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, Shak, mceph, 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
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)
Bone marrow	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	50% (1 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	100% (2 of 2)
Diaphragm	N/A	heterozygote	100% (2 of 2)
Duodenum	N/A	heterozygote	50% (1 of 2)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	50% (1 of 2)
Harderian gland	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	100% (2 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	50% (1 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	50% (1 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	Not available
Parotid gland	N/A	heterozygote	100% (2 of 2)
Penis	N/A	heterozygote	50% (1 of 2)
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
Quadriceps	N/A	heterozygote	100% (2 of 2)
Sciatic nerve	N/A	heterozygote	100% (2 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	100% (2 of 2)
Submandibular gland	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	50% (1 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Tongue	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Trigeminal V nerve	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vagina	N/A	heterozygote	Not available
Vas deferens	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	50% (1 of 2)
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 (1686 diseases)

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

Disease	Matching phenotypes	Source
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
Hereditary Continuous Muscle Fiber Activity	Spastic gait, Slurred speech, Seizure, Ataxia	ORPHA:972
Early Infantile Epileptic Encephalopathy	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:1934
Episodic Ataxia Type 1	Tip-toe gait, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis	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	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Seizure, Paroxysmal atrial fib...	OMIM:604772
Long Qt Syndrome 15	Ventricular bigeminy, Seizure, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Pre...	OMIM:616249
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia	ORPHA:1182
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Myoclonic seizure, Bradycardia	OMIM:619521
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Seizure, Syncope, Ventricular tachycardia, Bradycardia, Polymorphic ventricular tachycardia	OMIM:611938
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Angelman syndrome (Type 2)	Truncal ataxia, Seizure	DECIPHER:54
Angelman syndrome (Type 1)	Truncal ataxia, Seizure	DECIPHER:4
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E...	OMIM:615127
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
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:619964
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop...	ORPHA:98765
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p...	OMIM:614561
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1	Spasticity, Seizure, Ataxia	OMIM:604004
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo...	OMIM:613608
Cerebellar Ataxia, Benign, With Thermoanalgesia	Impaired temperature sensation, Progressive cerebellar ataxia	OMIM:212890
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Myasthenic Syndrome, Congenital, 18	Difficulty walking, Fatigable weakness, Ataxia	OMIM:616330
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Megalencephaly With Dysmyelination	Spasticity, Seizure, Ataxia	OMIM:249240
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Spastic tetraparesis, Seizure, Ataxia	OMIM:619061
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Spasticity, Seizure, Ataxia	OMIM:619228
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Isolated Cerebellar Agenesis	Hypertonia, Seizure, Ataxia	ORPHA:1398
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Seizure, Bradycardia	OMIM:617173
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Epilepsy, Familial Temporal Lobe, 5	EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw...	OMIM:614417
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In...	OMIM:615400
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Neuhauser-Eichner-Opitz Syndrome	Spasticity, Rigidity, Hypertonia, Ataxia	ORPHA:2672
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure, Dyst...	OMIM:618425
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,...	ORPHA:725
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia	OMIM:617018
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem...	OMIM:608105
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Apraxia, Seizure, Ataxia	ORPHA:85338
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor	ORPHA:217012
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Dystonia 23	Arrhythmia, Head tremor, Myoclonus, Torticollis	OMIM:614860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Spinocerebellar Ataxia 37	Unsteady gait, Frequent falls, Tremor, Ataxia	OMIM:615945
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera...	OMIM:615006
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar...	OMIM:617389
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor	ORPHA:94122
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,...	OMIM:605021
Developmental And Epileptic Encephalopathy 104	Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate...	OMIM:619970
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor	ORPHA:423296
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Poor fine motor coordination, Seizure, Bradycardia	OMIM:617182
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn...	OMIM:613697
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks, Bradycardia	ORPHA:2898
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Myasthenic Syndrome, Congenital, 15	Difficulty walking, Frequent falls, Fatigable weakness	OMIM:616227
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Myoclonus, Cardiomyopathy, Frequent falls	OMIM:619647
Stxbp1-Related Encephalopathy	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr...	ORPHA:599373
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Seizure, Myoclonus, Opisthotonus, Bradycardia	OMIM:619814
Romano-Ward Syndrome	Seizure, Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia,...	ORPHA:101016
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen...	OMIM:254770
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Paroxysmal Exertion-Induced Dyskinesia	Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Low...	ORPHA:98811
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Epilepsy, Progressive Myoclonic, 6	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T...	OMIM:614018
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Developmental And Epileptic Encephalopathy 60	Myoclonic seizure, Focal impaired awareness seizure, Seizure, Hippocampal malrotation, Inability ...	OMIM:617929
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins...	OMIM:619565
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:162350
Sudden Cardiac Failure, Infantile	Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden ...	OMIM:617222
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure	OMIM:614115
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613722
Autosomal Spastic Paraplegia Type 30	Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ...	ORPHA:101010
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli...	OMIM:616421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spasticity, Seizure, Impaired distal proprioception, Babinski sign, Ataxia, Spastic gait, Frequen...	OMIM:619742
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Spinocerebellar Ataxia Type 37	Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di...	ORPHA:363710
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Maple Syrup Urine Disease	Hemiplegia/hemiparesis, Seizure, Ataxia	ORPHA:511
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,...	OMIM:245570
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,...	OMIM:618141
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit...	OMIM:117100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:616056
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Developmental And Epileptic Encephalopathy 27	Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater...	OMIM:616139
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Migraine, Familial Hemiplegic, 1	Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Alternating Hemiplegia Of Childhood 2	Seizure, Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Status epilepticus, Ch...	OMIM:614820
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata...	ORPHA:95434
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Seizure, Cardiomyopathy, Premature ventricular contraction, ...	OMIM:212138
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor...	OMIM:617391
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac...	OMIM:612158
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric...	OMIM:310300
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur...	ORPHA:98820
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Seizure, Bradycardia	OMIM:609924
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu...	ORPHA:163721
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Fre...	OMIM:616540
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor, Bilateral tonic-clonic seizure	OMIM:617863
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic...	OMIM:266100
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy, Complex febrile seizure, Seizure precipitated by febrile infection, Sta...	ORPHA:363549
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potentials	OMIM:616321
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Se...	ORPHA:37553
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins...	OMIM:613908
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se...	OMIM:600669
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
Spinocerebellar Ataxia 41	Unsteady gait, Gait ataxia, Ataxia	OMIM:616410
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Seizure, Ataxia	ORPHA:404493
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Intellectual Developmental Disorder, Autosomal Dominant 5	Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis	OMIM:612621
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure...	OMIM:616346
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor	ORPHA:86814
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra...	OMIM:607317
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot...	OMIM:204300
Dravet Syndrome	Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz...	OMIM:607208
Epilepsy, Progressive Myoclonic, 11	Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T...	ORPHA:276193
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Cardiomyopathy	OMIM:619651
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu...	OMIM:619157
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Myoclonus-Dystonia Syndrome	Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus	ORPHA:36899
Spinocerebellar Ataxia, Autosomal Recessive 25	Truncal ataxia, Babinski sign, Dysmetria, Ataxia	OMIM:617584
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid...	ORPHA:139426
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre...	OMIM:617665
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617171
Developmental And Epileptic Encephalopathy 42	Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Focal t...	OMIM:617106
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, Myoclonus, Limb hypertonia	ORPHA:324588
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Autosomal Spastic Paraplegia Type 72	Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity	ORPHA:401849
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Seizure, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR in...	ORPHA:542306
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys...	OMIM:254800
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Developmental And Epileptic Encephalopathy 37	Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti...	OMIM:616981
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s...	OMIM:615362
Myoclonus, Familial, 2	Limb myoclonus, Seizure	OMIM:618364
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t...	OMIM:616409
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas...	OMIM:619000
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Seizure, Reduced social reciprocity, Bilateral tonic...	OMIM:608636
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Bradycardia, Cardiac arr...	OMIM:618235
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Spinocerebellar Ataxia, Autosomal Recessive 22	Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,...	OMIM:616948
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab...	OMIM:610245
Developmental And Epileptic Encephalopathy 59	Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei...	OMIM:617904
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Infantile Convulsions And Choreoathetosis	Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai...	ORPHA:31709
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,...	ORPHA:423275
Episodic Ataxia, Type 9	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Dystonia, Status epilepticus	OMIM:618924
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si...	OMIM:600363
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Delayed early-childhood social miles...	OMIM:618090
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c...	ORPHA:98763
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic...	ORPHA:53583
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int...	ORPHA:314978
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency	Limb ataxia, Gait ataxia, Seizure	ORPHA:404499
Developmental And Epileptic Encephalopathy 97	Inability to walk, Epileptic spasm, Tremor, Seizure	OMIM:619561
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Tremor	OMIM:614369
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Tremor, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Br...	OMIM:617836
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo...	OMIM:607631
Jervell And Lange-Nielsen Syndrome	Seizure, Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Palpitations, B...	ORPHA:66529
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait	OMIM:615768
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Glycogen Storage Disease 0, Muscle	Cardiomyopathy, Bilateral tonic-clonic seizure	OMIM:611556
Lennox-Gastaut Syndrome	EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a...	ORPHA:2382
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Developmental And Epileptic Encephalopathy 98	EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B...	OMIM:619605
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca...	OMIM:607745
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ...	OMIM:606703
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Sinus tachycardia, Infantile spasms, Premature ventricular contrac...	OMIM:620504
Epilepsy With Eyelid Myoclonia	Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei...	ORPHA:139431
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms...	OMIM:614498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Myoclonus, Seizure, Ataxia	OMIM:600143
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure	OMIM:616341
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, High-frequency sensorineural hearing impairment, Seizure...	ORPHA:2590
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn...	ORPHA:98762
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Partial agenesis of the corpus callosum, Infantile spasms, Focal-onset seizure...	OMIM:619302
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus callosum, Delayed ea...	OMIM:619301
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei...	ORPHA:101071
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atonic seizu...	OMIM:617113
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611364
