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Gene: Scn1a MGI:98246

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type I, alpha
Synonyms:
Nav1.1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Scn1a mutations

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

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

The table below shows human diseases associated to Scn1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Failure to thrive, Inability to walk, Epileptic spasm, Bilateral tonic-clonic ... ORPHA:293181
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) ... ORPHA:1942
Migraine, Familial Hemiplegic, 3
Seizure OMIM:609634
Familial Or Sporadic Hemiplegic Migraine
EEG with generalized sharp slow waves, Tongue fasciculations, Involuntary movements, Facial paral... ORPHA:569

The table below shows human diseases predicted to be associated to Scn1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Long Qt Syndrome 15
Ventricular bigeminy, Seizure, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Pre... OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Myoclonic seizure, Bradycardia OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Jervell And Lange-Nielsen Syndrome
Seizure, Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Seizure, Syncope, Ventricular tachycardia, Bradycardia, Polymorphic ventricular tachycardia OMIM:611938
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
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
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
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
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
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
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality, Seizure DECIPHER:54
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality, Seizure DECIPHER:4
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
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
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Romano-Ward Syndrome
Seizure, Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia,... ORPHA:101016
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
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
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
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
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 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Epilepsy, Photogenic, With Spastic Diplegia And Impaired Intellectual Development
Photosensitive tonic-clonic seizure OMIM:226800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Megalencephaly With Dysmyelination
Spasticity, EEG with photoparoxysmal response, Seizure, Ataxia OMIM:249240
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Seizure, Bradycardia OMIM:617173
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... OMIM:613608
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progressive extrapyramidal mu... ORPHA:454887
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Spasticity, EEG abnormality, Seizure, Ataxia OMIM:619228
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Autism
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:607373
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features OMIM:611631
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Nathalie Syndrome
Abnormal EKG OMIM:255990
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... OMIM:616187
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia ORPHA:1182
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Palpitations, B... ORPHA:66529
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal im... ORPHA:599373
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:608636
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Bilateral tonic-clonic seizure, Torticollis, Dyst... OMIM:618425
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidi... OMIM:605407
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
Nathalie Syndrome
Arrhythmia ORPHA:2663
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Paresthesia, Low... ORPHA:98811
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Infantile Convulsions And Choreoathetosis
Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai... ORPHA:31709
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:614561
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Seizure, Bradycardia OMIM:617182
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617787
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Hypokinesia, Seizure, Akinesia, Myoclonus, Distal sensory impairm... OMIM:606693
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... OMIM:618587
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, EEG abnormality, Bilateral tonic-clonic seizure, Motor s... OMIM:617171
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
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 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior, Hyperactivity, Seizure ORPHA:436151
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spi... OMIM:614018
Sudden Cardiac Failure, Infantile
Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden ... OMIM:617222
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... OMIM:104290
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Tremor, Dysmetria, Babinski sign, Cachexia, Parkinsonism, Bilateral tonic-cl... OMIM:618093
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... OMIM:616421
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... OMIM:616139
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Seizure ORPHA:2151
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, EEG with continuous slow activity, Memory impairment,... ORPHA:275864
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300425
