosis, Myoclonus, Hypertrophic cardiomyopathy	OMIM:618241
Spinocerebellar Ataxia 17	Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ...	OMIM:607136
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Congenital Disorder Of Glycosylation, Type In	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:612015
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Tetanus	Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of...	ORPHA:3299
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Chorea, Myoclonic seizure, Seizure, Hyperkinetic movements, Focal impaired aware...	OMIM:614254
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, EEG abnormality, Dystonia, A...	ORPHA:457205
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:618412
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia...	OMIM:616719
Glutathione Synthetase Deficiency	Seizure, Ataxia, Spastic tetraparesis, Intention tremor	OMIM:266130
Severe Neonatal-Onset Encephalopathy With Microcephaly	Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di...	ORPHA:209370
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:617082
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener...	OMIM:619616
Spinocerebellar Ataxia Type 10	Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady gait, Babinski sign, F...	ORPHA:98761
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Limb dystonia	OMIM:620270
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Spastic Paraplegia 86, Autosomal Recessive	Ataxia, Inability to walk, Spastic paraplegia, Babinski sign, Choreoathetosis, Febrile seizure (w...	OMIM:619735
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Spastic Paraplegia 89, Autosomal Recessive	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Spastic paraplegia, Ataxia	OMIM:620379
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Phosphoserine Aminotransferase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610992
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch...	OMIM:614487
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic...	OMIM:619428
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Unsteady gait, Sensory...	ORPHA:2932
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Abnormality of extrapyramidal motor function, Bradycardia, Spast...	OMIM:616299
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur...	OMIM:159950
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasticity, Telangie...	ORPHA:79279
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile...	ORPHA:477673
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre...	ORPHA:90117
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Spinocerebellar Ataxia 13	Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas...	OMIM:605259
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure...	OMIM:271980
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Abeta Amyloidosis, Iowa Type	Myoclonus, Cerebral hemorrhage	ORPHA:324708
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Dilated cardiomyopathy, Babinski sign, Spasticity, Seizure, Myoclonus, Truncal ataxia, Hy...	OMIM:252011
Peho-Like Syndrome	Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Hypsarrhythmia	OMIM:617507
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Kearns-Sayre Syndrome	Ataxia, Cardiomyopathy, Seizure, Third degree atrioventricular block, Arrhythmia	OMIM:530000
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p...	OMIM:254210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Parkinsonism, Cardiomyopathy, Seizure, Bradycardia, Arrhythmia	OMIM:609286
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Pontocerebellar Hypoplasia, Type 4	Seizure, Spasticity, Hypertonia, Myoclonus	OMIM:225753
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Hypertension, Seiz...	ORPHA:363400
Spinocerebellar Ataxia, Autosomal Recessive 26	Impaired distal proprioception, Unsteady gait, Impaired distal vibration sensation, Dysmetria, Ga...	OMIM:617633
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia...	ORPHA:542310
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr...	ORPHA:289266
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon...	ORPHA:363654
Glutamine Deficiency, Congenital	Neonatal death, Seizure, Bradycardia	OMIM:610015
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Ba...	OMIM:618170
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga...	OMIM:616795
Infantile Cerebellar-Retinal Degeneration	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural hearing impairment, At...	OMIM:614559
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Seizure, Abnormal social behavior, Low-set ears	ORPHA:436151
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity	ORPHA:33445
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance	OMIM:603472
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Mitral ...	ORPHA:309155
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-...	ORPHA:485350
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia	ORPHA:306511
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo...	OMIM:604802
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Multifocal seizures, Bilateral tonic-clonic seizure, Clonus,...	ORPHA:480864
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei...	ORPHA:363558
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Hypertension, Myoclonic spasms...	OMIM:184850
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Ceroid Lipofuscinosis, Neuronal, 1	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:256730
Atypical Rett Syndrome	Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Impaired pain s...	ORPHA:3095
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at...	ORPHA:352403
Cochleosaccular Degeneration-Cataract Syndrome	Seizure, Ataxia	ORPHA:3233
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Supraventricular arrhythmia, Limb tremor, Myoclonus, Head tremor	ORPHA:420492
Spinocerebellar Ataxia, Autosomal Recessive 32	Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthria, Dysdia...	ORPHA:313772
Developmental And Epileptic Encephalopathy 47	Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptiform disch...	OMIM:617166
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk...	OMIM:609270
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei...	ORPHA:1945
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh...	OMIM:617105
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p...	OMIM:605809
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618470
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Abnormal pyramidal si...	OMIM:308350
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Myoclonus, Dysmetria	OMIM:618251
Juvenile Huntington Disease	Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc...	ORPHA:248111
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati...	ORPHA:137898
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto...	OMIM:261640
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ...	OMIM:301058
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	EEG abnormality, Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure	OMIM:604317
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Seizure	OMIM:619470
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Severe Canavan Disease	Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Decerebrate rigidity, ...	ORPHA:314911
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Cerebellar gliosis, ...	ORPHA:79243
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Thyrocerebrorenal Syndrome	Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta ...	ORPHA:98784
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Gait...	ORPHA:488635
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor	OMIM:203450
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com...	OMIM:619338
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Sulfite Oxidase Deficiency, Isolated	Generalized dystonia, Ataxia, Eczema, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia...	OMIM:272300
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T...	OMIM:300607
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff...	ORPHA:529665
Glycine Encephalopathy 1	Seizure, Myoclonus	OMIM:605899
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conduction, Spastic tetraparesis,...	ORPHA:3208
Variegate Porphyria	Tachycardia, Paralysis	OMIM:176200
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Multifocal seizures, Ataxia, Involuntary movements, Choreoathetosis, Status epilepticus, Dystonia...	OMIM:615905
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
Behavioral Variant Of Frontotemporal Dementia	Bilateral tonic-clonic seizure, Astrocytosis, Inappropriate behavior, Gait disturbance, Fascicula...	ORPHA:275864
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:615476
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, P...	ORPHA:79264
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Hyperekplexia 4	Seizure, Hypertonia, Myoclonus	OMIM:618011
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:620200
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Seizure, Myoclonus, Neonatal death...	OMIM:620167
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Gliosi...	ORPHA:457240
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb ataxia, Dysmetria, Hand tremor, Tongue fasciculations, Difficulty wal...	ORPHA:276198
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Vocal cord paralysi...	ORPHA:98863