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Developmental And Epileptic Encephalopathy 24	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	OMIM:615871
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Spinocerebellar Ataxia, Autosomal Recessive 15	Unsteady gait, Gait ataxia, Seizure, Ataxia	OMIM:615705
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Diff...	ORPHA:330050
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Basal Ganglia Calcification, Idiopathic, 1	Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sig...	OMIM:213600
Diaminopentanuria	Spasticity, Seizure, Ataxia	OMIM:222350
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia	OMIM:619191
Landau-Kleffner Syndrome	EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz...	ORPHA:98818
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Seizure, Bradycardia	OMIM:616276
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impair...	OMIM:300423
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Tremor, Fasciculations	OMIM:615048
Myoclonic Epilepsy Of Infancy	Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb...	ORPHA:86909
Epilepsy, Progressive Myoclonic, 8	Myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Action myoclonus, C...	OMIM:616230
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu...	ORPHA:454887
Alternating Hemiplegia Of Childhood 1	Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Supravalvular aortic stenosis, Tonic seizure, Bilateral tonic-clonic...	OMIM:615859
Mitochondrial Complex I Deficiency, Nuclear Type 12	Progressive sensorineural hearing impairment, Seizure, Gait imbalance, Myoclonus, Bilateral tonic...	OMIM:301020
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave...	ORPHA:98909
Dystonia 22, Juvenile-Onset	Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, B...	OMIM:620453
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor...	OMIM:612736
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Difficulty walking, Dysmetria, Clumsiness, Babinski sign, Progressi...	ORPHA:284332
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Spasticity, Seizure, Large earlobe, Inability to walk, Dysplastic corpus callosum, Bilateral toni...	OMIM:620317
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Bilateral Generalized Polymicrogyria	Spasticity, Oculogyric crisis, Generalized myoclonic seizure, Lateral ventricle dilatation, Typic...	ORPHA:208447
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ...	OMIM:607876
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure	OMIM:545000
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Benign Familial Neonatal Epilepsy	Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni...	ORPHA:1949
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Kearns-Sayre Syndrome	Third degree atrioventricular block, Hemiplegia/hemiparesis, Ataxia	ORPHA:480
Autosomal Dominant Spastic Paraplegia Type 6	Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc...	ORPHA:100988
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Seizure, Bradycardia	OMIM:618815
Timothy Syndrome	Atrioventricular block, Seizure, Pulmonary arterial hypertension, Ventricular tachycardia, Bradyc...	OMIM:601005
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure	OMIM:611721
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus...	OMIM:609056
Developmental And Epileptic Encephalopathy 52	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ...	OMIM:617350
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu...	OMIM:618093
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Generalized myoclonic seizure, Seizure, Chorea, Abnormality of extrapyramidal motor funct...	ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Concentric hypertrophic cardiomyopathy, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:204200
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Epileptic spasm, My...	OMIM:618497
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Infantile spasms, Tremor, Ataxia	OMIM:278780
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor	OMIM:302500
Dystonia 11, Myoclonic	Myoclonus, Tremor, Torticollis	OMIM:159900
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Generalized-onset seizure, Tricuspid regurgitatio...	OMIM:620066
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Hereditary Continuous Muscle Fiber Activity	Spastic gait, Slurred speech, Seizure, Ataxia	ORPHA:972
Lichtenstein-Knorr Syndrome	Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis	OMIM:616291
Encephalopathy Due To Prosaposin Deficiency	Dystonia, Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a...	OMIM:617810
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Yoon-Bellen Neurodevelopmental Syndrome	Spasticity, Hearing impairment, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizu...	OMIM:619701
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia	OMIM:617829
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Tortico...	ORPHA:71517
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Dystonia,...	OMIM:615528
Leber Hereditary Optic Neuropathy	Postural tremor, Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina...	ORPHA:391411
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Seizure, Chorea, Focal-onset seizure, Dystonia, Ataxia, Poor coordination, Paroxysmal dysk...	OMIM:619150
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Bilateral tonic-clonic seizure	OMIM:619639
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,...	OMIM:611726
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Early Myoclonic Encephalopathy	Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto...	ORPHA:1935
Developmental Delay With Or Without Epilepsy	EEG with frontal focal spikes, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizur...	OMIM:620540
Congenital Myasthenic Syndromes With Glycosylation Defect	Difficulty walking, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness,...	ORPHA:353327
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Myoclonus, Gait ataxia, Focal hemiclonic ...	OMIM:620145
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Benign Familial Neonatal-Infantile Seizures	Continuous spike and waves during slow sleep, Neonatal seizure, Focal clonic seizure, Tonic seizu...	ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochoki...	OMIM:256731
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Brain Small Vessel Disease 2	Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Intracranial hemorrhage, Spastic...	OMIM:614483
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin...	OMIM:619911
Hereditary Geniospasm	Chin myoclonus	ORPHA:53372
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Developmental And Epileptic Encephalopathy 91	Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-cloni...	OMIM:617711
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:726
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Developmental And Epileptic Encephalopathy 34	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s...	OMIM:616645
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Hemiparesis, Arrhythmia, Bilateral tonic-clonic seizure, Wolff-Parkinso...	OMIM:540000
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,...	ORPHA:284324
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Conductive hearing impairment, Seizure, Agenesis of corpus callosum, Hypoplastic hippo...	ORPHA:85179
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic seizure with generaliz...	OMIM:619028
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Spastic paraplegia, Second degree atrioventricular block, Focal myoclonic seizure, Sei...	ORPHA:369929
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure, Broad-based gait, Gait ataxia, Hand tremor	OMIM:617862
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (absence) ...	OMIM:619913
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramidal dyskinesi...	ORPHA:71277
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal ...	ORPHA:352596
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Focal impaired awareness seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Dysto...	OMIM:613970
Developmental And Epileptic Encephalopathy 16	Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil...	OMIM:615338
Hyperekplexia 3	Myoclonus, Syncope, Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response	OMIM:614618
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu...	ORPHA:561854
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia	OMIM:620265
Spinocerebellar Ataxia 11	Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia	OMIM:604432
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Seizure, Hemifacial spasm, Bundle branch block, Congestive h...	ORPHA:466677
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, Conductive hearing impairment, Seizure, Cerebral palsy, Generalized-onset seiz...	OMIM:617976
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di...	OMIM:617145
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, Bilateral tonic-cloni...	OMIM:614322
Developmental And Epileptic Encephalopathy 69	Hyperkinetic movements, Spastic tetraplegia, Myoclonus, Status epilepticus	OMIM:618285
Dystonia 16	Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,...	ORPHA:210571
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Seizure, Ataxia	OMIM:204500
Coenzyme Q10 Deficiency, Primary, 5	Hypertonia, Seizure, Bradycardia	OMIM:614654
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Truncal ataxia, Atrioventricular block, Intention tremor, Bradycardia	OMIM:614407
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:67047
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absenc...	ORPHA:79137
Unilateral Focal Polymicrogyria	EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral...	ORPHA:268947
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Seizure, Myoclonus, Limb tremor, Hypertonia, Focal tonic seizure	OMIM:300699
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso...	ORPHA:314632
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Difficulty walki...	ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor	OMIM:615386
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Truncal ataxia, ...	ORPHA:453521
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Paroxysmal cho...	OMIM:500003
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Spastic Paraparesis And Deafness	Spastic paraparesis, Hearing impairment, Tremor	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 10	Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor	OMIM:613728
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Ataxia	OMIM:618951
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	EEG abnormality, Convulsive status epilepticus, Dystonia, Focal-onset seizure	OMIM:618760
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Seizure, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia,...	OMIM:618088
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Myoclonic seizure, Second degree atrioventricular block, Cerebral palsy, Pulmonary ar...	OMIM:615474
Atrial Septal Defect, Ostium Primum Type	Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ...	ORPHA:99106
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, E...	OMIM:609446
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Choreoathetosis	OMIM:617065
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Hemidystonia, Fo...	ORPHA:1929
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Abnormal posturing, Tip-toe gait, Aspiration pneumonia, Inability to walk, Generalize...	ORPHA:216866
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware...	ORPHA:208441
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia	OMIM:619065
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress...	OMIM:607346
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Seizure, Holosystolic mur...	ORPHA:1677
Congenital Myopathy 24	First degree atrioventricular block, Cardiomyopathy	OMIM:617336
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis	OMIM:123400
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Seizure, Limb dysmetria, Gait ataxia, Dysmetria, Dysdiadochokinesis	ORPHA:324262
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Intention tre...	OMIM:117360
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Orthostatic h...	ORPHA:97355
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
D-Glyceric Aciduria	Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticit...	OMIM:220120
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Seizure, Hemipl...	ORPHA:225147
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia	OMIM:620221
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Seizure, Epileptic spasm, Myoclonus, Ataxia, Erratic myoclonus, Spastic tetraplegia	OMIM:619971
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p...	ORPHA:352641
Huntington Disease-Like 1	Involuntary movements, Abnormal posturing, Seizure, Incoordination, Chorea, Gait ataxia, Simultan...	ORPHA:157941
Mohr-Tranebjaerg Syndrome	Spasticity, Abnormal posturing, Progressive sensorineural hearing impairment, Tremor, Postlingual...	OMIM:304700
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Nipah Virus Disease	Tremor, Hypotension, Myoclonus, Seizure	ORPHA:99825
Spinocerebellar Ataxia, Autosomal Recessive 13	Seizure, Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysd...	OMIM:614831
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens...	OMIM:617225
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Positive Romberg sign, Gait ataxia, Babinski sign, Gait disturbance, Gait instabi...	OMIM:608984
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Seizure, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia	OMIM:618501
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Spastic tetraplegia, Bilateral tonic-clonic seizure, Neonatal death	OMIM:618237
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Developmental And Epileptic Encephalopathy 4	Generalized myoclonic seizure, Epileptic spasm, EEG with burst suppression, Tremor, Generalized t...	OMIM:612164
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, Tremor, Ataxia, Status e...	OMIM:614307
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action...	ORPHA:101
Combined Oxidative Phosphorylation Defect Type 27	Upper limb postural tremor, Involuntary movements, Hearing impairment, Tetraparesis, Hypoplastic ...	ORPHA:477774
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Lissencephaly 3	Seizure, Agenesis of corpus callosum, Generalized tonic seizure, Bilateral tonic-clonic seizure, ...	OMIM:611603
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Bi...	OMIM:617600
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr...	OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait	OMIM:213200
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Ankle clonus, Dystonia, Babi...	OMIM:607565
Oxoglutarate Dehydrogenase Deficiency	Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia	OMIM:203740
Myotonic Dystrophy 2	Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block	OMIM:602668
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata...	OMIM:600116
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Spasticity, Bradycardia	OMIM:616277
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Sarcosinemia	Tetraparesis, Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Ataxia, Pulmonic stenosis	ORPHA:3129
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton...	OMIM:618856
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl...	ORPHA:293181
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Seizure, Atonic seizure	OMIM:309530
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Pontocerebellar Hypoplasia Type 4	Hypertonia, Myoclonus, Seizure	ORPHA:166063
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged...	OMIM:614049
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Dystonia 6, Torsion	Myoclonus, Torticollis	OMIM:602629
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Glut1 Deficiency Syndrome 2	Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb...	OMIM:617935