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Progressive extrapyramidal movement disorder, Generalized myoclonic seizure, Seizure, Cho... ORPHA:382
Developmental And Epileptic Encephalopathy 97
Seizure, Inability to walk, Epileptic spasm, Tremor, Hypsarrhythmia OMIM:619561
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten... ORPHA:308
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:611726
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Inability to walk, Chorea, Dystonia, Focal-onset seizure OMIM:618760
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Apnea, Generaliz... ORPHA:1949
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... OMIM:608105
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Seizure, Chorea, Focal-onset seizure, Ataxia, Dystonia, Paroxysmal dysk... OMIM:619150
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Seizure, Bradycardia OMIM:609924
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Action tre... OMIM:617665
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Seizure, Premature ventricular contraction, ... OMIM:212138
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wi... OMIM:616366
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Seizure, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure... OMIM:616230
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl... OMIM:500003
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Choreoathetosis, Familial Inverted
Seizure, Rigidity, Gait disturbance, Abnormal pyramidal sign, Progressive choreoathetosis OMIM:118750
Juvenile Huntington Disease
Broad-based gait, Seizure, Bradykinesia, Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, A... ORPHA:248111
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Short attention span, Hyperactivity DECIPHER:19
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure ORPHA:86814
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus, Generalized myoc... OMIM:616540
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Se... ORPHA:37553
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Seizure, Akinesia, Paresthesia, Cogwhee... ORPHA:97349
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... ORPHA:53583
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, EEG abnormality, Bilateral tonic-clonic se... OMIM:617836
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,... OMIM:617106
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impair... OMIM:300423
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Reduced social reciprocity, Social and occupatio... ORPHA:168782
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Spinocerebellar Ataxia Type 12
Hypokinesia, Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Park... ORPHA:98762
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, D... OMIM:619065
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Seizure, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR in... ORPHA:542306
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizur... OMIM:619605
Epilepsy, Progressive Myoclonic, 11
Seizure, Giant somatosensory evoked potentials, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Striatal Degeneration, Autosomal Dominant 1
Hypokinesia, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal... OMIM:213600
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Seizure, Bradycardia OMIM:616276
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Infantile spasms, Seizure OMIM:128200
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... OMIM:619402
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram... OMIM:607454
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Seizure, Chorea, Infantile spasms, Athetosis, Choreoathetosis OMIM:309541
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:620540
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... OMIM:610042
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Focal-onset seizure OMIM:602066
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Seizure, Congestive heart failure, Noncompaction cardiomyopathy, Prolonge... OMIM:610198
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Stat... ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, EEG abnormality, Bila... OMIM:614322
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to wa... ORPHA:330050
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s... OMIM:615362
Intellectual Developmental Disorder, Autosomal Dominant 46
Tonic seizure, Infantile spasms, Focal impaired awareness seizure, Seizure OMIM:617601
Timothy Syndrome
Atrioventricular block, Seizure, Pulmonary arterial hypertension, Ventricular tachycardia, Bradyc... OMIM:601005
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Dystonia 23
Arrhythmia, Myoclonus OMIM:614860
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Seizure, Inability to walk, Reduced social reciprocity, EEG abnormality,... OMIM:617820
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Failure to thrive, Crouch gait, Myoclonus... OMIM:620145
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Lower limb spas... ORPHA:100988
Developmental And Epileptic Encephalopathy 101
Myoclonus, Third degree atrioventricular block, Seizure, Bradycardia OMIM:619814
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Bradycardia, Cardiac arrest, Focal m... OMIM:618235
N-Acetylaspartate Deficiency
Broad-based gait, Seizure, Short attention span, Self-mutilation, Truncal ataxia, Unsteady gait, ... OMIM:614063
Developmental And Epileptic Encephalopathy 45
Hypsarrhythmia, Seizure, Ataxia OMIM:617153
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Myoclonus, Loss of ambulation, EEG abnormality, Ataxia OMIM:600143
Cardiomyopathy, Familial Hypertrophic, 7
Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parki... OMIM:613690
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Diminished movement, Involuntary movements, Limb myoclonus, Somatic sensory dysfunction, Progress... ORPHA:240103