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 23	Seizure, Arrhythmia, Ataxia	OMIM:616949
Riboflavin Transporter Deficiency	Ataxia, Tremor, Hypertension, Seizure, Myoclonus	ORPHA:97229
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Spinocerebellar Ataxia 4	Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment	OMIM:600223
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic ...	OMIM:600721
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure	ORPHA:3124
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni...	ORPHA:13
Band Heterotopia	Hypoplastic hippocampus, Seizure, Lateral ventricle dilatation, Spasticity, Agenesis of corpus ca...	OMIM:600348
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign...	ORPHA:94125
Glossopharyngeal Neuralgia	Jaw claudication, Vocal cord paralysis, Seizure, Syncope, Bradycardia	ORPHA:221098
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Epiphora, Malar rash,...	ORPHA:330058
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, ...	OMIM:617435
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Babinski sign, Myoclonus, Apraxia	OMIM:618193
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple...	ORPHA:206443
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Syncope, Palpitation...	OMIM:170390
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Seizure, Pulmonary arterial hypertension	OMIM:617021
Late Infantile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox...	ORPHA:168491
Glutathionuria	Eczema, Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:620094
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking...	ORPHA:306669
Pontocerebellar Hypoplasia, Type 2E	Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t...	OMIM:615851
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Tremor, Inability to walk, Inappropriate laughter, Macrotia	OMIM:616269
Roussy-Levy Hereditary Areflexic Dystasia	Action tremor, Upper limb postural tremor, Distal sensory impairment, Gait ataxia	OMIM:180800
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper...	OMIM:620028
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr...	ORPHA:240094
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab...	OMIM:183090
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity	OMIM:609260
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Hypoplastic hippocampus, Reduced amygdala volume, Tonic seizure, Focal-onset seizure, Partial age...	OMIM:619517
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity	OMIM:618225
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia, Loss of ambulation,...	OMIM:607694
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rigidity, Chorea, Abnor...	ORPHA:98759
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset, Clumsiness	ORPHA:158
Thyrocerebroretinal Syndrome	Seizure, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz...	OMIM:615716
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:604218
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a...	OMIM:208920
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig...	OMIM:615157
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait	OMIM:615031
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Developmental And Epileptic Encephalopathy 66	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C...	OMIM:618067
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Spontaneous Periodic Hypothermia	Tremor, Seizure, Ataxia, Gait disturbance	ORPHA:29822
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Secondary Syringomyelia	Somatic sensory dysfunction, Paraplegia, Sensory ataxia, Fatigable weakness, Progressive cerebell...	ORPHA:99857
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Athetosis, Myoclonus	OMIM:617235
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Lower limb spasticity, Abnormal pyramidal sign, Cardiomyopathy, Progressive gait at...	ORPHA:1177
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Seizure, Mitral regurgitation, Myoclonus...	OMIM:619167
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality of extrapy...	OMIM:607822
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr...	OMIM:302800
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of e...	ORPHA:289494
Myasthenic Syndrome, Congenital, 16	Fatigable weakness, Gait disturbance, Periodic paralysis	OMIM:614198
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Involuntary movements, Babinski sign, Ankle clonus, Seizure, Bradycardia, ...	ORPHA:565624
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa...	OMIM:616281
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal...	OMIM:607483
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Serotonin Syndrome	Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Seizure, Hypertonia, Myoclonus, Hypotension	ORPHA:43116
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Blepharonasofacial Malformation Syndrome	External ear malformation, Lacrimation abnormality, Torsion dystonia, Hearing impairment	ORPHA:1252
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff...	ORPHA:98772
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Opisthotonus...	OMIM:271900
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Myasthenic Syndrome, Congenital, 5	Fatigable weakness, Prolonged miniature endplate currents	OMIM:603034
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Crigler-Najjar Syndrome Type 1	Tremor, Seizure, Hearing impairment	ORPHA:79234
Familial Congenital Mirror Movements	Cerebral palsy, Dysgenesis of the hippocampus, Clumsiness, Poor fine motor coordination, Agenesis...	ORPHA:238722
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilated cardiomyopa...	OMIM:620300
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia...	OMIM:619877
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Spastic te...	OMIM:618598
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi...	ORPHA:276556
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	ORPHA:329284
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity	OMIM:618201
Schindler Disease, Type I	Seizure, Spasticity, Myoclonus	OMIM:609241
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap...	OMIM:618060
Autoimmune Hypoparathyroidism	Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Myoclonic spas...	ORPHA:36913
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,...	OMIM:602481
Chondroectodermal Dysplasia With Night Blindness	Epiphora, Difficulty walking, Gait disturbance, Otitis media	ORPHA:319195
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,...	OMIM:311510
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Posttransplant Acute Limbic Encephalitis	Ataxia, Abnormal hippocampus morphology, Seizure, Myoclonus, Dystonia	ORPHA:163921
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func...	OMIM:605711
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Seiz...	OMIM:601338
Spinocerebellar Ataxia 34	Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp...	OMIM:133190
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Acquired Methemoglobinemia	Tachycardia, Seizure, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Sneddon Syndrome	Tremor, Seizure, Chorea, Hemiparesis	ORPHA:820
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Fatigable weakness, Prolonged miniature endplate currents	OMIM:601462
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se...	ORPHA:544254
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Keratoendotheliitis Fugax Hereditaria	Keratitis, Epiphora	OMIM:148200
Ataxia-Telangiectasia-Like Disorder	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque...	ORPHA:251347
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia, Tongue fasciculations	OMIM:608800
Congenital Disorder Of Glycosylation, Type Im	Seizure, Dilated cardiomyopathy, Bradycardia, Tetraplegia	OMIM:610768
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention t...	OMIM:618356
Illum Syndrome	Bradycardia	OMIM:208155
Congenital-Onset Steinert Myotonic Dystrophy	Speech apraxia, Bundle branch block, Poor fine motor coordination, First degree atrioventricular ...	ORPHA:589821
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G...	OMIM:616640
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s...	ORPHA:401866
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Pseudo-Torch Syndrome 2	Seizure, Bradycardia, Cerebral hemorrhage	OMIM:617397
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic...	OMIM:619580
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia	OMIM:250620
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc...	ORPHA:411986
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Seizure, Tachycardia	ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus	OMIM:619057
Spinocerebellar Ataxia 6	Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,...	OMIM:183086
Cystathioninuria	Tremor, Seizure	ORPHA:212
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc...	OMIM:619854
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Dilated cardiomyopathy, Spasticity, Seizure, Abnormality of extrapyramidal motor function...	OMIM:614299
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Encephalitis Lethargica	Tremor, Seizure, Parkinsonism, Bradycardia	ORPHA:83600
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi...	ORPHA:276575
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Hypertrophic cardiomyopathy, Myoclonus	OMIM:614462
Coproporphyria, Hereditary	Hypertension, Tachycardia, Respiratory paralysis	OMIM:121300