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Episodic Ataxia Type 3	Hemiplegia, Seizure, Episodic ataxia	ORPHA:79135
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu...	ORPHA:240103
Optic Atrophy 3, Autosomal Dominant	Hearing impairment, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Dk1-Cdg	Dilated cardiomyopathy, Seizure, Congestive heart failure, Infantile spasms, Arrhythmia, Bilatera...	ORPHA:91131
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Spasticity, Seizure, Episodic ataxia, Difficulty walking, Gait ataxia, Intention tremor, Lower li...	OMIM:614458
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei...	OMIM:610539
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Apr...	ORPHA:93952
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Muscular Dystrophy, Becker Type	Arrhythmia, Cardiomyopathy, Abnormal EKG	OMIM:300376
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Limb myoclonus, Seizure, Abnormal hippocampus morphology, Focal-onset seizure, Clu...	ORPHA:352582
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ...	OMIM:616127
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Mitochondrial Complex I Deficiency, Nuclear Type 37	Seizure, Opisthotonus, Pulmonary arterial hypertension, Tetraplegia, Hypertonia, Bradycardia, Sta...	OMIM:619272
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Cho...	OMIM:618917
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Spasticity, Seizure, Inability to walk, Reduced social reciprocity, Dystonia	OMIM:617820
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Seizure, Ataxia	OMIM:300983
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, C...	ORPHA:79263
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Hyperekplexia-Epilepsy Syndrome	Generalized tonic seizure, EEG with temporal focal spikes, Focal impaired awareness seizure, Exag...	ORPHA:163985
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Parkinsonism, Nocturnal seizures,...	OMIM:619725
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, Scissor gait, ...	ORPHA:521406
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Progressive spastic paraplegia, Seizure, Difficulty walking,...	ORPHA:464282
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Hypertonia, Clonic s...	OMIM:617290
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Spasticity, Seizure, Bradycardia	OMIM:614702
Hsd10 Disease	Spastic paraparesis, Hearing impairment, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, ...	ORPHA:391417
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
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
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Myoclonus, Seizure	OMIM:610090
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair...	OMIM:616719
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia, Myoclonus	ORPHA:168593
Spinocerebellar Ataxia 17	Broad-based gait, Seizure, Chorea, Limb ataxia, Myoclonus, Positive Romberg sign, Dysmetria, Rigi...	OMIM:607136
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:226750
Spastic Paraplegia 86, Autosomal Recessive	Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Inability to w...	OMIM:619735
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Spastic Paraplegia 89, Autosomal Recessive	Ataxia, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:620379
Congenital Disorder Of Glycosylation, Type In	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:612015
Hemimegalencephaly	Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic seizure, Focal moto...	ORPHA:99802
Glutathione Synthetase Deficiency	Spastic tetraparesis, Intention tremor, Seizure, Ataxia	OMIM:266130
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Hypertrophic cardiomyopathy, Myoclonus, Rigidity, Athetosis	OMIM:618241
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Myoclonus, Hyperkinetic movement...	OMIM:614254
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz...	OMIM:619616
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, Focal m...	ORPHA:542310
Spinocerebellar Ataxia Type 10	Focal impaired awareness seizure, Dysdiadochokinesis, Generalized-onset seizure, Gait imbalance, ...	ORPHA:98761
Cardiomyopathy, Familial Hypertrophic, 7	Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki...	OMIM:613690
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal...	ORPHA:457205
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ...	ORPHA:477673
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia	OMIM:616812
Phenylketonuria	Tremor, Lower limb spasticity, Seizure, Ataxia	ORPHA:716
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:617082
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, EEG with focal slow activity, Multifocal epileptiform discharges,...	ORPHA:209370
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Lipoyltransferase 1 Deficiency	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Pulmonary arterial hypertensi...	OMIM:616299
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Chronic Inflammatory Demyelinating Polyneuropathy	Falls, Somatic sensory dysfunction, Spontaneous pain sensation, Difficulty walking, Paresthesia, ...	ORPHA:2932
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Bradycardia, Spasticity of pharyngeal muscles, Tachyc...	ORPHA:3299
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to...	OMIM:617493
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus, Seizure	OMIM:610992
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im...	OMIM:619428
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG abnormality,...	OMIM:271980
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:94090
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Seizure, Hypertrophic cardiomyopathy, Myoclonus, Hemiplegia/hemiparesis, Abnormality ...	ORPHA:79279
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi...	OMIM:610185
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Frequent falls, Generalized ...	OMIM:159950
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Abeta Amyloidosis, Iowa Type	Myoclonus, Cerebral hemorrhage	ORPHA:324708
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Distal sensory impairment, Rigidity...	OMIM:606693
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore...	OMIM:620427
Peho-Like Syndrome	Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617507
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Limb dystonia, Tremor, Ataxia	OMIM:620270
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ...	OMIM:254210
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera...	ORPHA:289266
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Myoclonus, Babinski sig...	OMIM:252011
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Seizure, Arrhythmia, Ataxia	OMIM:530000
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Babins...	ORPHA:363654
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Seizure, Arrhythmia, Parkinsonism, Bradycardia	OMIM:609286
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Myoclonus, Seizure	OMIM:225753
Spinocerebellar Ataxia, Autosomal Recessive 26	Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p...	OMIM:617633
Clcn4-Related X-Linked Intellectual Disability Syndrome	Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms...	ORPHA:485350
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, ...	OMIM:618877
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnor...	ORPHA:363400
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Glutamine Deficiency, Congenital	Neonatal death, Seizure, Bradycardia	OMIM:610015
Sandhoff Disease, Infantile Form	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Mitral regurgitation, Bilateral tonic-clonic s...	ORPHA:309155
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori...	ORPHA:398124
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga...	OMIM:616795
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Low-set ears, Abnormal social behavior, Seizure	ORPHA:436151
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Seizure, Congestive heart...	ORPHA:137675
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Infantile Cerebellar-Retinal Degeneration	Sensorineural hearing impairment, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Focal-onset ...	OMIM:614559
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Seizure, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai...	ORPHA:90117
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r...	OMIM:615373
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Generalized non-motor (absence) seizure, Seizure, Dysmetria, Sensorineural...	OMIM:618170
Neuroectodermal Melanolysosomal Disease	Spasticity, Seizure, Tremor, Rigidity, Hypertonia, Ataxia	ORPHA:33445
Glycogen Storage Disease Xv	T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat...	OMIM:613507
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Stiff-Person Syndrome	Frequent falls, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Tachycard...	OMIM:184850
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Generalized myoclonic seizure, Seizure, Abnormal EKG, Incoordination, Infa...	ORPHA:480864
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Leukodystrophy, Hypomyelinating, 6	Spasticity, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Bila...	ORPHA:529665
Cochleosaccular Degeneration-Cataract Syndrome	Seizure, Ataxia	ORPHA:3233
Rolandic Epilepsy	EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave...	ORPHA:1945
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm...	OMIM:618012
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait	ORPHA:306511
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Torticoll...	OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Atypical Rett Syndrome	Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor...	ORPHA:3095
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal ataxia, Slurred speec...	ORPHA:352403
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Developmental And Epileptic Encephalopathy 47	Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizu...	OMIM:617166
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Myoclonus, Limb tremor, Torticollis, Supraventricular arrhythmia	ORPHA:420492
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ...	OMIM:605809
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, Bi...	ORPHA:313772
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyramidal sign, Hypertonia, Spasti...	OMIM:308350
Hyperphenylalaninemia, Bh4-Deficient, A	Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine...	OMIM:261640
Hyperekplexia 4	Hypertonia, Infantile spasms, Myoclonus, Seizure	OMIM:618011
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Developmental And Epileptic Encephalopathy 41	Myoclonic seizure, Epileptic spasm, Status epilepticus without prominent motor symptoms, Generali...	OMIM:617105
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo...	ORPHA:363558
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Myoclonus, Seizure	OMIM:618251
Juvenile Huntington Disease	Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Progressive cerebellar a...	ORPHA:248111
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, ...	OMIM:301058
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dysto...	ORPHA:254881
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Seizure, Cardiomyopathy, Hypertrophic cardiomyopathy, Congestive heart failure, Left...	OMIM:261740
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Seizure, Difficulty walking, Impaired vibration sensation in the l...	ORPHA:137898
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Seizure, Tremor, Hydrocephalus, Spastic tetraparesis	OMIM:619470
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize...	OMIM:619092
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Generalized-onset seizure, EEG abnormality, Seizure, Bilateral tonic-clonic seizure	OMIM:604317
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Abnormal left ventricular function, Cardiomyopathy, Heart block	ORPHA:98912
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slow activity, Abnormal...	ORPHA:168491
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Spinocerebellar Ataxia 44	Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:256730
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Lateral ventricle dilatation, Seizure, Inability to walk, Partial...	ORPHA:79243
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ...	OMIM:619338
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Paroxysmal dystonia, Noctu...	ORPHA:98784
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Alexander Disease	Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor	OMIM:203450
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star...	OMIM:300607
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Seizure, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Bilateral tonic-clon...	ORPHA:488635
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech	ORPHA:3327
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Spasticity, Involuntary movements, Limb hypertonia, Ataxia, Dystonia, Multifocal seizures, Status...	OMIM:615905
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Spasticity, Spastic paraparesis, Focal myoclonic seizure, S...	ORPHA:3208
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Sulfite Oxidase Deficiency, Isolated	Eczematoid dermatitis, Generalized dystonia, Hemiplegia, Hypertonia, Ataxia, Bilateral tonic-clon...	OMIM:272300
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-o...	OMIM:615476
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem...	ORPHA:276198
Glycine Encephalopathy 1	Myoclonus, Seizure	OMIM:605899
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
Severe Canavan Disease	Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seizure, Decerebrat...	ORPHA:314911
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Fasciculations, Astrocytosis, Abnormality of extrapyramidal motor functio...	ORPHA:275864
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Seizure, Clumsiness, Parkinsonism, Bilateral tonic-clonic seizure, Myocl...	ORPHA:79264
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Bilateral tonic-clonic seizur...	ORPHA:457240
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Myoclonus, N...	OMIM:620167
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia, Lower limb spasticity, Abno...	ORPHA:1177
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Vocal cord paraly...	ORPHA:98863
Spinocerebellar Ataxia 4	Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia	OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia, Seizure, Ataxia	OMIM:616949
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Variegate Porphyria	Tachycardia, Paralysis	OMIM:176200
Saccharopinuria	Seizure, Gait ataxia, Tremor, Distal sensory impairment, Spastic diplegia	ORPHA:3124
Hydroa Vacciniforme	Papulovesicular eruption, Epiphora, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der...	ORPHA:330058
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor...	ORPHA:504476
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrap...	ORPHA:13
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou...	ORPHA:423
Myotonic Dystrophy 1	Atrial fibrillation, First degree atrioventricular block, Atrial flutter	OMIM:160900
Glossopharyngeal Neuralgia	Seizure, Syncope, Vocal cord paralysis, Bradycardia, Jaw claudication	ORPHA:221098
Riboflavin Transporter Deficiency	Seizure, Myoclonus, Tremor, Ataxia, Hypertension	ORPHA:97229
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Apraxia, Myoclonus, Seizure	OMIM:618193
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Babinski sign, Hyp...	ORPHA:225154
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li...	OMIM:612067
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy...	ORPHA:98855
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Seizure, Febrile seizure (within the age range of 3 months ...	ORPHA:206443
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Recessive Mitochondrial Ataxia Syndrome	Impaired vibratory sensation, Seizure, Positive Romberg sign, Limb dysmetria, Dysmetria, Abnormal...	ORPHA:94125