Huntington Disease-Like 1
Involuntary movements, Abnormal posturing, Seizure, Hypokinesia, Incoordination, Chorea, Gait ata... ORPHA:157941
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Generalized tonic seizure, Focal tonic seizure, Dystonia, Athetosis OMIM:615473
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure... OMIM:301020
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
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Tonic seizure, Gait disturbance, Bil... OMIM:618090
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Reduced left ventricular ejection fraction, Elevated left ventricular end-di... OMIM:612201
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Migraine, Familial Hemiplegic, 1
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Failure to thrive, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizur... OMIM:619701
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Seizure, Inability to walk, Chorea, Decreased body weight, Rigidity, Abnormality of e... OMIM:617672
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, T... OMIM:620453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Seizure OMIM:615351
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Bilateral tonic-clon... ORPHA:2590
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Sinus tachycardia, Infantile spasms, Premature ventricular contrac... OMIM:620504
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis OMIM:609056
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Seizure, Left... OMIM:261740
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Seizure, Bradycardia OMIM:618815
Alternating Hemiplegia Of Childhood 2
Seizure, Hemiplegia, Tetraplegia, Ataxia, Status epilepticus, Dystonia, Episodic quadriplegia, Ch... OMIM:614820
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a... OMIM:617810
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Hypokinesia, Seizure, Generalized-onset seizure, Te... OMIM:300816
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Ceroid Lipofuscinosis, Neuronal, 11
EEG with generalized polyspikes, Generalized myoclonic seizure, Seizure, Ataxia OMIM:614706
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity, Seizure OMIM:618103
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Symmetrical Thalamic Calcifications
Arrhythmia, Seizure ORPHA:1314
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Seizure, Ataxia ORPHA:85338
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Focal impaired awareness seizure OMIM:617929
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di... ORPHA:363710
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... OMIM:620236
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, EEG abnormality, Ataxia, D... OMIM:617829
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Paroxysmal dyskinesia, Chorea OMIM:611031
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Seizure, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Spinocerebellar Ataxia 17
Broad-based gait, Seizure, Bradykinesia, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, D... OMIM:607136
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Ataxia OMIM:618709
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... ORPHA:168491
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3... OMIM:301008
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambulation, Clu... OMIM:256731
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Obesity, Action tremor, Dysmetria, Babinski ... ORPHA:93952
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation OMIM:613876
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Involuntary movements, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to... OMIM:617493
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements... OMIM:618497
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Seizure, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricula... OMIM:300952
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Myoclonic seizure, Oculogyric crisis, Seizure, Inability to walk, Epileptic spasm, Ch... OMIM:614254
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait OMIM:620317
Autoimmune Hypoparathyroidism
Prolonged QT interval, Myoclonic spasms, Ventricular arrhythmia, Abnormal left ventricular functi... ORPHA:36913
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Frontot... OMIM:600795
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Myotonic Dystrophy 2
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block OMIM:602668
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Hypokinesia, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Li... ORPHA:101150
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia OMIM:203740
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Motor stereotypy, Status ep... OMIM:239500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Seizure, Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fi... OMIM:616878
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation OMIM:613874
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, Bilateral tonic-clonic seizure, Dy... OMIM:613970
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Huntington Disease
Seizure, Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... OMIM:606703
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness,... ORPHA:79263
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Huntington Disease
Involuntary movements, Decreased body mass index, Seizure, Bradykinesia, Difficulty walking, Inab... ORPHA:399
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Myoclonus, Seizure, Ataxia OMIM:204500
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Generalized-onset seizur... OMIM:620066
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... ORPHA:726