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ...	OMIM:619983
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epilepti...	OMIM:619827
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Spinocerebellar Ataxia Type 18	Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Alexander Disease Type I	Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor	ORPHA:363717
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi...	ORPHA:442835
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Reduction of ...	OMIM:312080
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi...	ORPHA:276580
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Developmental And Epileptic Encephalopathy 61	Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio...	OMIM:617933
Lissencephaly Due To Tuba1A Mutation	Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Infantile spasms, Dysgenesis of the hipp...	ORPHA:171680
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Seizure, Low-set ears, Spasticity, Paroxysmal bursts of laughter	OMIM:618718
Narp Syndrome	Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms	ORPHA:644
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Bilateral tonic-clonic seizure	OMIM:618120
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Seizure, Hypertonia	OMIM:619556
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert...	ORPHA:70594
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Febrile seizure (within the age range of 3 months to 6 years), Abnormal electro...	OMIM:609438
Neuraminidase Deficiency	Slurred speech, Dysmetria, Cardiomyopathy, Seizure, Myoclonus	OMIM:256550
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	OMIM:300894
Mitochondrial Dna Depletion Syndrome 19	Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity	OMIM:618972
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Absent hippocampal commissure, Unsteady gait, Hemiparesis, Seizure, Agenesis of corpus callosum	OMIM:617542
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, Hy...	OMIM:619847
Intellectual Developmental Disorder, X-Linked 30	Bilateral tonic-clonic seizure, Hydrocephalus, Generalized non-motor (absence) seizure, Clumsines...	OMIM:300558
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni...	OMIM:617281
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Uveitis, Seizure, Dec...	ORPHA:90321
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ...	OMIM:616505
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Seizure, Shuffling...	ORPHA:3077
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur...	ORPHA:52368
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:94090
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Seizure, Arrhythmia	ORPHA:2151
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia	OMIM:312170
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Ataxia, Tremor, Inability to walk, Chorea, Truncal ataxia, Athetos...	OMIM:615356
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se...	ORPHA:1942
Aicardi-Goutieres Syndrome 6	Chilblains, Tremor, Rigidity, Dystonia, Loss of ambulation	OMIM:615010
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f...	ORPHA:98795
Hyperekplexia 1	Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures	OMIM:149400
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyopathy, Seizure, Hype...	ORPHA:445038
Ogden Syndrome	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Ventricular tachycardia, ...	OMIM:300855
Lissencephaly 9 With Complex Brainstem Malformation	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Dysgenesis of the hippoc...	OMIM:618325
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Decreased miniature endplate potentials	OMIM:608930
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus, Myoclonic seizure	OMIM:618240
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Ataxia, Infantile spasms, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, Gait ...	OMIM:618321
Huntington Disease	Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure...	ORPHA:399
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Febrile seizure (within the age range of 3 months to 6 years), Arrhythmia, Bilateral tonic-clonic...	ORPHA:42
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S...	ORPHA:268943
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L...	ORPHA:845
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus	OMIM:616398
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Seizure, Stillbirth, Myoclonus, Tongue fasciculations, Neonatal death	OMIM:614922
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g...	OMIM:617013
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Bilateral tonic-clonic seizure, Rigidity, Abnormal pyramidal sign, Hemiparesis, P...	ORPHA:199354
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial...	ORPHA:79102
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status...	OMIM:612949
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe...	OMIM:620292
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w...	OMIM:617988
Gaucher Disease, Type Iii	Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ...	OMIM:617854
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615637
Congenital Sialidosis Type 2	Abnormal EKG, Ataxia, Dysmetria, Telangiectasia, Seizure, Myoclonus, Spasticity	ORPHA:93400
Caribbean Parkinsonism	Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ...	ORPHA:97355
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia	OMIM:619422
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Generalized-onset seizure, Tremor, Hemiparesis, Seizure, Hypertonia	OMIM:619737
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on...	ORPHA:501
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Cardiomyopathy, Abnormal pyramidal sign, Abnormal atrioventricular conduction, Limb dysmetria	ORPHA:329336
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis...	OMIM:608643
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti...	ORPHA:488613
Infantile Krabbe Disease	Lower limb spasticity, Spastic diplegia, Opisthotonus, Abnormal heart rate variability, Seizure, ...	ORPHA:206436
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Cardiac arrest, Clonus, Poor coordination, Ventricular tachycardia, Spastic tetraplegia, ...	OMIM:616878
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat...	OMIM:619574
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Seizure, Myoclonus, Apraxia, Spasticity	OMIM:221770
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar...	ORPHA:90068
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Spastic tetraparesis, Seizure, Hypertonia, Myoclonus	ORPHA:284417
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban...	ORPHA:765
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea,...	ORPHA:2131
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Spasticity, Gait ataxia, Clumsiness, Seizure, Progressive gait ataxia, Tip-toe gai...	ORPHA:309256
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Seizure, Myoclonus	OMIM:300673
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu...	OMIM:616586
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Spasticity, Protruding ear, Seizure, L...	ORPHA:481152
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa...	ORPHA:329308
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Posteriorly rotated ears, Infantile spasms, Dysgenesis of the hippocampus, Noncommunicati...	OMIM:619320
Developmental And Epileptic Encephalopathy 46	Tremor, Seizure, Generalized-onset seizure, Limb hypertonia	OMIM:617162
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Congestive heart failure, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic mo...	OMIM:616271
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Seizure	ORPHA:261295
Intellectual Developmental Disorder, X-Linked 12	Tremor, Sensorineural hearing impairment, Seizure, Hyperkinetic movements, Gait disturbance, Glio...	OMIM:300957
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Pyridoxal Phosphate-Responsive Seizures	Seizure, Hypertonia, Status epilepticus, Myoclonus	ORPHA:79096
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Opisthotonus, Status epilepti...	OMIM:616672
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Myoclonus	OMIM:600795
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Lacrimation abnormality	ORPHA:1484
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Dysgenesis of the hippocampus, Inability to walk, Focal-onset seizur...	ORPHA:300570
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert...	OMIM:618056
Van Den Bosch Syndrome	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, EEG with bu...	ORPHA:1934
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Seizure, Hyperton...	OMIM:617710
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Hypertonia, Hypertension, Premature ventricular contraction	OMIM:602535
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Ritscher-Schinzel Syndrome 4	Ataxia, Bilateral tonic-clonic seizure, Dysgenesis of the hippocampus, Focal-onset seizure, Chore...	OMIM:619435
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Bilateral tonic-clonic s...	OMIM:201475
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Right hemiplegia, Hypertrophic cardiomyop...	OMIM:607426
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
D-Glyceric Aciduria	Seizure, Chorea, Myoclonus, Spasticity	ORPHA:941