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre...	OMIM:210000
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block, Seizure	OMIM:617021
Proximal Myopathy With Extrapyramidal Signs	Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w...	ORPHA:401768
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Myoclonic seizure, Seizure, Cardiomyopathy, Infantile spasms, Tonic seizure...	OMIM:600721
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Br...	ORPHA:306669
Band Heterotopia	Spasticity, Lateral ventricle dilatation, Seizure, Agenesis of corpus callosum, Hypoplastic hippo...	OMIM:600348
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Inappropriate laughter, Tremor, Macrotia, Waddling gait	OMIM:616269
Huntington Disease-Like 3	Spasticity, Seizure, Chorea, Abnormality of extrapyramidal motor function, Dystonia, Abnormal pyr...	OMIM:604802
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonic seizure, Infantile spasms, Myoclonus, Facial telangiectasia, Opisthotonus, ...	OMIM:615851
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines...	ORPHA:98810
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hypertonia, Bilateral tonic-clonic se...	OMIM:620028
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Gait ataxia, Action tremor, Distal sensory impairment	OMIM:180800
Lopes-Maciel-Rodan Syndrome	Spasticity, Seizure, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unstead...	OMIM:617435
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:620094
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to...	OMIM:619881
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Seizure, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxi...	OMIM:607694
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus...	OMIM:183090
Glutathionuria	Eczematoid dermatitis, Action tremor, Tremor, Agenesis of corpus callosum, Dysdiadochokinesis	OMIM:231950
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Periodic hypokalemic paresis, Bidirectional ventricular ectopy, Palpitations, S...	OMIM:170390
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia	OMIM:609260
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Spasticity, Myoclonic seizure, Lateral ventricle dilatation, Reduced amygdala volume, Hypoplastic...	OMIM:619517
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Gait disturbanc...	ORPHA:98759
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Systemic Primary Carnitine Deficiency	Clumsiness, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Spontaneous Periodic Hypothermia	Tremor, Gait disturbance, Seizure, Ataxia	ORPHA:29822
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ambulation, Oculomot...	OMIM:208920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT...	ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia	OMIM:618225
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:274240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Myoclonic seizure, Lateral ventricle dilatation, Seizure, Large earlobe, I...	OMIM:615716
Developmental And Epileptic Encephalopathy 66	Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,...	OMIM:618067
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre...	ORPHA:1686
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Seizure, Tricuspid regurgitation, Left ventricular systolic dysfunction, ...	OMIM:619167
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait	OMIM:615031
4H Leukodystrophy	Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia...	ORPHA:289494
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Seizure, Abnormality of extrapyramidal motor function	OMIM:604218
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Alzheimer Disease 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxi...	OMIM:607822
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis, Fatigable weakness	OMIM:614198
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Myoclonus, Clonic seizure	OMIM:617235
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory impairment, Dysmetr...	OMIM:302800
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Congenital Disorder Of Glycosylation, Type Iibb	Low-set ears, Spasticity, Myoclonic seizure, Tetraparesis, Antalgic gait, Tremor, Tonic seizure, ...	OMIM:620546
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Combined Oxidative Phosphorylation Defect Type 39	Involuntary movements, Seizure, Ankle clonus, Babinski sign, Lower limb spasticity, Limb hyperton...	ORPHA:565624
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp...	OMIM:616281
Familial Congenital Mirror Movements	Dysgenesis of the hippocampus, Cerebral palsy, Agenesis of corpus callosum, Clumsiness, Poor fine...	ORPHA:238722
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Developmental And Epileptic Encephalopathy 28	Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali...	OMIM:616211
Serotonin Syndrome	Hypotension, Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Tachycardia, Hypertension	ORPHA:43116
Blepharonasofacial Malformation Syndrome	Torsion dystonia, Abnormal pinna morphology, Hearing impairment, Lacrimation abnormality	ORPHA:1252
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spasticity, Spastic...	ORPHA:401866
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia	OMIM:606438
Developmental And Epileptic Encephalopathy 79	Migrating focal seizure, Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure w...	OMIM:618559
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo...	ORPHA:98772
Secondary Syringomyelia	Facial paralysis, Somatic sensory dysfunction, Seizure, Pseudobulbar paralysis, Difficulty walkin...	ORPHA:99857
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Osteomyelitis, Overfriend...	OMIM:618010
Myasthenic Syndrome, Congenital, 5	Fatigable weakness, Prolonged miniature endplate currents	OMIM:603034
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb sp...	OMIM:618598
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	ORPHA:329284
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni...	OMIM:602481
Developmental And Epileptic Encephalopathy 68	Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus	OMIM:618201
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Crigler-Najjar Syndrome Type 1	Seizure, Hearing impairment, Tremor	ORPHA:79234
Chondroectodermal Dysplasia With Night Blindness	Difficulty walking, Epiphora, Gait disturbance, Otitis media	ORPHA:319195
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Exaggerated startle response, Bradycardia	OMIM:608800
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Seizure, Tricuspid regurgitation, Mitral regurgitation, Neon...	OMIM:620300
Autoimmune Hypoparathyroidism	Prolonged QT interval, Myoclonic spasms, Ventricular arrhythmia, Abnormal left ventricular functi...	ORPHA:36913
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc...	OMIM:618060
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Hearing impairment, Inability to walk, Epileptic spasm, Bilateral tonic-clonic...	OMIM:619877
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Syncope, Hypoglycemic seizures, Tachycardia, Status ep...	ORPHA:276556
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston...	ORPHA:280219
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Syngap1-Related Developmental And Epileptic Encephalopathy	Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Gait distur...	ORPHA:544254
Posttransplant Acute Limbic Encephalitis	Seizure, Myoclonus, Abnormal hippocampus morphology, Ataxia, Dystonia	ORPHA:163921
Sneddon Syndrome	Tremor, Chorea, Seizure, Hemiparesis	ORPHA:820
Canavan Disease	Epileptic spasm, Opisthotonus, Hypsarrhythmia, Bilateral tonic-clonic seizure, Multifocal epilept...	OMIM:271900
Brugada Syndrome 7	Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ...	OMIM:613120
Spinocerebellar Ataxia 34	Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ...	OMIM:133190
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Neonatal death, Opisth...	OMIM:605711
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ...	ORPHA:263297
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Acquired Methemoglobinemia	Seizure, Palpitations, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Fatigable weakness, Prolonged miniature endplate currents	OMIM:601462
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Tetraplegia, Seizure, Bradycardia	OMIM:610768
Schindler Disease, Type I	Spasticity, Myoclonus, Seizure	OMIM:609241
Ataxia-Telangiectasia-Like Disorder	Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent...	ORPHA:251347
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action t...	OMIM:607483
Epilepsy, Progressive Myoclonic, 10	Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni...	OMIM:616640
Keratoendotheliitis Fugax Hereditaria	Epiphora, Keratitis	OMIM:148200
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Ataxia, Dysdiadochoki...	OMIM:618356
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Spinocerebellar Ataxia 6	Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal v...	OMIM:183086
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Speech apraxia, First degree atrioventricular block, Poor fine motor coordin...	ORPHA:589821
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Seizure, Bradycardia	OMIM:617397
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Waisman Syndrome	Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ...	OMIM:311510
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Rigidity	OMIM:619057
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ...	ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Inability to walk, Myoclonus...	OMIM:617854
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Tremor, Seizure	ORPHA:276608
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Myoclonic seizure, Focal impaired awareness seizure, Hearing impairment, Inability to walk, Epile...	OMIM:619580
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Tremor, Dystoni...	OMIM:300055
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ...	OMIM:115195
Cystathioninuria	Tremor, Seizure	ORPHA:212
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Myoclonus, Abnormality ...	OMIM:614299
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait	ORPHA:369840
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hypertonia, Foc...	OMIM:619854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Dystonia	OMIM:600795
Hereditary Hyperekplexia	Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia	ORPHA:3197
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Hearing impairment, Generalized dystonia, Seizure, Inabilit...	OMIM:312080
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Alexander Disease Type I	Spasticity, Seizure, Abnormal pyramidal sign, Ataxia, Palatal tremor	ORPHA:363717
Spinocerebellar Ataxia Type 18	Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Illum Syndrome	Bradycardia	OMIM:208155
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Seizure, Abnormality of coordination, Myoclonus, Tremor, Rigid...	ORPHA:442835
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Seizure, Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia	OMIM:250620
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo...	ORPHA:282166
Encephalitis Lethargica	Tremor, Parkinsonism, Seizure, Bradycardia	ORPHA:83600
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bilateral toni...	OMIM:619983
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Syncope, Hypoglycemic seizures, Tachycardia, Status ep...	ORPHA:276575
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet...	OMIM:300623
Narp Syndrome	Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia	ORPHA:644
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Myoclonus, Spastic tetraplegia, Seizure	OMIM:614462
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Generalized-onset seizure, EEG with generalized epileptiform discharges, Seizure, Bilateral tonic...	OMIM:619827
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Seizure	ORPHA:397933
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Seizure, Inability to walk, Tremor, Hypertonia, Ataxia	OMIM:619556
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin...	ORPHA:70594
Peroxisome Biogenesis Disorder 5B	Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Lissencephaly Due To Tuba1A Mutation	Spasticity, Dysgenesis of the hippocampus, Infantile spasms, Agenesis of corpus callosum, Dysplas...	ORPHA:171680
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Syncope, Hypoglycemic seizures, Tachycardia, Status ep...	ORPHA:276580
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Spasticity, Seizure, Inability to walk, Tremor, Paroxysmal bursts of laughter	OMIM:618718
Spinocerebellar Ataxia 13	Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Progres...	OMIM:605259
Developmental And Epileptic Encephalopathy 61	Spasticity, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizure wit...	OMIM:617933
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Seizure, Episodic ataxia, Incoordination, Gait ataxia, Wolff-Parkinson-White syndrome, Hemiparesi...	OMIM:601338
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Bilateral tonic-clonic seizure	OMIM:618120
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Focal-onset seizure	OMIM:618972
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin, Febrile seizure (within t...	OMIM:609438
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Seizure, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:300894
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinski sign, Steppage gai...	OMIM:616505
Neuraminidase Deficiency	Cardiomyopathy, Seizure, Myoclonus, Dysmetria, Slurred speech	OMIM:256550
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Seizure, Absent hippocampal commissure, Hemiparesis, Agenesis of corpus callosum, Unsteady gait	OMIM:617542
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Developmental And Epileptic Encephalopathy 49	Spasticity, Myoclonic seizure, Macrotia, Myoclonus, Dysplastic corpus callosum, Tonic seizure, Hy...	OMIM:617281
Coproporphyria, Hereditary	Respiratory paralysis, Tachycardia, Hypertension	OMIM:121300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Seizure, Tremor, Parkinsonism, Lower limb spast...	ORPHA:3077
Tay-Sachs Disease	Hearing impairment, Aspiration pneumonia, Incoordination, Poor fine motor coordination, Inability...	ORPHA:845
Unilateral Polymicrogyria	Involuntary movements, Focal impaired awareness seizure, Abnormal posturing, Seizure, Pseudobulba...	ORPHA:268943
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Spastic tetraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 ...	OMIM:619847
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Alacrima, Seizure, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Esophagitis, Tr...	OMIM:615356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Seizure	ORPHA:2151
Cockayne Syndrome Type 1	Hearing impairment, Seizure, Difficulty walking, Tremor, Lower limb spasticity, Absent brainstem ...	ORPHA:90321
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Seizure, Ataxia	ORPHA:324290
Hyperekplexia 1	Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls	OMIM:149400
Intellectual Developmental Disorder, X-Linked 30	Seizure, Generalized non-motor (absence) seizure, Clumsiness, Hydrocephalus, Bilateral tonic-clon...	OMIM:300558
Mohr-Tranebjaerg Syndrome	Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia, Aspiration pne...	ORPHA:52368
3-Methylglutaconic Aciduria Type 7	Spasticity, Cardiomyopathy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opi...	ORPHA:445038
Leukoencephalopathy With Ataxia	Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Gm1-Gangliosidosis, Type Iii	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:230650
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Ataxia, Tachyc...	OMIM:618321
Huntington Disease	Involuntary movements, Seizure, Chorea, Myoclonus, Rigidity, Babinski sign, Clumsiness, Clonus, B...	ORPHA:399