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Phosphoserine Aminotransferase Deficiency
Apnea, Myoclonus, Seizure OMIM:610992
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Rasmussen Subacute Encephalitis
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitive impairment, ... ORPHA:1929
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Developmental And Epileptic Encephalopathy 58
Seizure, Inability to walk, Hypsarrhythmia, Motor stereotypy, Status epilepticus OMIM:617830
Mitochondrial Complex I Deficiency, Nuclear Type 28
Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal atax... OMIM:618249
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Seizure, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemipl... ORPHA:225147
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, EEG a... OMIM:606777
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Broad-based gait, Hand tremor, Bilateral tonic-clonic seizure OMIM:617862
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bradykinesia, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Nocturnal seizu... OMIM:619725
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Pseudobulbar paralysis, Appendicular spasticity, Bilateral tonic-clonic seizur... OMIM:617082
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Failure to thrive, Inability to walk, Epileptic spasm, Bilateral tonic-clonic ... ORPHA:293181
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Coenzyme Q10 Deficiency, Primary, 5
Seizure, Bradycardia OMIM:614654
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, EEG with spike-wa... ORPHA:64280
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Focal impaired awareness seizure, Seizure, Abnormal EKG, Infantile spasms,... ORPHA:480864
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Attention defi... ORPHA:98784
Developmental And Epileptic Encephalopathy 78
Spasticity, Cerebral palsy, Seizure, Inability to walk, Chorea, Status epilepticus OMIM:618557
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Decreased body weight, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Foca... OMIM:614559
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Lissencephaly 3
Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure OMIM:611603
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Seizure OMIM:616949
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... OMIM:608049
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Seizure, Parkinsonism OMIM:616413
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myoclonus, Rigidity,... OMIM:617282
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:616281
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Infantile spasms, Myoclonus, Reduced social recip... ORPHA:561854
Intellectual Developmental Disorder, X-Linked 72
Short stature, Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Pontocerebellar Hypoplasia, Type 2D
Seizure, Chorea, Appendicular spasticity, Clonus, Spastic tetraplegia OMIM:613811
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, Infantile spas... ORPHA:208447
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Seizure, Bradykinesia, Chorea, Myoclonus, Rigidity, Hyperkinetic moveme... ORPHA:13
Glut1 Deficiency Syndrome 2
Seizure, Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dysto... ORPHA:306682
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Folinic Acid-Responsive Seizures
Ataxia, Broad-based gait, Generalized myoclonic seizure, Seizure, Spastic tetraparesis, Difficult... ORPHA:79097
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Seizure OMIM:615228
Pontocerebellar Hypoplasia Type 4
Myoclonus, Seizure, Central apnea ORPHA:166063
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapy... ORPHA:53351
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski si... OMIM:600363
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Developmental And Epileptic Encephalopathy 40
Spasticity, Small for gestational age, Seizure, Myoclonus, Spastic tetraparesis, Choreoathetosis OMIM:617065
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168605
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Phenylketonuria
Seizure, Tremor, Lower limb spasticity, EEG abnormality, Ataxia ORPHA:716
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy OMIM:300495
Combined Oxidative Phosphorylation Deficiency 45
Cardiac arrest, Seizure OMIM:618951
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Huntington Disease-Like 3
Spasticity, Broad-based gait, Seizure, Extrapyramidal muscular rigidity, Chorea, Abnormality of e... ORPHA:157946
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Seizure, Cerebral palsy, Chorea, Babinski sign, Bilateral tonic-clonic seizure with g... OMIM:618451
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Seizure, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depr... ORPHA:90065
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Seizure, Hyperactivity ORPHA:356996
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Seizure, Inability to walk, Chorea, Gait ataxia, Abnormality... ORPHA:500180
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Head tremor, Myoclonus, Action tremor, Apraxia, Ataxia OMIM:620158
Mepan Syndrome
Hemidystonia, Spasticity, Failure to thrive, Chorea, Limb dystonia, Myoclonus, Axial dystonia, Cr... ORPHA:508093
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Huntington Disease-Like 3
Spasticity, Seizure, Chorea, Abnormality of extrapyramidal motor function, Unsteady gait, Abnorma... OMIM:604802
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Focal-onset seizure, Myoclonic spasms, Bradycardia, Multifocal seizures, Generalized myoclonic se... OMIM:614498
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619301
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620065
Hartnup Disorder
Seizure, Emotional lability, Generalized tonic seizure, Attention deficit hyperactivity disorder,... OMIM:234500