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres...	OMIM:616973
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epilepticus, Abnorma...	OMIM:615673
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Lujo Hemorrhagic Fever	Shock, Resting tremor, Bilateral tonic-clonic seizure, Myocarditis, Subconjunctival hemorrhage, S...	ORPHA:319213
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Periodic paralysis	OMIM:188580
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,...	ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:618234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Seizure, Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Limbal Stem Cell Deficiency	Blepharospasm, Keratitis, Lacrimation abnormality, Epiphora	ORPHA:171673
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Seizure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Congenital Myopathy 22A, Classic	Neonatal death, Frequent falls, Tricuspid regurgitation, Bradycardia	OMIM:620351
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Metachromatic Leukodystrophy, Juvenile Form	Babinski sign, Spasticity, Clumsiness, Seizure, Progressive gait ataxia, Cholecystitis, Bilateral...	ORPHA:309263
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil...	ORPHA:544503
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Status epilepticus	OMIM:613870
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Myoclonus	OMIM:619060
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Seizure, Progressive spastic quadr...	ORPHA:309246
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Seizure, Hypertonia...	OMIM:617864
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Photosensitive myoclonic ...	ORPHA:1192
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Hypoglycemic seizures	ORPHA:324575
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula...	OMIM:193003
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Prolonged miniature endplate currents, Abnormal synaptic transmission at the neuro...	ORPHA:98915
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Neonatal death, Generalize...	OMIM:615501
Spinocerebellar Ataxia Type 13	Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus	ORPHA:98768
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, My...	OMIM:268800
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Lacrimation abnormality, Abnormalit...	ORPHA:949
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Hypsar...	ORPHA:457351
Waardenburg Syndrome Type 1	Lacrimation abnormality, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, ...	ORPHA:894
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypoplastic hippocampus, Eczema, Recurrent pneumonia, Seizure, Septic arthritis, Hearing impairment	OMIM:617780
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp...	OMIM:614381
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Seizure, Hearing impairment	OMIM:620114
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor	ORPHA:363722
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Seizure, Hypertonia, Bradycardia, Neonatal death	OMIM:617248
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Lacrimation abnormality	ORPHA:1882
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
Subependymal Nodular Heterotopia	Focal-onset seizure, Seizure, Limb myoclonus, Focal aware seizure	ORPHA:101030
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Sialidosis Type 2	Tremor, Seizure, Ataxia	ORPHA:87876
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal...	ORPHA:683
Pontocerebellar Hypoplasia, Type 13	Hypoplastic hippocampus, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Status epi...	OMIM:618606
Rhizomelic Chondrodysplasia Punctata, Type 5	Seizure, Sinus tachycardia, Convulsive status epilepticus	OMIM:616716
Sepsis In Premature Infants	Seizure, Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Vernal Keratoconjunctivitis	Punctate keratitis, Lacrimation abnormality	ORPHA:70476
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Intracranial hemorrhage, Pseudobulbar p...	ORPHA:449285
Postsynaptic Congenital Myasthenic Syndromes	Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur...	ORPHA:98913
Paroxysmal Hemicrania	Focal sensory seizure with olfactory features, Rhinitis, Epiphora	ORPHA:157835
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Sensorineural hearing impairment, Spast...	OMIM:609136
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ...	OMIM:606002
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Sudden cardiac death, Congestive heart failure, Dilated cardiomyo...	ORPHA:73224
Biotinidase Deficiency	Skin rash, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Sensorineural he...	ORPHA:79241
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Seizure, Myoclonus	OMIM:616158
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Sneddon Syndrome	Tremor, Seizure, Hemiplegia, Impaired distal tactile sensation	OMIM:182410
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus,...	OMIM:619055
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, Abnormal p...	ORPHA:3452
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Infantile spasms, Inability to walk, Chorea, Oculomotor apraxia, Generalized non-motor (absence) ...	ORPHA:404454
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Spasticity, Clumsiness, Seizure, Progressive gait ataxia, Progressive spas...	ORPHA:309271
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Involuntary movements, Infantile spasms, Abnormal hippocampus morphology, Myoclonic seizure, Spas...	ORPHA:572013
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici...	OMIM:616881
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Branchiootorenal Syndrome 1	Mixed hearing impairment, Lacrimation abnormality, Dilatated internal auditory canal, Hypoplasia ...	OMIM:113650
11Q22.2Q22.3 Microdeletion Syndrome	Seizure, Abnormal social behavior, Posteriorly rotated ears, Low-set ears	ORPHA:444002
Neurotrophic Keratopathy	Anterior uveitis, Lacrimation abnormality, Allodynia	ORPHA:137596
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Low-set ears, Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor	OMIM:618381
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Periodic paralysis	OMIM:613239
Mercury Poisoning	Tachycardia, Tremor, Hypertension, Seizure, Hypotension	ORPHA:330021
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Tongue...	OMIM:614969
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Ataxia-Telangiectasia	Ataxia, Tremor, Seizure, Gait disturbance, Spasticity	ORPHA:100
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus...	ORPHA:395
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal...	OMIM:614947
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,...	ORPHA:268940
Focal Facial Dermal Dysplasia Type Iii	Lacrimation abnormality	ORPHA:1807
Pitt-Hopkins-Like Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Stat...	OMIM:610042
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication	OMIM:259900
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ...	OMIM:105210
Valinemia	Hyperkinetic movements	OMIM:277100
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ...	ORPHA:447753
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M...	OMIM:272750
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Babinski sign, Sinus bradycardia, Ankle clonus, Spasticity	OMIM:618397
Melas	Wolff-Parkinson-White syndrome, Abnormal central motor function, Bilateral tonic-clonic seizure, ...	ORPHA:550
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic...	ORPHA:79351
X-Linked Intellectual Disability Due To Gria3 Mutations	Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Spasticity	ORPHA:364028
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma...	OMIM:614298
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Tachycardia, Hypotension	OMIM:145600
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Overfolded helix, Bilateral tonic-clonic seizure, Impaired social interactions	OMIM:616083
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Gerstmann-Straussler-Scheinker Syndrome	Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia	ORPHA:356
Idiopathic Camptocormia	Abnormal synaptic transmission at the neuromuscular junction, Dystonia, Parkinsonism, Fatigable w...	ORPHA:1320
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Seizure, Dilated cardiomyopathy, Myoclonus, Gait ataxia	ORPHA:70595
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk...	OMIM:617193
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Atrioventricular block, Seizure, Hypertonia,...	ORPHA:581
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Neuroleptic Malignant Syndrome	Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Hypertension, ...	ORPHA:94093
Peho Syndrome	Seizure, Myoclonus	OMIM:260565
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Spas...	ORPHA:93399
Developmental And Epileptic Encephalopathy 95	Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Inability ...	OMIM:618143
Fructose-1,6-Bisphosphatase Deficiency	Seizure, Tachycardia	OMIM:229700
Adenylosuccinase Deficiency	Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Neuroblastoma, Susceptibility To, 1	Hypertension, Ataxia, Myoclonus	OMIM:256700
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Bilateral tonic-clonic seizure, Recurrent pneumonia, Tetraplegia, Spasticity, Fasciculati...	ORPHA:496641
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor (absence) seizure, M...	OMIM:615398