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Episodic ataxia, Myoclonus, Tremor, Choreoathetosis	OMIM:312170
Lissencephaly 9 With Complex Brainstem Malformation	Low-set ears, Involuntary movements, Spasticity, Dysgenesis of the hippocampus, Myoclonic seizure...	OMIM:618325
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Decreased miniature endplate potentials	OMIM:608930
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Bilateral tonic-...	ORPHA:98795
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c...	OMIM:617013
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonic seizure, Myoclonus, Hypertonia	OMIM:618240
Ogden Syndrome	Generalized-onset seizure, Torsade de pointes, Premature atrial contractions, Supraventricular ta...	OMIM:300855
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Arrhythmia, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 mo...	ORPHA:42
Glycogen Storage Disease Iv	Portal hypertension, Cardiomyopathy, Bradycardia	OMIM:232500
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Appendicular spas...	OMIM:620352
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Cardiomyopathy, Seizure, Myoclonus, Neonatal death, Stillbirth	OMIM:614922
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spasticity, Pseudobulbar paralysis, Rigidity, Hemiparesis, Spastic ataxia, Abnormal pyramidal sig...	ORPHA:199354
Dystonia 26, Myoclonic	Blepharospasm, Myoclonus, Torticollis	OMIM:616398
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Periodic hypokalemic paresis, Palpitations, Tremor, Shorten...	ORPHA:79102
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	EEG with generalized epileptiform discharges, Seizure, EEG abnormality, Bilateral tonic-clonic se...	ORPHA:488613
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki...	OMIM:612953
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o...	OMIM:612949
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6...	OMIM:620292
Aicardi-Goutieres Syndrome 6	Chilblains, Tremor, Rigidity, Loss of ambulation, Dystonia	OMIM:615010
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Alternating Hemiplegia Of Childhood	Seizure, Cardiomyopathy, Abnormal T-wave, Tetraparesis, Episodic hemiplegia, Chorea, Cardiac cond...	ORPHA:2131
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Abnormal pyramidal sign, Limb dysmetria, Cardiomyopathy	ORPHA:329336
Spinocerebellar Ataxia, Autosomal Recessive 31	Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:619422
Jaberi-Elahi Syndrome	Low-set ears, Broad-based gait, Inability to walk, Gait ataxia, Appendicular spasticity, Dysmetri...	OMIM:617988
Congenital Sialidosis Type 2	Spasticity, Seizure, Abnormal EKG, Myoclonus, Dysmetria, Telangiectasia, Ataxia	ORPHA:93400
Myoclonic-Astatic Epilepsy	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Bil...	ORPHA:1942
Lafora Disease	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ...	ORPHA:501
Gaucher Disease, Type Iii	Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia	OMIM:231000
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Combined Oxidative Phosphorylation Deficiency 54	Seizure, Generalized-onset seizure, Tremor, Hemiparesis, Hypertonia, Tachycardia	OMIM:619737
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Fabry Disease	Atrioventricular block, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle br...	ORPHA:324
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Involuntary movements, Seizure, Prolonged QRS complex, ...	ORPHA:90068
Pyruvate Dehydrogenase Deficiency	Spasticity, Seizure, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, D...	ORPHA:765
Infantile Krabbe Disease	Spasticity, Seizure, Myoclonus, Ankle clonus, Opisthotonus, Lower limb spasticity, Abnormal heart...	ORPHA:206436
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Seizure, Epileptic spasm, Myoclonus, Hypertonia, Spastic tetraparesis	ORPHA:284417
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Seizure, Myoclonus, Babinski sign, Apraxia	OMIM:221770
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Myoclonus, Seizure, Rigidity	OMIM:300673
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Seizure, Torsade de pointes, Hypertrophic cardiomyopathy, Gait ataxia, Ventricular tachycardia, C...	OMIM:616878
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Tremor, Limb hypertonia, Seizure	OMIM:617162
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Seizure, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait distu...	OMIM:300957
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Spasticity, Focal myoclonic seizure, Seizure, Hearing impairment, Difficulty walkin...	ORPHA:481152
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Decerebrate rigidity, Seizure, Tip-toe gait, Gait ataxia, Cholecystitis, Babinski sig...	ORPHA:309256
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clu...	OMIM:617282
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Dysgenesis of the hippocampus, Seizure, Noncommunicating hydrocephalus, Infantile s...	OMIM:619320
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Seizure, Congestive heart failure, Myoclonus, Tremor, Hyperkinetic movements, Opistho...	OMIM:616271
Van Den Bosch Syndrome	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Myoclonus, Babinski sign, Limb hypertonia, Limb tremor, Torticollis, ...	OMIM:608643
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth	OMIM:617468
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Progressive spastic paraplegia, Generalized dystonia, Progressive spastic paraparesis, Los...	ORPHA:329308
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Seizure, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exagger...	OMIM:618056
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Combined Oxidative Phosphorylation Deficiency 27	Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Dyst...	OMIM:616672
20P12.3 Microdeletion Syndrome	Seizure, Wolff-Parkinson-White syndrome	ORPHA:261295
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Spasticity, Dysgenesis of the hippocampus, Lateral ventricle dilatation, Seizure, I...	ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 74	Hypertonia, Typical absence seizure, Bilateral tonic-clonic seizure	OMIM:620688
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Athetosis, Seizure, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Multifocal ...	OMIM:617710
Early Infantile Epileptic Encephalopathy	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:1934
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes...	ORPHA:64280
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Lacrimation abnormality	ORPHA:1484
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discha...	OMIM:616973
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Head tremor, Gait imbalance, Postural tremor, Babinski sign, Abnorma...	ORPHA:64753
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Spasticity, Seizure, Inability to walk, Chorea, Hypertonia, Exaggerated startle response, Status ...	OMIM:617864
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Lujo Hemorrhagic Fever	Hypotension, Resting tremor, Seizure, Shock, Bilateral tonic-clonic seizure, Bradycardia, Myocard...	ORPHA:319213
Myopathy With Extrapyramidal Signs	Seizure, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsi...	OMIM:615673
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Neonatal death, Frequent falls, Bradycardia	OMIM:620351
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia, Seizure	OMIM:600649
Ritscher-Schinzel Syndrome 4	Dysgenesis of the hippocampus, Chorea, Agenesis of corpus callosum, Bilateral tonic-clonic seizur...	OMIM:619435
Marshall-Smith Syndrome	Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension, Hypertonia	OMIM:602535
Coenzyme Q10 Deficiency, Primary, 1	Seizure, Hypertrophic cardiomyopathy, Myoclonus, Tremor, Right hemiplegia, Ataxia, Status epilept...	OMIM:607426
Postencephalitic Parkinsonism	Involuntary movements, Oculogyric crisis, Resting tremor, Seizure, Akinesia, Paresthesia, Cogwhee...	ORPHA:97349
D-Glyceric Aciduria	Spasticity, Chorea, Myoclonus, Seizure	ORPHA:941
Limbal Stem Cell Deficiency	Blepharospasm, Epiphora, Keratitis, Lacrimation abnormality	ORPHA:171673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block, Seizure	OMIM:610131
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Periodic paralysis	OMIM:188580
Ethylene Glycol Poisoning	Hypotension, Seizure, Congestive heart failure, Shock, Myoclonus, Prolonged QT interval, Ataxia, ...	ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome	OMIM:618234
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Epilepsia partialis continua, Low-set ears, Difficulty walking, Gait ataxia, Myoclonus, A...	OMIM:620451
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Seizure, Interictal EEG abnormality, Infantile spasms, Bilateral tonic-clonic seizure, EEG with g...	ORPHA:544503
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment...	ORPHA:206594
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Seizure, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sig...	ORPHA:309246
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Sudden cardiac death, Bi...	OMIM:201475
Pyridoxal Phosphate-Responsive Seizures	Hypertonia, Myoclonus, Status epilepticus, Seizure	ORPHA:79096
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Hypertension	ORPHA:371428
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension, Status epilepticus	OMIM:613870
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Decerebrate rigidity, Seizure, Cholecystitis, Babinski sign, Progressive gait ataxia,...	ORPHA:309263
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula...	OMIM:193003
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Sensorineural hearing impairment, Photosensitive myoclonic seizure, Gait disturbance, Hyp...	ORPHA:1192
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Myoclonus	OMIM:619060
Synaptic Congenital Myasthenic Syndromes	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Abnormal synaptic t...	ORPHA:98915
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Hearing impairment, Seizure, Exaggerated startle response	OMIM:620114
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Tachycardia, Syncope, Palpitations	ORPHA:324575
Spinocerebellar Ataxia Type 13	Seizure, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradykinesia, Titubation	ORPHA:98768
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hearing impairment, Seizure, Hypoplastic hippocampus,...	OMIM:617780
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Neonatal death, Limb hypertonia, Hypertonia, Bilateral tonic-clonic se...	OMIM:615501
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
Acrocraniofacial Dysostosis	Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairmen...	ORPHA:949
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function	ORPHA:356
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Inability to walk, Gait ataxia, Hypoplastic hippocampus, Overfolded...	OMIM:618606
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Sialidosis Type 2	Tremor, Seizure, Ataxia	ORPHA:87876
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Limb dystonia, EEG with front...	ORPHA:457351
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ...	OMIM:615530
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Sandhoff Disease	Spasticity, Myoclonic seizure, Fasciculations, Orthostatic hypotension, Bilateral tonic-clonic se...	OMIM:268800
Rhizomelic Chondrodysplasia Punctata, Type 5	Convulsive status epilepticus, Sinus tachycardia, Seizure	OMIM:616716
Waardenburg Syndrome Type 1	Hearing impairment, Congenital sensorineural hearing impairment, Lacrimation abnormality, Spina b...	ORPHA:894
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Ataxia, Spastic g...	OMIM:620538
Postsynaptic Congenital Myasthenic Syndromes	Decreased miniature endplate potentials, Fatigable weakness of respiratory muscles, Fatigable wea...	ORPHA:98913
3-Methylglutaconic Aciduria, Type Viii	Seizure, Tremor, Neonatal death, Clonus, Hypertonia, Bradycardia	OMIM:617248
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor	ORPHA:363722
Combined Oxidative Phosphorylation Defect Type 23	Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular...	ORPHA:444013
Subependymal Nodular Heterotopia	Focal aware seizure, Limb myoclonus, Seizure, Focal-onset seizure	ORPHA:101030
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Seizure, Tremor, Abnormality of extrapyramidal motor function, Pulmonary arterial hy...	OMIM:277400
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia	ORPHA:1020
Paroxysmal Hemicrania	Rhinitis, Focal sensory seizure with olfactory features, Epiphora	ORPHA:157835
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Lacrimation abnormality	ORPHA:1882
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Seizure, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Alacrima, Hearing impairment, Seizure, Myoclonus, Sensorineural ...	OMIM:609136
Biotinidase Deficiency	Spastic paraparesis, Myelopathy, Hearing impairment, Seizure, Eczematoid dermatitis, Infantile sp...	ORPHA:79241
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Sepsis In Premature Infants	Tachycardia, Hypotension, Seizure, Bradycardia	ORPHA:90051
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida...	OMIM:606002
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:618378
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased lacrimation, Generalized non-motor (absence) seizure, Inability to walk, Chorea, Infant...	ORPHA:404454
Alfadhel Syndrome	Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure	OMIM:620655
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus, Seizure	OMIM:616158
Autosomal Recessive Spastic Paraplegia Type 77	Seizure, Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor gait, Lower limb spast...	ORPHA:466722
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Seizure, Myoclonus, Abnormal pyramidal sign, Ataxia, My...	ORPHA:3452
Sneddon Syndrome	Hemiplegia, Tremor, Impaired distal tactile sensation, Seizure	OMIM:182410
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Pseudobulbar paralysis, Cerebral ischemia, Respiratory...	ORPHA:449285
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hyperkinetic movements, Myoclonic spasms, Bilat...	ORPHA:73224
Neurotrophic Keratopathy	Lacrimation abnormality, Allodynia, Anterior uveitis	ORPHA:137596
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Spasticity, Lower limb spasticity, Cl...	OMIM:616881
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Involuntary movements, Spasticity, Myoclonic seizure, Infantile spasms, Abnormal hippocampus morp...	ORPHA:572013
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Spastic tetraplegia, Seizure, Myoclonus, Neonatal death, Intraventricular hemorrhage, Clonus, Sta...	OMIM:619055
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Metachromatic Leukodystrophy, Adult Form	Spasticity, Decerebrate rigidity, Seizure, Difficulty walking, Chorea, Cholecystitis, Progressive...	ORPHA:309271
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Low-set ears, Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure	OMIM:618381
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Mercury Poisoning	Hypotension, Seizure, Tremor, Tachycardia, Hypertension	ORPHA:330021
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia	OMIM:618775
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Myoclonus, Opisthotonus, Oculomot...	OMIM:614969
Ataxia-Telangiectasia	Spasticity, Seizure, Tremor, Gait disturbance, Ataxia	ORPHA:100
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio...	OMIM:113650
Focal Facial Dermal Dysplasia Type Iii	Lacrimation abnormality	ORPHA:1807
Combined Oxidative Phosphorylation Deficiency 39	Involuntary movements, Spasticity, Ankle clonus, Sinus bradycardia, Babinski sign	OMIM:618397
Bilateral Polymicrogyria	Low-set ears, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms, Spast...	ORPHA:268940
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Periodic paralysis, Tremor	OMIM:613239