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... ORPHA:363558
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Apnea, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit... ORPHA:48818
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure with generali... OMIM:618559
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, EEG with generalized epileptiform discharges, Inappro... OMIM:619827
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms... ORPHA:485350
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Apnea, Seizure OMIM:618236
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-onset seizure, Seizure OMIM:226750
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Neonatal death, Bilateral tonic-clonic seizure, Dystonia, Spastic tetraplegia OMIM:618237
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block, Seizure OMIM:610131
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, EEG with... OMIM:612164
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, ... ORPHA:352582
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Seizure, Generalized dystonia, Inability to walk, Abnormal posturing, O... ORPHA:216866
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619302
Atrophoderma Vermiculata
Heart block ORPHA:79100
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Seizure, Tremor, Rigidity... OMIM:603472
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Hypokinesia, Postural tremor, Cogwheel rigid... OMIM:600116
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Seizure, Congestive heart failure, Bundle branch block, Hemi... ORPHA:466677
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Seizure, Rigidity, Loss of ambulation, Dystonia,... OMIM:615528
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Developmental And Epileptic Encephalopathy 47
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth... OMIM:617166
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic seizure with generaliz... OMIM:619028
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) ... ORPHA:1942
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,... ORPHA:464282
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Difficulty walking, Infantile spasms, Irritability, Tonic seizure, Nocturnal seizures, M... OMIM:617393
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Cdkl5-Deficiency Disorder
Difficulty walking, Bruxism, Inappropriate laughter, Infantile spasms, Stereotypical hand wringin... ORPHA:505652
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG ... ORPHA:529665
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, EE... OMIM:618718
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy OMIM:612069
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Ataxia OMIM:278780
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 8
Atrial fibrillation OMIM:613055
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Shuffling gait, Failure to thrive, Seizure, Gait ataxia, Intention tremor, Dysm... OMIM:617964
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Pyridoxine-Dependent Epilepsy
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Seizure, Bradycardia OMIM:614702
Developmental And Epileptic Encephalopathy 28
Ataxia, Spasticity, Hypokinesia, Seizure, Generalized non-motor (absence) seizure, Focal clonic s... OMIM:616211
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Apnea, Seizure ORPHA:209370
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Tortico... ORPHA:71517
Intellectual Developmental Disorder, Autosomal Recessive 57
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... OMIM:617188
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Bilateral tonic-clonic seizure, Wolff-Parkinson-White syndr... OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
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
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Dys... OMIM:618317
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:258501
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:614676
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Neurodevelopmental Disorder With Dystonia And Seizures
Seizure, Chorea, Dystonia, Athetosis, Spastic tetraplegia OMIM:619922
Spinocerebellar Ataxia Type 2
Fasciculations, Postural tremor, Chorea, Gait ataxia, Dystonia, Parkinsonism, Kinetic tremor, Pro... ORPHA:98756
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Seizure, Cardiomyopathy, Bradycardia OMIM:609286
Striatonigral Degeneration, Infantile
Dystonia, Failure to thrive, Choreoathetosis, Spasticity OMIM:271930
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE... ORPHA:313772
Glycine Encephalopathy 1
Seizure, Myoclonus, Death in infancy, Irritability, Aggressive behavior, Hyperactivity, Restlessn... OMIM:605899
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Motor stereotypy, Clonic seizure, Seizure OMIM:620033
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Seizure, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Chorea, Myoclonus, Gait ataxia, Dysmetria, Oculomotor apraxia, Ataxia, Dyston... ORPHA:251347
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Illum Syndrome
Bradycardia OMIM:208155
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Tonic seizure, Central apnea OMIM:611722
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Hypokinesia, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramida... ORPHA:238455
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia ORPHA:101078
Variegate Porphyria
Tachycardia OMIM:176200
Rett Syndrome
Prolonged QTc interval, Seizure, Abnormal T-wave OMIM:312750
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG w... ORPHA:254881
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Intention tre... OMIM:117360
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Sensory ataxia, Hypokinesia OMIM:618184