Sandifer Syndrome	Abnormal posturing, Torticollis, Esophagitis	ORPHA:71272
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Seizure, Myoclonus	ORPHA:812
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms	OMIM:618374
Mitochondrial Dna-Associated Leigh Syndrome	Bilateral tonic-clonic seizure, Ataxia, Cardiac conduction abnormality, Infantile spasms, Chorea,...	ORPHA:255210
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Seizure, Epileptic spasm, Myoclonus	OMIM:617669
Hermansky-Pudlak Syndrome 10	EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia	OMIM:617050
Mepan Syndrome	Chorea, Ataxia, Myoclonus, Spasticity	ORPHA:508093
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Gait ataxia, Cardiomyopathy, Seizure, Hyperkinetic movements, Spasticity	OMIM:620089
Optic Atrophy-Intellectual Disability Syndrome	Abnormal hippocampus morphology, Protruding ear, Seizure, Abnormal helix morphology, Spasticity, ...	ORPHA:401777
Porphyria, Acute Intermittent	Tachycardia, Paralysis, Hypertension, Seizure, Respiratory paralysis	OMIM:176000
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Choreoacanthocytosis	Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of ton...	ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Bilateral tonic-clonic seizure, Hearing impairment	OMIM:616351
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se...	OMIM:619835
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton...	ORPHA:314655
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy	OMIM:618218
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Seizure, Histiocytoid cardiomyop...	OMIM:300952
Microcephaly-Capillary Malformation Syndrome	Hypoplastic hippocampus, Infantile spasms, Spastic tetraparesis, Seizure, Myoclonus, Low-set ears...	OMIM:614261
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral tonic-clonic seizure, Keratitis, Sensorineural hearing impairment, Babinski sig...	OMIM:278800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici...	ORPHA:171695
Severe X-Linked Intellectual Disability, Gustavson Type	Seizure, Spasticity, Hypertonia, Myoclonus	ORPHA:3078
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Seizure, Myoclonus	ORPHA:251004
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized...	OMIM:300672
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Generaliz...	OMIM:619229
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Atrial fibrillation, Ataxia, Tremor, Rigidity, Dilated cardiomyopathy, Gait ataxi...	ORPHA:254892
Cog8-Cdg	Seizure, Ataxia, Myoclonus	ORPHA:95428
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Japanese Encephalitis	Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor...	ORPHA:79139
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Spasticity	ORPHA:500144
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Eczema, Seizure, Lower limb hypertonia, Recurrent otitis media	OMIM:169400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my...	OMIM:613839
Neurodevelopmental Disorder With Spasticity And Poor Growth	Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Seizure, Limb h...	OMIM:618076
Warburg Micro Syndrome 3	Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My...	OMIM:614222
Houge-Janssens Syndrome 3	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz...	OMIM:618354
Congenital Insensitivity To Pain With Severe Intellectual Disability	Bilateral tonic-clonic seizure, Multifocal epileptiform discharges	ORPHA:453510
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Prominent...	OMIM:615802
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Cardiac arrest, Spastic hemiparesis, Dilated cardiomyopathy, Seizure, Myoclonus, Hypotens...	ORPHA:20
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Hyperostosis Cranialis Interna	Sensorineural hearing impairment, Tinnitus, Epiphora	OMIM:144755
African Trypanosomiasis	Abnormal EKG, Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tr...	ORPHA:3385
Atrial Septal Defect 1	Second degree atrioventricular block, Aortic valve stenosis	OMIM:108800
Lacrimal Duct Defect	Sinusitis, Conjunctivitis, Epiphora	OMIM:149700
Proximal Spinal Muscular Atrophy	Bradycardia, Tongue fasciculations	ORPHA:70
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Cardiomyopathy	OMIM:619566
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo...	OMIM:620070
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Athetosis,...	ORPHA:25
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Myoclonic seizure, Limb hypertonia, Fasciculations, Hearing...	OMIM:620327
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, G...	OMIM:300912
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se...	OMIM:620224
Classic Phenylketonuria	Eczema, Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia	ORPHA:79254
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Cerebral palsy, Skin rash, Ataxia, Hemiplegia/hemiparesis, Sensorineural hearing im...	ORPHA:36412
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Seizure, Spasticity, Myoclonus	OMIM:246450
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension, Cortical myoclonus	ORPHA:428
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Tremor, Hydrocephalus, Seizure, Gait di...	ORPHA:220497
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs...	OMIM:619777
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Seizure, Arthritis, Bilateral sensorineural hearing impairment	ORPHA:397744
Cinca Syndrome	Skin rash, Uveitis, Seizure, Arthritis, Progressive sensorineural hearing impairment, Hearing imp...	OMIM:607115
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus	OMIM:609541
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Bilateral tonic-clonic seizure, Inability to walk, Sensorineural hearing impairment, Generalized ...	OMIM:614207
Hyperphosphatasia-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Ataxia, Telangiectasia, Seizure, Myoclonus, Oculomotor apraxia	ORPHA:247262
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Sensorineural hearing impairment, B...	ORPHA:423479
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus callosum, Sensorineural hearin...	ORPHA:488627
Waardenburg Syndrome	Conductive hearing impairment, Myelomeningocele, Lacrimation abnormality, Hearing impairment	ORPHA:3440
Hydroxykynureninuria	Tachycardia, Hypertonia, Hypotension	ORPHA:79155
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Bilateral tonic-clonic seizure, Eczema, Pneumonia, B...	ORPHA:436159
Tay-Sachs Disease	Seizure, Exaggerated startle response	OMIM:272800
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Seizure, Reduced left ventricula...	ORPHA:99829
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sensorineural hearing impairment, Decreased lacrimation, Conjunctivitis, Erythroderma	OMIM:242150
Hereditary Coproporphyria	Seizure, Tachycardia	ORPHA:79273
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic...	ORPHA:391428
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Seizure, Dystonia	ORPHA:438216
Friedreich Ataxia	Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Limb ataxia, Gait ataxia, Hypertro...	OMIM:229300
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Athetosis, Seizure, Hyperkinetic mov...	OMIM:615273
Slc35A2-Cdg	Hypoplastic hippocampus, Spastic tetraparesis, Infantile spasms, Inability to walk, Sensorineural...	ORPHA:356961
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora, Cupped ear, Low-set ears	OMIM:167730
Cntnap2-Related Developmental And Epileptic Encephalopathy	Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Focal-onset sei...	ORPHA:163681
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Ataxia, Action tremor, Inability to walk, Spasti...	ORPHA:191
3P25.3 Microdeletion Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Pulmonic stenosi...	ORPHA:435638
Refsum Disease	Ataxia, Heart block, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Cardiomyopathy	ORPHA:773
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity	OMIM:176500
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment	OMIM:120100
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz...	ORPHA:139396
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Eczema, Bilateral tonic-clonic seizure, Inability to walk, Vocal c...	OMIM:617799
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis	OMIM:617186
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspi...	ORPHA:646
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic...	OMIM:252160
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing...	OMIM:618733
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Hypoplastic hippocampus, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, No...	ORPHA:314647
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myoclonus, Ap...	ORPHA:209905
Angelman Syndrome	Ataxia, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypical absence seizur...	ORPHA:72
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Ataxia, Sensorineural hearing impairment, Abnormal pyramidal sign, Seizure, Spasticity, Decreased...	ORPHA:163746
Herpes Simplex Virus Stromal Keratitis	Keratitis, Epiphora	ORPHA:137599
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Lacrimation abnormality	ORPHA:2315
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Tremor, Hydrocephalus, Seizure, Gait di...	ORPHA:220493
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Epiphora	ORPHA:98957