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Seizure, Incoordination, Tremor, Shortened PR interval, Abnormal pyramidal sign, Wolff-Pa...	OMIM:614947
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor,...	OMIM:105210
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
11Q22.2Q22.3 Microdeletion Syndrome	Low-set ears, Posteriorly rotated ears, Abnormal social behavior, Seizure	ORPHA:444002
Mucopolysaccharidosis Type 3	Vocal cord paresis, Atrioventricular block, Spasticity, Seizure, Reduced left ventricular ejectio...	ORPHA:581
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Gm2-Gangliosidosis, Ab Variant	Myoclonic seizure, Seizure, Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hyp...	OMIM:272750
Pitt-Hopkins-Like Syndrome 1	Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, E...	OMIM:610042
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal ...	ORPHA:447753
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Spastic paraparesis, Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure, Hemip...	ORPHA:395
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Spasticity, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spa...	ORPHA:79351
Valinemia	Hyperkinetic movements	OMIM:277100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Cataplexy, Seizure, Inability to walk, Epileptic spasm, Generalized tonic ...	OMIM:617193
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Seizure, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:364028
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Overfolded helix, Reduced social reciprocity, Bilateral tonic-clonic seizure	OMIM:616083
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Dilated cardiomyopathy, Myoclonus, Seizure	ORPHA:70595
Sandifer Syndrome	Esophagitis, Abnormal posturing, Torticollis	ORPHA:71272
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a...	OMIM:614298
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Gait ataxia, Hoffmann sign, Bab...	OMIM:601162
Melas	Ataxia, Dilated cardiomyopathy, Seizure, Concentric hypertrophic cardiomyopathy, Hypertrophic car...	ORPHA:550
Idiopathic Camptocormia	Dystonia, Parkinsonism, Abnormal synaptic transmission at the neuromuscular junction, Fatigable w...	ORPHA:1320
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa...	OMIM:612716
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension, Rigidity	OMIM:145600
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension, Bilateral vocal cord paresis	OMIM:614653
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Extrapyramidal muscular rigidity, Chorea, T...	ORPHA:94093
Neurodegeneration With Brain Iron Accumulation 2A	Hearing impairment, Seizure, Reduced social reciprocity, Abnormal pyramidal sign, Gliosis, Ataxia...	OMIM:256600
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Necrotizing Enterocolitis	Shock, Hypotension, Bradycardia	ORPHA:391673
Developmental And Epileptic Encephalopathy 95	Hearing impairment, Seizure, Inability to walk, Inappropriate laughter, Thickened helices, Gait d...	OMIM:618143
Juvenile Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Lower limb spasticity, Ataxia, Generalized myoclonic s...	ORPHA:93399
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:94089
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication	OMIM:259900
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Chorea, Infantile spasm...	ORPHA:255210
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Spasticity, Prominent antihelix, Generalized non-motor (absence) seizure, Seizure, Inappropriate ...	OMIM:615802
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Neuroblastoma, Susceptibility To, 1	Hypertension, Myoclonus, Ataxia	OMIM:256700
Peho Syndrome	Myoclonus, Seizure	OMIM:260565
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Recurrent pneumonia, Cataplexy, Fasciculations, Febrile seizure (within the age range...	ORPHA:496641
Sialidosis Type 1	Seizure, Myoclonus, Tremor, Ataxia, Slurred speech	ORPHA:812
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Restrictive cardiomyopathy, Seizure, Generalized non-motor (absence) seizure, ...	OMIM:615398
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms	OMIM:618374
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Cardiomyopathy, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign, Ataxia	OMIM:620089
Choreoacanthocytosis	Lateral ventricle dilatation, Resting tremor, Limb dystonia, Loss of ambulation, Hypoplastic hipp...	ORPHA:2388
Adenylosuccinase Deficiency	Spasticity, Seizure, Hemiplegia, Myoclonus, Gait ataxia, Opisthotonus	OMIM:103050
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Myoclonus, Seizure	OMIM:617669
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis	OMIM:605373
Glucocorticoid Deficiency 2	Recurrent pneumonia, Myoclonic seizure, Alacrima, Myoclonus, Spastic tetraparesis, Focal motor se...	OMIM:607398
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Optic Atrophy-Intellectual Disability Syndrome	Abnormal helix morphology, Spasticity, Hearing impairment, Seizure, Abnormal hippocampus morpholo...	ORPHA:401777
Hermansky-Pudlak Syndrome 10	EEG abnormality, Dystonia, Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Mepan Syndrome	Spasticity, Chorea, Myoclonus, Ataxia	ORPHA:508093
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit...	ORPHA:48818
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,...	OMIM:617675
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Cardiac arrest, Spasticity, Myoclonus, Seizure	OMIM:246450
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Seizure, Epileptic spasm, Speech apraxia, Myoclonus, Bilateral tonic-clonic seizure with generali...	ORPHA:314655
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Hearing impairment, Bilateral tonic-clonic seizure	OMIM:616351
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Seizure	OMIM:229700
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia, Lower limb spasticity, Seizure	OMIM:620475
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ...	OMIM:168601
Baker-Gordon Syndrome	Involuntary movements, Hyperkinetic movements, Ataxia, Athetoid cerebral palsy, Choreoathetosis	OMIM:618218
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Hearing impairment, Seizure, Infantile spasms, Myoclonus, Hypoplastic hippocampus, ...	OMIM:614261
Pelger-Huet Anomaly	Eczematoid dermatitis, Seizure, Recurrent otitis media, Bilateral tonic-clonic seizure, Lower lim...	OMIM:169400
De Sanctis-Cacchione Syndrome	Spasticity, Keratitis, Sensorineural hearing impairment, Babinski sign, Scissor gait, Hypertonia,...	OMIM:278800
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Seizure, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricula...	OMIM:300952
Cog8-Cdg	Myoclonus, Seizure, Ataxia	ORPHA:95428
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Developmental And Epileptic Encephalopathy 2	Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal seizures, Generalized...	OMIM:300672
Paternal Uniparental Disomy Of Chromosome 1	Hypertension, Myoclonus, Seizure	ORPHA:251004
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Hypertonia, Myoclonus, Seizure	ORPHA:3078
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Resting tremor, Seizure, Bradykinesia, Reduced left ventricular ejection ...	ORPHA:254892
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,...	OMIM:613839
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Opisthotonus, Babinski sign,...	OMIM:618076
Hypocomplementemic Urticarial Vasculitis	Cerebral palsy, Seizure, Episcleritis, Skin rash, Hemiplegia/hemiparesis, Sensorineural hearing i...	ORPHA:36412
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus,...	OMIM:619229
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines...	ORPHA:171695
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Seizure, Epileptic spasm, Myoclonus, Vocal cord paralysis	ORPHA:500144
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Spasticity, Seizure, Myoclonus, Spastic hemiparesis, Ataxia,...	ORPHA:20
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:618354
Congenital Insensitivity To Pain With Severe Intellectual Disability	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	ORPHA:453510
Porphyria, Acute Intermittent	Seizure, Respiratory paralysis, Paralysis, Tachycardia, Hypertension	OMIM:176000
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Bradycardia	ORPHA:70
Warburg Micro Syndrome 3	Myoclonic seizure, Inability to walk, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic...	OMIM:614222
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Tremor, Rigidity, Atax...	ORPHA:25
Hydroxykynureninuria	Tachycardia, Hypotension, Hypertonia	ORPHA:79155
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Myoclonic seizure, Hearing impairment, Fasciculations, Tremor, Limb hypertonia, Exaggerated start...	OMIM:620327
Atrial Septal Defect 1	Aortic valve stenosis, Second degree atrioventricular block	OMIM:108800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:619566
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Classic Phenylketonuria	Eczematoid dermatitis, Seizure, Hemiplegia, Paraplegia, Tremor, Hypertonia	ORPHA:79254
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia, Abnormal synaptic ...	ORPHA:683
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon...	OMIM:620070
African Trypanosomiasis	Involuntary movements, Second degree atrioventricular block, Third degree atrioventricular block,...	ORPHA:3385
Hyperostosis Cranialis Interna	Tinnitus, Epiphora, Sensorineural hearing impairment	OMIM:144755
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Continuous spike and waves during slow sleep, Seizure, Generalized non-motor (absence) seizure, I...	OMIM:620224
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Decreased lacrimation, Fasciitis, Acute hepatiti...	ORPHA:39812
Intellectual Developmental Disorder, X-Linked 98	Atonic seizure, Generalized non-motor (absence) seizure, Infantile spasms, Reduced social recipro...	OMIM:300912
Lacrimal Duct Defect	Conjunctivitis, Epiphora, Sinusitis	OMIM:149700
Hereditary Coproporphyria	Tachycardia, Seizure	ORPHA:79273
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response	OMIM:609541
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Bilateral sensorineural hearing impairment, Tremor, Seizure, Arthritis	ORPHA:397744
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Seizure, Skin rash, Arthritis, ...	OMIM:607115
Joubert Syndrome With Renal Defect	Seizure, Low-set, posteriorly rotated ears, Encephalocele, Tremor, Agenesis of corpus callosum, O...	ORPHA:220497
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Cortical myoclonus, Congestive heart failure	ORPHA:428
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Crimean-Congo Hemorrhagic Fever	Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival...	ORPHA:99827
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-...	ORPHA:99104
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168600
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Hypsarrhythm...	OMIM:620423
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Myoclonus, Telangiectasia, Oculomotor apraxia, Bilateral tonic-clonic seizure, Ataxia	ORPHA:247262
Tay-Sachs Disease	Seizure, Exaggerated startle response	OMIM:272800
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, C...	ORPHA:199351
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia	OMIM:168605
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Lateral ventricle dilatation, Seizure, Difficulty walking, Gait imbalance, Sensorineural hearing ...	ORPHA:488627
Congenital Disorder Of Deglycosylation 1	Low-set ears, Involuntary movements, Myoclonic seizure, Alacrima, Seizure, Chorea, Myoclonus, Act...	OMIM:615273
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Ba...	OMIM:229300
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Exaggerated startle response, Rigidity	ORPHA:3198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Seizure, Exaggerated startle response, Dystonia, Abnormal pinna morphology	ORPHA:438216
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Decreased lacrimation, Erythroderma, Sensorineural hearing impairment	OMIM:242150
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid...	ORPHA:436159
Cockayne Syndrome	Spasticity, Alacrima, Progressive sensorineural hearing impairment, Seizure, High-frequency senso...	ORPHA:191
Hsd10 Disease, Infantile Type	Poor coordination, Seizure, Hypertrophic cardiomyopathy, Hyperkinetic movements, Spastic tetrapar...	ORPHA:391428
Yellow Fever	Seizure, Shock, Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Hemateme...	ORPHA:99829
Slc35A2-Cdg	Lateral ventricle dilatation, Seizure, Inability to walk, Infantile spasms, Sensorineural hearing...	ORPHA:356961
Scrub Typhus	Seizure, Skin rash, Tremor, Infectious encephalitis, Myocarditis, Anterior uveitis	ORPHA:83317
Waardenburg Syndrome	Lacrimation abnormality, Myelomeningocele, Conductive hearing impairment, Hearing impairment	ORPHA:3440
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Low-set ears, Sensorineural hearing impairment, Babinski sign, Clonus, Limb hypertonia, Bilateral...	ORPHA:423479
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat...	ORPHA:1880
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Focal myoclonic seizure, Short ear, Dysmetria, Hypoplastic hippocampus, Unsteady gait, Abnormal p...	ORPHA:314647
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Epiphora, Cupped ear	OMIM:167730
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
East Syndrome	Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Action tremor, Ataxia	ORPHA:199343
Cntnap2-Related Developmental And Epileptic Encephalopathy	EEG with generalized epileptiform discharges, Seizure, Focal-onset seizure, EEG with generalized ...	ORPHA:163681
Familial Cold Autoinflammatory Syndrome 1	Hearing impairment, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Clonus, Ataxia, Nonprogressive ce...	OMIM:301310
X-Linked Cerebral Adrenoleukodystrophy	Limb myoclonus, Seizure, Dysmetria, Hemiparesis, Ankle clonus, Hoffmann sign, Apraxia, Lower limb...	ORPHA:139396
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Tremor, Rigidity, Hypertonia, Cerebral amyloid angiopathy	OMIM:176500
Refsum Disease	Cardiomyopathy, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Ataxia, Heart block	ORPHA:773
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized myoc...	ORPHA:435638
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Molybdenum Cofactor Deficiency, Type B	Seizure, Neonatal death, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hyperton...	OMIM:252160
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Unsteady gait,...	OMIM:254900
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis	OMIM:168000
Intellectual Developmental Disorder, Autosomal Dominant 54	Atonic seizure, Seizure, Eczematoid dermatitis, Inability to walk, Hyperkinetic movements, Lower ...	OMIM:617799
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Hydranencephaly, Lateral ventricle dilatation, Seizure, Inability to walk, Dystonia, ...	OMIM:620371
Brain-Lung-Thyroid Syndrome	Involuntary movements, Incoordination, Chorea, Myoclonus, Intention tremor, Clumsiness, Apraxia, ...	ORPHA:209905
Neuromuscular Oculoauditory Syndrome	Infantile spasms, Sensorineural hearing impairment, Simple ear, Agenesis of corpus callosum, Bila...	OMIM:618733
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myoclonic seizure, Seizure, Tetraparesis, Tremor, Rigidity, Torticollis, Ataxia	OMIM:617186
Immunodeficiency 23	Ataxia, Cortical myoclonus, Myoclonus, Vasculitis in the skin	OMIM:615816
Joubert Syndrome With Ocular Defect	Seizure, Low-set, posteriorly rotated ears, Encephalocele, Tremor, Agenesis of corpus callosum, O...	ORPHA:220493
Angelman Syndrome	Ataxia, Seizure, Infantile spasms, Myoclonus, Tremor, Atonic seizure, Atypical absence seizure, S...	ORPHA:72
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hyperkinetic movements, Hypertonia, Seizure	OMIM:236270
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Spasticity, Seizure, Sensorineural hearing impairment, Abnormal pyramidal sign, Ataxia, Decreased...	ORPHA:163746