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... ORPHA:423
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
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Failure to thrive, Tetraparesis, Spastic tetraparesis, Myoclonus, Cogwheel rigidity, ... ORPHA:225154
Mitochondrial Dna Depletion Syndrome 17
Epilepsia partialis continua, Seizure, Chorea, Status epilepticus, Spastic tetraparesis, Hemiball... OMIM:618567
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Huntington Disease-Like 1
Incoordination, Chorea, Dysmetria, Rigidity, Unsteady gait OMIM:603218
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait ORPHA:369840
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Dysdiadochokinesi... ORPHA:98761
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa... OMIM:618012
Hsd10 Disease
Seizure, Myoclonus, Short attention span, Gait disturbance, Ataxia, Dysphagia, Abnormal social be... ORPHA:391417
Late-Infantile/Juvenile Krabbe Disease
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... ORPHA:206443
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Status epilepticus, Seizure, Atypical absence status ep... ORPHA:90068
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Limb myoclonus, Somatic sensory dysfunction, Postural tremor,... OMIM:619862
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Seizure, Interictal EEG abnormality, Emotional lability, Loss of ambulation, Motor st... ORPHA:79264
Hyperekplexia 1
Hypokinesia, Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Fr... OMIM:149400
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Myoclonus, Clonic seizure OMIM:617235
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis... OMIM:204200
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Focal EEG discharges w... ORPHA:3077
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Hemiparesis, Bilateral tonic-clonic seizur... OMIM:604317
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Failure to thrive, Generalized dystonia, Seizure, Inability to walk, Chorea, Ataxia ORPHA:70472
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Ataxia, Dementia, Semantic demen... ORPHA:1020
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor... ORPHA:3095
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... ORPHA:411986
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea... OMIM:617600
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... OMIM:618170
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr... ORPHA:300605
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action t... OMIM:607483
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Apnea, Dyspnea, Hyperventilation, Tachycardia OMIM:229700
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
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Spastic tetraplegia, Failure to thrive, Seizure, Inability to walk, Chorea, Hypertoni... OMIM:617864
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Hypokinesia, Seizure, Tremor, Babinski sign, Limb hypertonia, EEG abnormality,... ORPHA:35708
Moynahan Syndrome
Cachexia, Seizure ORPHA:2574
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysd... OMIM:614831
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Myoclonic seizure, Seizure, Cardiomyopathy, Infantile spasms, Apnea, Tonic ... OMIM:600721
Episodic Kinesigenic Dyskinesia 3
Involuntary movements, Dystonia, Choreoathetosis, Torticollis OMIM:620245
Spinocerebellar Ataxia Type 17
Blepharospasm, Ataxia, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Abnorma... ORPHA:98759
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, Tremor, Ataxia, Status e... OMIM:614307
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Seizure ORPHA:500545
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Seizure, Ataxia OMIM:300983
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Sneddon Syndrome
Tremor, Chorea, Seizure, Hemiparesis ORPHA:820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Dk1-Cdg
Dilated cardiomyopathy, Seizure, Congestive heart failure, Infantile spasms, Arrhythmia, Bilatera... ORPHA:91131
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
X-Linked Creatine Transporter Deficiency
Seizure, Chorea, Cachexia, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Isaacs Syndrome
Weight loss, Distal sensory impairment, Fasciculations ORPHA:84142
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Seizure, Stereotypical hand wringing ORPHA:397933
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Status epilepticus, Seizure, Bradycardia OMIM:619272
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Seizure, Gait ataxia, Cachexia, Weight loss, Status epilepticus OMIM:612075
Glutamine Deficiency, Congenital
Seizure, Bradycardia OMIM:610015
Pulmonary Blastoma
Weight loss ORPHA:64741
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Seizure, Akinesia, Generalized tonic seizure, Hypertonia, Spastic tetraplegia OMIM:619147
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Myoclonus, Seizure, Central hypoventilation OMIM:300673
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Seizure, Abnormality of somatos... ORPHA:320401
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Fraxe Intellectual Disability
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Impulsivity... ORPHA:100973
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms ORPHA:94089
Congenital Myopathy 9A
Tongue fasciculations, Akinesia OMIM:618822
Developmental And Epileptic Encephalopathy 46
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia OMIM:617162
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Spastic Paraplegia 86, Autosomal Recessive
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Inability to w... OMIM:619735
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Seizure, Congestive heart... ORPHA:137675
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin, Febrile seizure (within t... OMIM:609438