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Lacrimation abnormality	ORPHA:2916
Scrub Typhus	Anterior uveitis, Skin rash, Tremor, Myocarditis, Seizure, Infectious encephalitis	ORPHA:83317
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Bilateral tonic-clonic seizure, Underfolded helix, Posteriorly rotated ears, Focal-onset seizure,...	OMIM:618316
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,...	OMIM:254900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Hypertonia, Hyperkinetic movements	OMIM:236270
Lamb-Shaffer Syndrome	Seizure, Abnormal social behavior, Ataxia, Upper motor neuron dysfunction	ORPHA:530983
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ataxia, Dilated cardiomyopathy, Babinski sign, Dysmetria, Gait ataxia, Seizure, Mitral regurgitat...	OMIM:607459
Immunodeficiency 23	Ataxia, Vasculitis in the skin, Cortical myoclonus, Myoclonus	OMIM:615816
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Seizure, Ataxia	ORPHA:79095
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus	OMIM:560000
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse...	OMIM:617798
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Cockayne Syndrome A	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Sensorineural hea...	OMIM:216400
Joubert Syndrome	Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Low-set ears, Oculomotor...	ORPHA:475
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Atypical absence status epilepticus, Capillary lea...	ORPHA:99826
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Sensorineural hearing impairment, Recurrent skin infections, Decreased lacrimation	OMIM:616488
Dyskeratosis Congenita, Autosomal Recessive 6	Ataxia, Epiphora	OMIM:616353
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Microphthalmia, Syndromic 11	Agenesis of corpus callosum, Hippocampal malrotation	OMIM:614402
Nmda Receptor Encephalitis	Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset ...	ORPHA:217253
Sunct Syndrome	Increased tear production, Epiphora	ORPHA:57145
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni...	OMIM:620024
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Tremor, Seizure, Ataxia, Myoclonus	ORPHA:98794
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:615538
Congenital Fibrinogen Deficiency	Tachycardia, Internal hemorrhage, Opisthotonus	ORPHA:335
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Bohring-Opitz Syndrome	Seizure, Lower limb hypertonia, Bradycardia	ORPHA:97297
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Clumsiness	ORPHA:90674
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Uveitis, Limb hypertonia, Conjunctivitis, Gait disturbance, Diffic...	ORPHA:90322
Ataxia-Telangiectasia	Conjunctival telangiectasia, Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressiv...	OMIM:208900
Combined Oxidative Phosphorylation Deficiency 14	Seizure, Myoclonus, Myoclonic seizure	OMIM:614946
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Sensorineural hea...	OMIM:133540
Wars2-Related Combined Oxidative Phosphorylation Defect	Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Lateral ...	ORPHA:572798
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Fatal Familial Insomnia	Ataxia, Myoclonus	OMIM:600072
Gitelman Syndrome	Prolonged QT interval, Paralysis, Raynaud phenomenon, Focal-onset seizure, Low-to-normal blood pr...	ORPHA:358
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Orofaciodigital Syndrome Type 3	Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia	ORPHA:2752
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Seizure, Tachycardia	ORPHA:263455
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Epiphora, Hearing impairment	OMIM:613990
Dystonia-Aphonia Syndrome	Seizure, Myoclonus	ORPHA:412217
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures	ORPHA:94089
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Seizure, Chorea, Hyperkinetic movements, Truncal ataxia	ORPHA:369847
Amish Lethal Microcephaly	Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Spina bifida, Limb hypertonia	ORPHA:99742
Meier-Gorlin Syndrome 7	Heart block, Second degree atrioventricular block	OMIM:617063
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Abnormality of extrapyramidal motor function, Difficulty walking, P...	ORPHA:320406
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation	OMIM:619705
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Pediatric-Onset Graves Disease	Atrial fibrillation, Tremor, Congestive heart failure, Hypertension, Hyperkinetic movements, Palp...	ORPHA:525731
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Wolfram Syndrome 1	Tremor, Seizure, Ataxia	OMIM:222300
Leopard Syndrome 1	Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Epithelial Recurrent Erosion Dystrophy	Keratoconjunctivitis sicca, Epiphora	ORPHA:293381
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr...	ORPHA:512
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Bilateral tonic-clonic seizure, Portal hypertension, Paraparesis, Paraplegia, Hemiparesis, Pulmon...	ORPHA:79124
W Syndrome	Spasticity, Acne, Bilateral tonic-clonic seizure	ORPHA:2804
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Epiphora	ORPHA:141083
Microtriplication 11Q24.1	Speech apraxia, Seizure, Hyperkinetic movements	ORPHA:289522
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia, Seizure, Abnormality of extrapyramidal motor function, De...	ORPHA:79255
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Ge...	OMIM:614756
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Epiphora...	OMIM:158310
Alexander Disease	Ataxia, Clonus, Tremor, Aqueductal stenosis, Hydrocephalus, Chorea, Abnormal pyramidal sign, Tetr...	ORPHA:58
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Hydrocephalus, Bilateral tonic-clonic seizure	ORPHA:238769
Eisenmenger Syndrome	Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Glass Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Seizure, Low-set ears...	OMIM:612313
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl...	OMIM:301072
Lacrimoauriculodentodigital Syndrome 2	Cupped ear, Microtia, Conjunctivitis, Alacrima, Hearing impairment	OMIM:620192
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, EEG with generalized slow activity, Tonic seizure, Seizure, Atonic ...	OMIM:618367
Familial Dysautonomia	Alacrima, Seizure, Ataxia, Gait disturbance	ORPHA:1764
Vici Syndrome	Sensorineural hearing impairment, Chronic mucocutaneous candidiasis, Seizure, Low-set ears, Abnor...	OMIM:242840
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, R...	ORPHA:2203
Eec Syndrome	Lacrimation abnormality, Keratitis, External ear malformation, Sensorineural hearing impairment, ...	ORPHA:1896
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Tremor, Seizure, Recurrent o...	OMIM:619680
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Porphyria Variegata	Tachycardia, Hypertension, Seizure, Respiratory paralysis, Tetraparesis	ORPHA:79473
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Ataxia, Pneumonia, Pustule, Hemiparesis, Seizure, Abnormal hypothalamus morphology, In...	ORPHA:68
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Ataxia, Tremor, Dilated cardiomyopathy, Concentric hypertrophic c...	OMIM:610505
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Tremor, Clonic seizure, Spastic tetraplegia, Seizure, Limb ...	OMIM:615574
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Infantile spasms, Seizure, Athetosis, Hyperkinetic movements, Spasticity	OMIM:612073
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Lacrimation abnormality, Clonus, Cheilitis, Protruding ear, Ar...	ORPHA:534
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Trisomy 8P	Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of the tragus, Seizure, Conductive he...	ORPHA:264450
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Muckle-Wells Syndrome	Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Progr...	ORPHA:575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Cardiomyopathy, Arrhythmia, Seizure	ORPHA:228308
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Generalized-onset seizure, Posteriorly rotated ears, Rigidity, Babi...	OMIM:617527
Pgm3-Cdg	Ataxia, Seizure, Vasculitis in the skin, Myoclonus, Cortical myoclonus	ORPHA:443811
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Posteriorly rotated ears, Hydrocephalus, Tetraplegia, Seizure, Lo...	OMIM:257300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tremor, Inability to walk, Babinski sign, Tongue tremor, Atopic dermatitis, Diaphragmatic paralys...	ORPHA:466768
Gaucher Disease	Osteomyelitis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hemiplegia/hemiparesis, Hydrocepha...	ORPHA:355
Carcinoid Syndrome	Epiphora	ORPHA:100093
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus, Hypertrophic cardiomyopathy	ORPHA:17
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Hydrocephalus, Seizure, Holoprosencephaly, Agenesis ...	OMIM:253800
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Diaphragmatic para...	OMIM:232300
Listeriosis	Pericarditis, Ataxia, Tremor, Myocarditis, Congestive heart failure, Hemiparesis, Seizure, Arteri...	ORPHA:533
Farber Disease	Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity	ORPHA:333
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Leukodystrophy, Hypomyelinating, 10	Seizure, Spasticity, Babinski sign, Hyperkinetic movements	OMIM:616420