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Large earlobe, Underfolded helix, Bilateral tonic-clonic seizure, Posteriorly rotat...	OMIM:618316
Niemann-Pick Disease Type C	Hearing impairment, Aspiration pneumonia, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal...	ORPHA:646
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Seizure, Ataxia	ORPHA:79095
Johanson-Blizzard Syndrome	Lacrimation abnormality, Sensorineural hearing impairment	ORPHA:2315
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Seizure, Myoclonus, Mitral regurgitation, Dysmetria, Gait ataxia, Babinsk...	OMIM:607459
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Myoclonus, Ataxia	OMIM:560000
Marsili Syndrome	Lacrimation abnormality	OMIM:147430
Cockayne Syndrome A	Abnormal auditory evoked potentials, Seizure, Tremor, Sensorineural hearing impairment, Gait dist...	OMIM:216400
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Epiphora	ORPHA:98957
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Lacrimation abnormality	ORPHA:2916
Intellectual Developmental Disorder, Autosomal Dominant 53	Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r...	OMIM:617798
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Seizure, Shock, Capillary leak, Internal hemorrhage, Bra...	ORPHA:99826
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Joubert Syndrome	Low-set ears, Seizure, Encephalocele, Tremor, Oculomotor apraxia, Gait disturbance, Hydrocephalus...	ORPHA:475
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Recurrent skin infections, Decreased lacrimation, Sensorineural hearing impairment	OMIM:616488
Vernal Keratoconjunctivitis	Epiphora, Allergic conjunctivitis, Keratoconjunctivitis, Punctate keratitis, Blepharitis	ORPHA:70476
Lamb-Shaffer Syndrome	Upper motor neuron dysfunction, Abnormal social behavior, Seizure, Ataxia	ORPHA:530983
Microphthalmia, Syndromic 11	Hippocampal malrotation, Agenesis of corpus callosum	OMIM:614402
Dyskeratosis Congenita, Autosomal Recessive 6	Epiphora, Ataxia	OMIM:616353
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C...	ORPHA:860
Nmda Receptor Encephalitis	Involuntary movements, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Focal-onset seizure...	ORPHA:217253
Neuroblastoma	Hypertension, Myoclonus, Ataxia	ORPHA:635
Amish Lethal Microcephaly	Limb hypertonia, Spina bifida, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	ORPHA:99742
Sunct Syndrome	Increased tear production, Epiphora	ORPHA:57145
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure wit...	OMIM:620024
Isolated Thyroid-Stimulating Hormone Deficiency	Clumsiness, Bradycardia	ORPHA:90674
Cockayne Syndrome Type 2	Hearing impairment, Difficulty walking, Gait disturbance, Lower limb spasticity, Limb hypertonia,...	ORPHA:90322
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l...	ORPHA:3093
Congenital Fibrinogen Deficiency	Tachycardia, Opisthotonus, Internal hemorrhage	ORPHA:335
Cockayne Syndrome B	Abnormal auditory evoked potentials, Seizure, Tremor, Sensorineural hearing impairment, Ataxia, N...	OMIM:133540
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Spasticity, Oculomotor apraxia, Myoclonus	ORPHA:2752
Bohring-Opitz Syndrome	Lower limb hypertonia, Seizure, Bradycardia	ORPHA:97297
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Tremor, Myoclonus, Seizure, Ataxia	ORPHA:98794
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Lateral ventricle dilatation, Seizure, Difficulty walking, Limb dystonia, Dysmetria...	ORPHA:572798
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms	ORPHA:478029
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Fatal Familial Insomnia	Myoclonus, Ataxia	OMIM:600072
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Hyperkinetic movements, Truncal ataxia, Chorea, Seizure	ORPHA:369847
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Paralysis, Syncope, Rayna...	ORPHA:358
Chromosome 22Q13 Duplication Syndrome	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:615538
Combined Oxidative Phosphorylation Deficiency 14	Myoclonic seizure, Myoclonus, Seizure	OMIM:614946
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Progressive Multifocal Leukoencephalopathy	Seizure, Gait ataxia, Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper moto...	ORPHA:217260
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Exaggerated startle response, Progressive spastic paraplegia, Abnormality of ...	ORPHA:320406
Dystonia-Aphonia Syndrome	Myoclonus, Seizure	ORPHA:412217
Herpes Simplex Virus Stromal Keratitis	Epiphora, Keratitis	ORPHA:137599
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Tremor, Seizure	ORPHA:263455
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, EEG with bu...	OMIM:614231
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Myoclonus, Intention tremor, Tremor, ...	OMIM:208900
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Heart block	OMIM:617063
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Metachromatic Leukodystrophy	Tip-toe gait, Seizure, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate ri...	ORPHA:512
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Epithelial Recurrent Erosion Dystrophy	Epiphora, Keratoconjunctivitis sicca	ORPHA:293381
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Tremor, Hyperkinetic movements, Atrial...	ORPHA:525731
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome	OMIM:619705
Wolfram Syndrome 1	Hearing impairment, Seizure, Tremor, Sensorineural hearing impairment, Ataxia	OMIM:222300
Alexander Disease	Spasticity, Seizure, Chorea, Tremor, Agenesis of corpus callosum, Infectious encephalitis, Abnorm...	ORPHA:58
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Epiphora, Chronic mucocutaneous candidiasis, Hearing impairment, ...	OMIM:158310
W Syndrome	Spasticity, Acne, Bilateral tonic-clonic seizure	ORPHA:2804
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pulmonary hemorrhage, Paraplegia, Portal hypertension, Hemiparesis, Paraparesis, Bilateral tonic-...	ORPHA:79124
Vici Syndrome	Low-set ears, Abnormal posturing, Chronic mucocutaneous candidiasis, Seizure, Sensorineural heari...	OMIM:242840
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Broad-based gait, Hand tremor, Hippocampal atrophy, Seizure, Short ear, Gait ataxia...	OMIM:614756
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Epiphora	ORPHA:141083
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Lacrimoauriculodentodigital Syndrome 2	Alacrima, Cupped ear, Hearing impairment, Conjunctivitis, Microtia	OMIM:620192
Familial Dysautonomia	Alacrima, Gait disturbance, Seizure, Ataxia	ORPHA:1764
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Atonic seizure, Seizure, EEG with generalized slow activity, Tonic seizure, Exaggerated startle r...	OMIM:618367
1Q44 Microdeletion Syndrome	Hydrocephalus, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	ORPHA:238769
Leptospirosis	Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor...	ORPHA:509
Eisenmenger Syndrome	Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr...	ORPHA:97214
Glass Syndrome	Low-set ears, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:612313
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Seizure, Concentric hypertrophic cardiomyopathy, Tremor, Bilateral tonic-...	OMIM:610505
Asparagine Synthetase Deficiency	Seizure, Tremor, Simple ear, Clonus, Limb hypertonia, Hypertonia, Exaggerated startle response, C...	OMIM:615574
Hyperlysinemia	Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Recurrent pneumonia, T...	ORPHA:2203
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Status ep...	OMIM:301072
Pgm3-Cdg	Seizure, Myoclonus, Vasculitis in the skin, Ataxia, Cortical myoclonus	ORPHA:443811
Eec Syndrome	Keratitis, Sensorineural hearing impairment, Lacrimation abnormality, Abnormal pinna morphology, ...	ORPHA:1896
Porphyria Variegata	Seizure, Tetraparesis, Respiratory paralysis, Tachycardia, Hypertension	ORPHA:79473
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Seizure, Generalized-onset seizure, Rigidity, Abnormality of extrapyramidal motor f...	OMIM:617527
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Seizure, Generalized-onset seizure, Infantile spasms, Hyperkinetic movements, Athetosis	OMIM:612073
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Arrhythmia, Cardiomyopathy, Seizure, Heart block	ORPHA:228308
Muckle-Wells Syndrome	Progressive sensorineural hearing impairment, Recurrent aphthous stomatitis, Episcleritis, Skin r...	ORPHA:575
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Seizure, Agenesis of corpus callosum, Tetraplegia, Bilateral tonic-clonic seizure, ...	OMIM:257300
Carcinoid Syndrome	Epiphora	ORPHA:100093
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi...	OMIM:234200
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure, Hypovolemia	ORPHA:99885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Seizure, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Exaggerated startle response,...	OMIM:253800
Trisomy 8P	Conductive hearing impairment, Seizure, Aplasia/Hypoplasia of the tragus, Abnormal middle ear mor...	ORPHA:264450
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Seizure, Low-set, posteriorly rotated ears, Protruding ear, Lacrimation abnormalit...	ORPHA:534
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Hypertonia	OMIM:618426
Plaa-Associated Neurodevelopmental Disorder	Seizure, Low-set, posteriorly rotated ears, Abnormality of extrapyramidal motor function, Rigidit...	ORPHA:521426
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Diminishment of social interactions, Spasticity, Myoclonic seizure, Hearing impairment, Generaliz...	OMIM:620455
Gm1 Gangliosidosis Type 1	Low-set ears, Spasticity, Hearing impairment, Seizure, Aspiration pneumonia, Exaggerated startle ...	ORPHA:79255
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atopic dermatitis, Tongue tremor, Hearing impairment, Seizure, Fasciculations, Difficulty walking...	ORPHA:466768
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr...	ORPHA:280365
Leukodystrophy, Hypomyelinating, 10	Hyperkinetic movements, Babinski sign, Spasticity, Seizure	OMIM:616420
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Seizure, Hypertrophic cardiomyopathy, Myoclonus, Hyperkinetic movements, Hypertonia, Choreoathetosis	ORPHA:17
Dyskeratosis Congenita, Autosomal Dominant 3	Epiphora, Hearing impairment, Ataxia	OMIM:613990
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Seizure, Increased tear production, Hemiparesis, Abnormal hypothalamus morphology, Pus...	ORPHA:68
Listeriosis	Arteritis, Seizure, Congestive heart failure, Myoclonus, Tremor, Hemiparesis, Ataxia, Myocarditis...	ORPHA:533
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
X Small Rings	Bilateral tonic-clonic seizure, Mitral stenosis, Seizure	ORPHA:96201
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima, Sensorineural hearing impairment	OMIM:608088
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi...	OMIM:619573
Weaver Syndrome	Spasticity, Lateral ventricle dilatation, Generalized non-motor (absence) seizure, Seizure, Macro...	OMIM:277590
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Optic Atrophy 11	Seizure, Dysmetria, Hyperkinetic movements, Gait apraxia, Ataxia, Athetosis	OMIM:617302
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Farber Disease	Spasticity, Seizure, Infantile spasms, Myoclonus, Paraparesis	ORPHA:333
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Trem...	ORPHA:99956
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Seizure, Sinus bradycardia	OMIM:619482
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Epiphora, Cupped ear, Abnormality of cartilage of external ear	ORPHA:2399
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Glycogen Storage Disease Ii	Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa...	OMIM:232300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Chorea, Right bundle branch block, Abnormal EKG	ORPHA:268
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal hippocampus morphology, Focal-onset seizure, Overfolded helix, Lop ear, Microtia	ORPHA:436003
Frontonasal Dysplasia 2	Low-set ears, Decreased lacrimation, Encephalocele	OMIM:613451
Williams Syndrome	Involuntary movements, Spasticity, Low-set, posteriorly rotated ears, Gait imbalance, Tremor, Dys...	ORPHA:904
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Lower limb spasticity, Clonus, Bilateral tonic-clonic seizure, Myoclonic spasms...	ORPHA:447997
48,Xxxy Syndrome	Abnormal social behavior, Chronic otitis media, Seizure, Tremor	ORPHA:96263
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Benign Schwannoma	Abnormality of peripheral nervous system electrophysiology, Allodynia	ORPHA:252164
9P13 Microdeletion Syndrome	Myoclonus, Hand tremor	ORPHA:324313
Cholera	Tachycardia, Hypotension, Hypovolemic shock, Seizure	ORPHA:173
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Seizure, Bradycardia	ORPHA:79404
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Myoclonic seizure, Agenesis of corpus callosum, Sensorineural hearing impairment, T...	OMIM:619512
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Hypert...	OMIM:203700
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Tularemia	Tachycardia	ORPHA:3392
Young-Onset Parkinson Disease	Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Reduced social reciprocity, Dystonia	ORPHA:2828
Stuve-Wiedemann Syndrome 1	Low-set ears, Decreased lacrimation, Seizure	OMIM:601559
Joubert Syndrome With Hepatic Defect	Low-set ears, Occipital encephalocele, Seizure, Tremor, Oculomotor apraxia, Gait disturbance, Hyd...	ORPHA:1454
Developmental And Epileptic Encephalopathy 89	Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Neonatal death, Hyperkinetic moveme...	OMIM:619124
Leigh Syndrome	Spasticity, Involuntary movements, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy...	ORPHA:506
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Hallermann-Streiff Syndrome	Low-set ears, Recurrent pneumonia, Spina bifida, Bilateral tonic-clonic seizure, Choreoathetosis	OMIM:234100
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Alacrima, Cupped ear, Mixed hearing impairment, Conjunctivitis	OMIM:615560
Molybdenum Cofactor Deficiency, Type A	Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia	OMIM:252150
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Difficulty walking, Gait ataxia, Reduced social reciprocity, B...	ORPHA:457359
Holoprosencephaly 14	Low-set ears, Alobar holoprosencephaly, Hydrocephalus, Bilateral tonic-clonic seizure, Aqueductal...	OMIM:619895
Pitt-Hopkins Syndrome	Cupped ear, Seizure, Incoordination, Gait ataxia, Hypoplastic hippocampus, Thickened helices	OMIM:610954
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Seizure	ORPHA:348
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Alacrima, Hearing impairment, Ataxia	OMIM:615510
Tuberous Sclerosis 1	Epileptic spasm, Infantile spasms, Seizure, Wolff-Parkinson-White syndrome	OMIM:191100
Tsh-Secreting Pituitary Adenoma	Hypotension, Periodic hypokalemic paresis, Seizure, Congestive heart failure, Palpitations, Tremo...	ORPHA:91347
Gaucher Disease	Hearing impairment, Hepatitis, Osteomyelitis, Tremor, Abnormality of extrapyramidal motor functio...	ORPHA:355
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren...	OMIM:614700
Fg Syndrome Type 1	Broad-based gait, Cupped ear, Seizure, Sensorineural hearing impairment, Hydrocephalus, Abnormal ...	ORPHA:93932
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Broad-based gait, Typical absence seizure, Hearing impairment, Seizure, Febrile seizure (...	ORPHA:268261
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Kinsship Syndrome	Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure, Spastic tetra...	OMIM:619297
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	EEG with generalized sharp slow waves, Generalized non-motor (absence) seizure, EEG with spike-wa...	ORPHA:369837
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:252010