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Myoclonic seizure, Myoclonus, Seizure OMIM:618225
Unilateral Focal Polymicrogyria
Seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor sei... ORPHA:268947
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Generalized myoclonic seizure, Reduced social reciprocity, Attention deficit hyperactivity disord... ORPHA:137831
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Pelizaeus-Merzbacher Disease, Classic Form
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... ORPHA:280219
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Seizure, Bradycardia ORPHA:221098
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Hypokinesia, Ataxia OMIM:620007
Hyperekplexia 3
Apnea, Syncope, Myoclonus, Bilateral tonic-clonic seizure OMIM:614618
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... OMIM:613135
Severe Canavan Disease
Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seizure, Decerebrat... ORPHA:314911
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Myoclonic seizure, Failure to thrive, Chorea, Limb dystonia OMIM:616339
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Tetraparesis, Inability to walk, Epileptic spasm, Status epileptic... OMIM:617105
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Seizure OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Focal impaired awareness seizure, Inability to walk, Epileptic spasm, Short at... OMIM:619580
D-Glyceric Aciduria
Seizure, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Bradycardia, Status epi... OMIM:220120
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... OMIM:170390
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Abnormal posturing, Tremor OMIM:304700
Ethylene Glycol Poisoning
Hypotension, Seizure, Congestive heart failure, Shock, Myoclonus, Prolonged QT interval, Atrial f... ORPHA:31826
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Hypokinesia, Seizure, Inability to walk, Myoclonus, Dystonia, Clums... OMIM:617854
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb spasticity, Oculomo... OMIM:604391
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait OMIM:615031
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Diff... ORPHA:101077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Seizure, Spastic tetraparesis OMIM:619470
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Short attention span, Rec... ORPHA:449291
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Postural tremor, Chorea, Parkinsonism, Athetosis OMIM:615483
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Seizure, Bradykinesia, Tremor, Rigidity, Parkinsonism, Limb hypertonia... OMIM:261640
Acquired Methemoglobinemia
Seizure, Palpitations, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased motor nerve conduction velocity, Distal sensory impairment, Tremor, Babinsk... OMIM:609260
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:620292
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis OMIM:616291
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 months t... OMIM:620208
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism, Parkinsonism with fav... ORPHA:411602
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Spontaneous Periodic Hypothermia
Arrhythmia, Seizure ORPHA:29822
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Mental deterioration, Abnormal temper tantrums, EEG with generalized epileptiform dischar... ORPHA:163681
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Congestive heart failure, Left ventricular outflow t... OMIM:614980
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Gaucher Disease Type 2
Cardiac arrest, Generalized myoclonic seizure ORPHA:77260
Gitelman Syndrome
Hypotension, Seizure, Palpitations, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, Focal m... ORPHA:542310
Spinocerebellar Ataxia 47
Spasticity, Seizure, Chorea, Dysmetria, Ataxia OMIM:617931
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis ORPHA:231111
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Arthrogryposis Multiplex Congenita 6
Akinesia, Neonatal death OMIM:619334
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Hypoglycemic seizures, Tachycardia, Status ep... ORPHA:276556
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, ... OMIM:618877
Neuroectodermal Melanolysosomal Disease
Spasticity, Seizure, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Tremor, Rigidity, Ba... OMIM:606159
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Decreased motor nerve conduction velocity, Seizure, Intention tremor, Rigidi... OMIM:608804
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action potential ampl... ORPHA:457205
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy, Seizure ORPHA:66634
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Seizure, Slender build, Cachexia, Weight loss, Ataxia OMIM:613662
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Hypokinesia, Inability to walk, Limb dystonia, Tr... OMIM:617013
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Seizure ORPHA:94125
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ambulation, Oculomot... OMIM:208920
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Spastic tetraplegia, Failure to thrive, Seizure, Dystonia, Choreoathetosis OMIM:618238
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Myoclonic seizure, Status epilepticus, Seizure OMIM:610127
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Frequent... OMIM:159950
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... ORPHA:282166
Alexander Disease Type I
Spasticity, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, Ataxia, Palatal tremor ORPHA:363717
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Babins... ORPHA:363654
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Paraparesi... ORPHA:99014