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ...	ORPHA:521426
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
X Small Rings	Seizure, Mitral stenosis, Bilateral tonic-clonic seizure	ORPHA:96201
Weaver Syndrome	Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin...	OMIM:277590
Nasopalpebral Lipoma-Coloboma Syndrome	Abnormality of cartilage of external ear, Epiphora, Cupped ear, Low-set ears	ORPHA:2399
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral tonic-clonic seizure, Hypovolemia, Apraxia, Generalized myoclonic seizure	ORPHA:99885
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Sensorineural hearing impairment, Alacrima	OMIM:608088
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements	OMIM:617302
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Seizure, Sinus bradycardia	OMIM:619482
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Chorea, Reduced left ventricular ejection fraction	ORPHA:268
Immunodeficiency 87 And Autoimmunity	Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp...	OMIM:619573
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord...	ORPHA:99956
48,Xxxy Syndrome	Tremor, Seizure, Abnormal social behavior, Chronic otitis media	ORPHA:96263
Frontonasal Dysplasia 2	Encephalocele, Low-set ears, Decreased lacrimation	OMIM:613451
Contractures-Developmental Delay-Pierre Robin Syndrome	Focal-onset seizure, Abnormal hippocampus morphology, Microtia, Overfolded helix, Lop ear	ORPHA:436003
9P13 Microdeletion Syndrome	Myoclonus, Hand tremor	ORPHA:324313
Cholera	Seizure, Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Williams Syndrome	Low-set, posteriorly rotated ears, Ataxia, Lacrimation abnormality, Involuntary movements, Tremor...	ORPHA:904
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Tremor, Congestive heart failure, Hypertension, Seizure, Palpitation...	ORPHA:91347
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc...	ORPHA:447997
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Posteriorly rotated ears, Tonic seizure, Aqueductal stenosis, Hyd...	OMIM:619512
Stuve-Wiedemann Syndrome 1	Seizure, Low-set ears, Decreased lacrimation	OMIM:601559
Severe Generalized Junctional Epidermolysis Bullosa	Seizure, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Tularemia	Tachycardia	ORPHA:3392
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Hypert...	OMIM:619124
Leigh Syndrome	Ataxia, Involuntary movements, Infantile spasms, Congestive heart failure, Chorea, Spastic dipleg...	ORPHA:506
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure, Spina bifida, Recurrent pneumonia, Choreoathetosis, Low-set ears	OMIM:234100
Fructose-1,6-Bisphosphatase Deficiency	Seizure, Tachycardia	ORPHA:348
Holoprosencephaly 14	Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Par...	OMIM:619895
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Low-set ears, ...	ORPHA:1454
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Ataxia, Alacrima, Hearing impairment	OMIM:615510
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Mixed hearing impairment, Cupped ear, Conjunctivitis, Low-set ears, Alacrima	OMIM:615560
Fg Syndrome Type 1	Broad-based gait, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Seizure, Microtia,...	ORPHA:93932
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Bilateral tonic-clonic seizure, G...	ORPHA:457359
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms	OMIM:252150
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Impaired social interactions, Dystonia, Spasticity	ORPHA:2828
Pitt-Hopkins Syndrome	Incoordination, Hypoplastic hippocampus, Cupped ear, Gait ataxia, Seizure, Thickened helices	OMIM:610954
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Seizure, Epileptic spasm, Infantile spasms	OMIM:191100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra...	OMIM:203700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ...	ORPHA:369837
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Involuntary movements, Choreoathetosis, Hypertension, Myoclonic spasms, Hy...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures	ORPHA:79444
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Acute Intermittent Porphyria	Tachycardia, Tremor, Hypertension, Seizure, Pseudobulbar paralysis, Respiratory paralysis	ORPHA:79276
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ...	OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Protruding ear...	ORPHA:268261
Charge Syndrome	Low-set, posteriorly rotated ears, Lacrimation abnormality, Aqueductal stenosis, External ear mal...	ORPHA:138
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Seizu...	OMIM:301040
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Ataxia, Photosensitive tonic-clonic seizure, Seizure, Hyperkinetic movements, Truncal ataxia	OMIM:300243
Mitochondrial Complex I Deficiency, Nuclear Type 1	Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Concentric hypertrophic cardiomyopathy, Sp...	OMIM:252010
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Supranuclear Palsy, Progressive, 1	Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine...	OMIM:601104
Cogan Syndrome	Episcleritis, Keratitis, Sensorineural hearing impairment, Uveitis, Scleritis, Conjunctivitis, In...	ORPHA:1467
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D...	OMIM:612199
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Alacrima, Multifocal seizures, Uplifted earlobe, Myoclonic seizure	OMIM:618548
Achalasia-Addisonianism-Alacrima Syndrome	Babinski sign, Ataxia, Alacrima	OMIM:231550
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Posteriorly rotated ears, Sensorineural hearing impairment, Poor ...	ORPHA:466943
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Lacrimoauriculodentodigital Syndrome 3	Cupped ear, Microtia, Alacrima, Hearing impairment	OMIM:620193
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Intellectual Disability-Alacrima-Achalasia Syndrome	Delayed early-childhood social milestone development, Alacrima	ORPHA:289483
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Seizure, Gliosis, Low-set ears, Hearing impairment	OMIM:261515
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ataxia, Bilateral tonic-clonic seizure, Anteverted ears, Inability to walk, Focal-onset seizure, ...	ORPHA:459070
Cinca Syndrome	Retrobulbar optic neuritis, Sensorineural hearing impairment, Uveitis, Inflammatory abnormality o...	ORPHA:1451
Poliomyelitis	Paralysis, Paraparesis, Hypertension, Hypovolemic shock, Hyperkinetic movements, Fasciculations, ...	ORPHA:2912
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Hypertonia, Clonus, Low-set ears	OMIM:617301
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear...	ORPHA:2363
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Sensorineural hearing impairment, Seizure, Impaired social interactions, Infectious encephalitis,...	ORPHA:293987
Webb-Dattani Syndrome	Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Abnorm...	ORPHA:513456
Hydranencephaly	Hypoplastic hippocampus, Spastic diplegia, Opisthotonus, Seizure, Infantile sensorineural hearing...	ORPHA:2177
Lathosterolosis	Seizure, Myoclonus	ORPHA:46059
Hartsfield Syndrome	Bilateral tonic-clonic seizure, Posteriorly rotated ears, Alobar holoprosencephaly, Lobar holopro...	OMIM:615465
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Kilquist Syndrome	Alacrima, Bilateral sensorineural hearing impairment, Low-set ears	OMIM:619080
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Seizure, Epileptic spasm, Infantile spasms	OMIM:613254
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Uplifted earlobe, Myoclonic seizure, Gait ataxi...	OMIM:280000
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Pulmonic stenosis	ORPHA:3426
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Incoordination, Tachycardia	OMIM:223900
Dyskeratosis Congenita, Autosomal Recessive 1	Epiphora	OMIM:224230
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, ...	OMIM:301044
Schinzel-Giedion Syndrome	Epileptic spasm, Abnormality of the stapes, Recurrent pneumonia, Vocal cord paralysis, Neural tub...	ORPHA:798
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Focal motor seizure, Seizure, Large earlobe, Hypertonia, Febrile seizure (with...	ORPHA:1675
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Sensorineural hearing im...	ORPHA:728
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis	OMIM:617044
Aicardi-Goutières Syndrome	Myositis, Extrapyramidal muscular rigidity, Chilblains, Tremor, Hemiplegia/hemiparesis, Abnormal ...	ORPHA:51
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Lymphoproliferative Syndrome 2	Recurrent pneumonia, EBV encephalitis, Uveitis	OMIM:615122
Cerebrotendinous Xanthomatosis	Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal sign, Spasti...	ORPHA:909
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Bilateral tonic-clonic seizure, Eczema, Posteriorly rotated ears, Recurrent pne...	OMIM:620330
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Cerebral hemorrhage, Focal-onset seizu...	ORPHA:2495
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar...	OMIM:614921
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile seizure, Typical absence...	ORPHA:466950
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Seizure, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:619343
Incontinentia Pigmenti	Skin rash, Keratitis, Hemiplegia/hemiparesis, Uveitis, Seizure, Gait disturbance, Spasticity, Spi...	ORPHA:464