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Neonatal death, Pulmonary arterial hypertension, Bradycardia, Pulmonary ...	OMIM:614437
Pseudohypoparathyroidism Type 1A	Involuntary movements, Myoclonic spasms, Prolonged QT interval, Hypocalcemic seizures, Hypertensi...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms	ORPHA:79444
Kufor-Rakeb Syndrome	Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Hyperto...	ORPHA:306674
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Spasticity, Seizure, Sensorineural hearing impairment, Bilateral tonic-clonic seizu...	OMIM:301040
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, As...	OMIM:601104
Acute Intermittent Porphyria	Seizure, Pseudobulbar paralysis, Tremor, Respiratory paralysis, Tachycardia, Hypertension	ORPHA:79276
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Myoclonic seizure	OMIM:620469
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Myoclonic seizure, Multifocal seizures, Alacrima, Uplifted earlobe	OMIM:618548
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Truncal ataxia	OMIM:300243
Cogan Syndrome	Keratitis, Episcleritis, Sensorineural hearing impairment, Tinnitus, Scleritis, Inflammatory abno...	ORPHA:1467
Lacrimoauriculodentodigital Syndrome 3	Alacrima, Cupped ear, Hearing impairment, Microtia	OMIM:620193
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Low-set, posteriorly rotated ears, Lacrim...	ORPHA:138
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Prominent antihelix, Conductive hearing impairment, Seizure, Generalized non-motor (absence) seiz...	ORPHA:466943
D-Bifunctional Protein Deficiency	Low-set ears, Hearing impairment, Seizure, Gliosis, Bilateral tonic-clonic seizure	OMIM:261515
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Intellectual Disability-Alacrima-Achalasia Syndrome	Alacrima, Delayed early-childhood social milestone development	ORPHA:289483
Achalasia-Addisonianism-Alacrima Syndrome	Babinski sign, Alacrima, Ataxia	OMIM:231550
Cinca Syndrome	Hearing impairment, Sensorineural hearing impairment, Inflammatory abnormality of the eye, Retrob...	ORPHA:1451
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Low-set ears, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability t...	ORPHA:459070
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p...	OMIM:612199
Poliomyelitis	Hypovolemic shock, Hypotension, Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis, H...	ORPHA:2912
Opsoclonus-Myoclonus Syndrome	Rigidity, Myoclonus, Limb myoclonus, Ataxia	ORPHA:1183
Glycine Encephalopathy With Normal Serum Glycine	Low-set ears, Clonus, Hypertonia, Exaggerated startle response	OMIM:617301
Congenital Syphilis	Pneumonia, Keratitis, Hearing impairment, Seizure, Synovitis, Pancreatitis, Hydrocephalus, Myocar...	ORPHA:499009
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Hydranencephaly	Seizure, Hypoplastic hippocampus, Opisthotonus, Infantile sensorineural hearing impairment, Spast...	ORPHA:2177
Al Amyloidosis	Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy...	ORPHA:85443
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Interatrial Communication	Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ...	ORPHA:1478
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Seizure, Reduced social reciprocity, Infectious encephalitis, Sensorineural hearing impairment, D...	ORPHA:293987
Webb-Dattani Syndrome	Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
Lacrimoauriculodentodigital Syndrome	Low-set ears, Epiphora, Cupped ear, Conductive hearing impairment, Seizure, Sensorineural hearing...	ORPHA:2363
Lathosterolosis	Myoclonus, Seizure	ORPHA:46059
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Kilquist Syndrome	Low-set ears, Alacrima, Bilateral sensorineural hearing impairment	OMIM:619080
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	ORPHA:513456
Hartsfield Syndrome	Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum,...	OMIM:615465
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Myoclonic seizure, Conductive hearing impairment, Seizure, Gait ataxia, Bilater...	OMIM:280000
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar...	ORPHA:93672
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG	ORPHA:230
Tuberous Sclerosis 2	Epileptic spasm, Infantile spasms, Seizure, Wolff-Parkinson-White syndrome	OMIM:613254
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Alacrima, Conductive hearing impairment, Atresia of the external auditory canal, Conjunctivitis, ...	OMIM:106260
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Seizure, Infantile spasms, Hypertonia, Bilateral tonic-clonic seizur...	OMIM:301044
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Seizure, Abnormality of extrapyramidal motor fun...	ORPHA:909
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis	OMIM:617044
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Pulmonic stenosis	ORPHA:3426
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Myoclonic seizure, Recurrent pneumonia, Eczematoid dermatitis, Generalized non-...	OMIM:620330
Dyskeratosis Congenita, Autosomal Recessive 1	Epiphora	OMIM:224230
Lymphoproliferative Syndrome 2	EBV encephalitis, Recurrent pneumonia, Uveitis	OMIM:615122
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti...	ORPHA:728
Schinzel-Giedion Syndrome	Low-set ears, Spasticity, Abnormal helix morphology, Recurrent pneumonia, Alacrima, Seizure, Larg...	ORPHA:798
Aicardi-Goutières Syndrome	Low-set ears, Spasticity, Spastic paraparesis, Seizure, Extrapyramidal muscular rigidity, Difficu...	ORPHA:51
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Meningioma	Ataxia, Seizure, Hemifacial spasm, Abnormal central motor function, Hemiparesis, Syncope, Cerebra...	ORPHA:2495
Incontinentia Pigmenti	Spasticity, Keratitis, Seizure, Skin rash, Hemiplegia/hemiparesis, Infectious encephalitis, Gait ...	ORPHA:464
Chromosome 1P36 Deletion Syndrome, Proximal	Pulmonic stenosis, Dilated cardiomyopathy, Seizure, Wolff-Parkinson-White syndrome	OMIM:619343
Primary Hyperoxaluria	Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block	ORPHA:416
Sialuria	Hyperkinetic movements, Seizure	ORPHA:3166
Dihydropyrimidine Dehydrogenase Deficiency	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Large earlobe, Inability ...	ORPHA:1675
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Hearing impairment, Prominent antihelix, Bilateral tonic-clonic seizure,...	ORPHA:466950
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi...	OMIM:614921
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Oligoarthritis, Ir...	ORPHA:85436
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Focal motor seizure, Myoclonus, Generalized myoclonic seizure	ORPHA:3063
Deeah Syndrome	Low-set ears, Alacrima, Hearing impairment, Seizure	OMIM:619004
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Knee osteoarthritis, Oligoarthritis, Arthritis, Uveitis	ORPHA:85410
Localized Scleroderma	Seizure, Fasciitis, Esophagitis, Hashimoto thyroiditis, Arthritis, Focal impaired awareness seizu...	ORPHA:90289
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Alacrima, Seizure	OMIM:619005
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Sarcoidosis, Susceptibility To, 2	Bronchiectasis, Erythema nodosum, Uveitis	OMIM:612387
Dyskeratosis Congenita, X-Linked	Conjunctivitis, Epiphora, Blepharitis, Ataxia	OMIM:305000
Steinert Myotonic Dystrophy	Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri...	ORPHA:273
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Epiphora, Iridocyclitis, Arthritis, Bronchiectasis, Uveitis	OMIM:181000
Autoinflammation With Arthritis And Dyskeratosis	Punctate keratitis, Keratoconjunctivitis sicca, Thyroiditis, Uveitis	OMIM:617388
Oculodentodigital Dysplasia	Spasticity, Conductive hearing impairment, Seizure, Tetraparesis, Paraparesis, Ataxia, Abnormal p...	OMIM:164200
Renal Nutcracker Syndrome	Tachycardia, Syncope, Orthostatic hypotension	ORPHA:71273
Dyskeratosis Congenita, Digenic	Epiphora	OMIM:620040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Involuntary movements, Broad-based gait, Bilateral tonic-clonic seizure on awakening, Seizure, In...	ORPHA:438213
Pudendal Neuralgia	Allodynia	ORPHA:60039
Dextrocardia	T-wave inversion, Abnormal EKG	ORPHA:1666
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,...	OMIM:186580
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Joubert Syndrome 1	Ataxia, Oculomotor apraxia, Hemifacial spasm	OMIM:213300
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Spasticity, Seizure, Fasciculations, Myoclonus, Hypertonia	ORPHA:284339
Friedreich Ataxia 2	Congestive heart failure, Incoordination, Abnormal EKG, Concentric hypertrophic cardiomyopathy, B...	OMIM:601992
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Seizure, Eczematoid dermatitis, Generalized-onset seizure, Speech apraxia, Re...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Seizure, Eczematoid dermatitis, Generalized-onset seizure, Speech apraxia, Re...	ORPHA:363958
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Hippocampal malrotation, Recurrent otitis media, Underdeveloped tragus, Anteverted ...	OMIM:620654
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Tetraplegia, Seizure	OMIM:618278
Oliver Syndrome	Absent earlobe, Small earlobe, Bilateral tonic-clonic seizure	ORPHA:2920
Transketolase Deficiency	Conjunctivitis, Seborrheic dermatitis, Hearing impairment, Uveitis	ORPHA:488618
Generalized Pustular Psoriasis	Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis	ORPHA:247353
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements	ORPHA:93958
Scimitar Syndrome	Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block	ORPHA:185
Shigellosis	Pneumonia, Ulcerative colitis, Febrile seizure (within the age range of 3 months to 6 years), Per...	ORPHA:810
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak	ORPHA:36234
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Hemiparesis, Seizure, Wolff-Parkinson-White syndrome	ORPHA:369950
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Seizure, Osteomyelitis, Infectious enceph...	ORPHA:31204
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Alacrima, Congenital, Autosomal Dominant	Alacrima, Decreased lacrimation	OMIM:103420
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima	OMIM:300858
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he...	ORPHA:340
Rift Valley Fever	Hepatitis, Skin rash, Infectious encephalitis, Hemiparesis, Paralysis, Paraparesis, Decerebrate r...	ORPHA:319251
Isolated Congenital Alacrima	Conjunctivitis, Alacrima, Keratitis	ORPHA:91416
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Spinal Cord Injury	Allodynia	ORPHA:90058
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Generalized non-motor (absence) seizure, Seizure, Tremor, Sensorineural hearing imp...	OMIM:612474
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Sinusitis, Conjunctivitis, Chronic otitis media, Uveitis	OMIM:608710
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Seizure, Limb hypertonia, Hydrocephalus, Abnor...	ORPHA:401973
Apert Syndrome	Hearing impairment, Agenesis of corpus callosum, Abnormal morphology of the limbic system, Acne, ...	OMIM:101200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope	ORPHA:98849
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv...	ORPHA:32960
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, Arthritis, Ent...	ORPHA:85408
Cartilage-Hair Hypoplasia	Cardiomyopathy, Heart block	ORPHA:175
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Stüve-Wiedemann Syndrome	Lacrimation abnormality	ORPHA:3206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:505248
Tick-Borne Encephalitis	Tongue fasciculations, Generalized-onset seizure, Speech apraxia, Incoordination, Tremor, Hyperki...	ORPHA:297
Antiphospholipid Syndrome, Familial	Scleritis, Keratitis, Iritis	OMIM:107320
Persistent Hyperplastic Primary Vitreous	Epiphora	ORPHA:91495
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Incontinentia Pigmenti	Spasticity, Keratitis, Seizure, Maculopapular exanthema, Uveitis	OMIM:308300
Prader-Willi Syndrome Due To Translocation	Abnormal social behavior, Lateral ventricle dilatation, Seizure, Reduced social reciprocity	ORPHA:177907
Juvenile Xanthogranuloma	Uveitis, Blepharitis, Iritis	ORPHA:158000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Increased tear production, Skin rash,...	ORPHA:95455
Doors Syndrome	Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Myoclonus, Bilateral ...	ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Myoclonus, Seizure	OMIM:253280
Kabuki Syndrome 1	Low-set ears, Focal impaired awareness seizure, Lateral ventricle dilatation, Seizure, Hearing im...	OMIM:147920
Sotos Syndrome	Generalized myoclonic seizure, Chronic otitis media, Hearing impairment, Generalized non-motor (a...	ORPHA:821
Episodic Ataxia Type 1	Tip-toe gait, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis	ORPHA:37612
Helix Syndrome	Alacrima	OMIM:617671
Mowat-Wilson Syndrome	Spasticity, Broad-based gait, Conductive hearing impairment, Seizure, Recurrent otitis media, Ina...	ORPHA:2152
Acrofacial Dysostosis, Cincinnati Type	Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb spasticity, Vocal c...	OMIM:616462
Orofaciodigital Syndrome Type 2	Protruding ear, Conductive hearing impairment, Bilateral tonic-clonic seizure	ORPHA:2751
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Seizure, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Coli...	ORPHA:3261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Seizure, Episcleritis, Agenesis of corpus callosum, Scleritis, ...	ORPHA:2273
Tuberous Sclerosis Complex	Seizure, Epileptic spasm, Infantile spasms, Focal-onset seizure, Noncommunicating hydrocephalus, ...	ORPHA:805
Amoebic Keratitis	Scleritis, Anterior uveitis	ORPHA:67043
Bloom Syndrome	Pneumonia, Skin rash, Otitis media, Rhinitis, Cheilitis, Uveitis	ORPHA:125
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Low-set ears, Decreased lacrimation	ORPHA:572333
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Recurrent otitis media, Inab...	ORPHA:261537
Mowat-Wilson Syndrome	Cupped ear, Seizure, Recurrent otitis media, Large earlobe, Abnormal hippocampus morphology, Agen...	OMIM:235730
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Pauci-Immune Glomerulonephritis	Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ...	ORPHA:93126
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Recurrent otitis media, Inab...	ORPHA:261552
Smith-Lemli-Opitz Syndrome	Seizure, Hypertrophic cardiomyopathy, Hypertonia, Ventricular fibrillation, Hypertension	OMIM:270400
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Scleritis, Tubulointerstitial...	ORPHA:91500
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Seizure, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Mic...	OMIM:619522
Plague	Hypotension, Arrhythmia, Hematemesis, Tachycardia, Slurred speech	ORPHA:707
Primary Sclerosing Cholangitis	Hepatitis, Pancreatitis, Ulcerative colitis, Thyroiditis, Uveitis	ORPHA:171
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonic stenosis, Abnormal heart valve physiology	ORPHA:3384
Hepatoerythropoietic Porphyria	Scleritis, Keratoconjunctivitis, Seborrhoeic blepharitis, Recurrent bacterial skin infections	ORPHA:95159
Degcags Syndrome	Tachycardia, Pulmonary arterial hypertension, Vocal cord paralysis, Pulmonic stenosis	OMIM:619488
Hallermann-Streiff Syndrome	Uveitis	ORPHA:2108
Stickler Syndrome	Hearing impairment, Hemiplegia/hemiparesis, Sensorineural hearing impairment, Osteoarthritis, Chr...	ORPHA:828
Lacrimoauriculodentodigital Syndrome 1	Alacrima, Cupped ear, Hearing impairment, Mixed hearing impairment, Conjunctivitis, Microtia	OMIM:149730
Leprosy	Uveitis, Steppage gait, Iritis	ORPHA:548
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Uveitis	OMIM:221900
Congenital Erythropoietic Porphyria	Scleritis, Keratoconjunctivitis, Seborrhoeic blepharitis, Recurrent bacterial skin infections	ORPHA:79277
Cardiac-Urogenital Syndrome	Tachycardia	OMIM:618280
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Pulmonary arterial hype...	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 21.1 Data