X-Linked Intellectual Disability, Snyder Type	Generalized myoclonic seizure, Involuntary movements, Focal motor seizure, Myoclonus	ORPHA:3063
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Sialuria	Seizure, Hyperkinetic movements	ORPHA:3166
Friedreich Ataxia 2	Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Babinski sign, Concentric hypertr...	OMIM:601992
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Deeah Syndrome	Alacrima, Seizure, Low-set ears, Hearing impairment	OMIM:619004
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Seizure, Alacrima	OMIM:619005
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Bronchiectasis, Uveitis	OMIM:612387
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine, Epiphora	OMIM:181000
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Keratoconjunctivitis sicca, Thyroiditis, Uveitis	OMIM:617388
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia	ORPHA:71273
Localized Scleroderma	Fasciitis, Uveitis, Arthritis, Seizure, Focal impaired awareness seizure, Esophagitis, Hashimoto ...	ORPHA:90289
Dyskeratosis Congenita, X-Linked	Epiphora, Ataxia, Conjunctivitis, Blepharitis	OMIM:305000
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Knee osteoarthritis, Oligoarthritis, Uveitis	ORPHA:85410
Benign Schwannoma	Allodynia, Abnormality of peripheral nervous system electrophysiology	ORPHA:252164
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Epileptic spasm, Involuntary movements, Inability...	ORPHA:438213
Dyskeratosis Congenita, Digenic	Epiphora	OMIM:620040
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ...	OMIM:186580
Oculodentodigital Dysplasia	Abnormal pinna morphology, Ataxia, Paraparesis, Uveitis, Seizure, Tetraparesis, Conductive hearin...	OMIM:164200
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Generalized-onset seizure, Eczema, Spina bifida, Hearing impairment, Focal hemicl...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Generalized-onset seizure, Eczema, Spina bifida, Hearing impairment, Focal hemicl...	ORPHA:363958
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Joubert Syndrome 1	Oculomotor apraxia, Hemifacial spasm, Ataxia	OMIM:213300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Seizure, Myoclonus, Tetraplegia	OMIM:618278
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:284339
Oliver Syndrome	Small earlobe, Bilateral tonic-clonic seizure, Absent earlobe	ORPHA:2920
Transketolase Deficiency	Seborrheic dermatitis, Conjunctivitis, Uveitis, Hearing impairment	ORPHA:488618
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements	ORPHA:93958
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension	ORPHA:36234
Scimitar Syndrome	Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension	ORPHA:185
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Febr...	ORPHA:810
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima	OMIM:300858
Alacrima, Congenital, Autosomal Dominant	Alacrima, Decreased lacrimation	OMIM:103420
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Seizure, Hemiparesis	ORPHA:369950
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc...	ORPHA:31204
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Mend Syndrome	Abnormal auditory evoked potentials, Hydrocephalus, Seizure, Low-set ears, Abnormal social behavi...	ORPHA:401973
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Tremor, Sensorineural hearing impairment, Generalized non-motor (...	OMIM:612474
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Rift Valley Fever	Skin rash, Paralysis, Paraparesis, Hepatitis, Uveitis, Hemiparesis, Decerebrate rigidity, Infecti...	ORPHA:319251
Isolated Congenital Alacrima	Keratitis, Conjunctivitis, Alacrima	ORPHA:91416
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct...	ORPHA:32960
Apert Syndrome	Abnormal morphology of the limbic system, Acne, Chronic otitis media, Agenesis of corpus callosum...	OMIM:101200
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Hi...	ORPHA:85408
Stüve-Wiedemann Syndrome	Lacrimation abnormality	ORPHA:3206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a...	ORPHA:505248
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy	ORPHA:175
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Conjunctivitis, Chronic otitis media	OMIM:608710
Tick-Borne Encephalitis	Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure...	ORPHA:297
Antiphospholipid Syndrome, Familial	Keratitis, Scleritis, Iritis	OMIM:107320
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Persistent Hyperplastic Primary Vitreous	Epiphora	ORPHA:91495
Prader-Willi Syndrome Due To Translocation	Seizure, Lateral ventricle dilatation, Abnormal social behavior, Impaired social interactions	ORPHA:177907
Incontinentia Pigmenti	Maculopapular exanthema, Keratitis, Uveitis, Seizure, Spasticity	OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Seizure, Spasticity, Myoclonus	OMIM:253280
Juvenile Xanthogranuloma	Iritis, Blepharitis, Uveitis	ORPHA:158000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Gastroin...	ORPHA:95455
Doors Syndrome	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclonus, Aspiration pneumonia...	ORPHA:79500
Helix Syndrome	Alacrima	OMIM:617671
Sotos Syndrome	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Conductive hearing impairm...	ORPHA:821
Episodic Ataxia Type 1	Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia	ORPHA:37612
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Posteriorly rotated ears, Uplifted earlobe, Inability to walk, Focal-on...	ORPHA:2152
Kabuki Syndrome 1	Posteriorly rotated ears, Bilateral tonic-clonic seizure with focal onset, Hydrocephalus, Protrud...	OMIM:147920
Tuberous Sclerosis Complex	Epileptic spasm, Infantile spasms, Focal-onset seizure, Noncommunicating hydrocephalus, Seizure, ...	ORPHA:805
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Seizure, Colitis, Pann...	ORPHA:3261
Orofaciodigital Syndrome Type 2	Conductive hearing impairment, Bilateral tonic-clonic seizure, Protruding ear	ORPHA:2751
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Eczema, Keratitis, Cheilitis, Uveitis, Scleritis, Seizure, Agenesis of corpus callo...	ORPHA:2273
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy	ORPHA:522077
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Low-set ears, Decreased lacrimation	ORPHA:572333
Amoebic Keratitis	Scleritis, Anterior uveitis	ORPHA:67043
Mowat-Wilson Syndrome	Uplifted earlobe, Abnormal hippocampus morphology, Cupped ear, Large earlobe, Seizure, Recurrent ...	OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Inability to walk, Focal-onset seiz...	ORPHA:261537
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal pyramidal sign, Seizure, Hypertonia, Hyperkinetic movements, Spasticity	ORPHA:468631
Bloom Syndrome	Skin rash, Pneumonia, Cheilitis, Uveitis, Rhinitis, Otitis media	ORPHA:125
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,...	ORPHA:797
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Inability to walk, Focal-onset seiz...	ORPHA:261552
Smith-Lemli-Opitz Syndrome	Hypertension, Seizure, Hypertonia, Hypertrophic cardiomyopathy, Ventricular fibrillation	OMIM:270400
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter...	ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Tubuloint...	ORPHA:91500
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Plague	Tachycardia, Hematemesis, Slurred speech, Hypotension, Arrhythmia	ORPHA:707
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Seizure, Microtia, Low-set ears, Small ea...	OMIM:619522
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis	ORPHA:3384
Primary Sclerosing Cholangitis	Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pancreatitis	ORPHA:171
Hepatoerythropoietic Porphyria	Scleritis, Recurrent bacterial skin infections, Seborrhoeic blepharitis, Keratoconjunctivitis	ORPHA:95159
Stickler Syndrome	Hemiplegia/hemiparesis, Sensorineural hearing impairment, Osteoarthritis, Uveitis, Chronic otitis...	ORPHA:828
Degcags Syndrome	Pulmonary arterial hypertension, Tachycardia, Vocal cord paralysis, Pulmonic stenosis	OMIM:619488
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Cupped ear, Microtia, Conjunctivitis, Alacrima, Hearing impairment	OMIM:149730
Leprosy	Steppage gait, Iritis, Uveitis	ORPHA:548
Hallermann-Streiff Syndrome	Uveitis	ORPHA:2108
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Uveitis	OMIM:221900
Congenital Erythropoietic Porphyria	Scleritis, Recurrent bacterial skin infections, Seborrhoeic blepharitis, Keratoconjunctivitis	ORPHA:79277
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail...	ORPHA:99125
Retinoblastoma	Uveitis	ORPHA:790

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kcna1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcna1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Adaptor Protein CD2AP and L-type Lectin LMAN2 Regulate Exosome Cargo Protein Trafficking through the Golgi Complex.	The Journal of biological chemistry (October 2016)	Kcna10^em2(IMPC)Mbp	PMC5207247

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kcna1^{tm456843(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kcna1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Kcna1^{tm236280(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Kcna1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Kcna1 MGI:96654

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

X-ray

Human diseases caused by Kcna1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data