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure,... OMIM:616672
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Seizure ORPHA:309246
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Myoclonus ORPHA:168593
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Seizure, Chorea, Gait ataxia, Lower limb spasticity, Waddling gait OMIM:620445
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Joubert Syndrome 9
Episodic tachypnea, Apnea, Seizure OMIM:612285
Sydenham Chorea
Chorea, Hemiballismus, Unsteady gait ORPHA:306731
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure OMIM:615282
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Myoclonic seizure, Right bundle branch block, Mitral regurgitation OMIM:619576
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... ORPHA:358
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, Scissor gait, ... ORPHA:521406
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Involuntary movements, Hypokinesia ORPHA:238329
Gaucher Disease, Perinatal Lethal
Hypokinesia, Seizure, Akinesia, Neonatal death, Opisthotonus OMIM:608013
Myopathy With Extrapyramidal Signs
Seizure, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsi... OMIM:615673
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Atrial fibrillation, Dilated cardiomyopathy OMIM:617912
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia, Seizure ORPHA:488635
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Neuroferritinopathy
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... ORPHA:157846
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction, Seizure ORPHA:54057
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Seizure OMIM:225790
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Bilateral tonic-cl... OMIM:619092
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Small for gestational age, Limb dystonia, Babinski sign, Torticollis, Ataxia, Frequent falls, Cho... OMIM:619054
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Bilateral tonic-clonic seizure, Overwe... ORPHA:457240
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Myoclonic seizure, Seizure, Tonic seizure, Pulmonary arterial hypertension, Prolonged QT interval... OMIM:620029
Joubert Syndrome 30
Tachypnea, Apnea, Seizure OMIM:617622
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Seizure, Difficulty walking, Abnormality of coordination, Myoc... ORPHA:442835
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Seizure OMIM:300352
2Q24 Microdeletion Syndrome
Central apnea, Seizure ORPHA:1617
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Pontocerebellar Hypoplasia, Type 2B
Spasticity, Myoclonic seizure, Seizure, Chorea, Opisthotonus, Tonic seizure, Babinski sign, Clonu... OMIM:612389
Spinocerebellar Ataxia Type 1
Bradykinesia, Fasciculations, Postural tremor, Chorea, Gait imbalance, Dysmetria, Impaired propri... ORPHA:98755
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:234200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Seizure OMIM:610006
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia OMIM:618387
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Hypokinesia, Myoclonus, Rigidity, Loss of ambulation, Dystonia, P... OMIM:168601
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Hypoglycemic seizures, Tachycardia, Status ep... ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 1
Spasticity, Hypertonia, Hypokinesia, Seizure OMIM:609060
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Shukla-Vernon Syndrome
Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Motor s... OMIM:301029
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Seizure, Bradycardia OMIM:617397
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Seizure ORPHA:320385
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Mahvash Disease
Palpitations OMIM:619290
Lopes-Maciel-Rodan Syndrome
Spasticity, Seizure, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unstead... OMIM:617435
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Seizure, Bradycardia OMIM:610768
Dpagt1-Cdg
Seizure, Inability to walk, Epileptic spasm, Akinesia, EEG with generalized slow activity, Tremor... ORPHA:86309
Tubulinopathy-Associated Dysgyria
Infantile spasms, Startle-induced seizure, Generalized non-motor (absence) seizure ORPHA:467166
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Episodic hypertension, Central hypoventilation OMIM:619483
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Chorea, Benign Familial
Chorea OMIM:215450
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Glycosylphosphatidylinositol Biosynthesis Defect 17
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t... OMIM:618010
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death, Seizure ORPHA:156
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Weight loss, Apr... OMIM:137440
Muscular Hypertonia, Lethal
Hypokinesia, Hypertonia OMIM:254120
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Spasticity, Involuntary movements, Limb hypertonia, Ataxia, Dystonia, Multifocal seizures, Status... OMIM:615905
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hypoglycemic seizures, Prolonged QT interval, Dilated cardiomyopathy ORPHA:71212
Leukodystrophy, Hypomyelinating, 6
Spasticity, Seizure, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Seizure, Short attention span, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620242
Familial Isolated Hypoparathyroidism
Arrhythmia, Seizure ORPHA:2238
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Myoclonic seizure, Status epilepticus, Seizure ORPHA:168486
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Hypoglycemic seizures, Tachycardia, Status ep... ORPHA:276580
Fetal Akinesia Syndrome, X-Linked
Hypokinesia, Stillbirth OMIM:300073
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Seizure, Difficulty walking, Inability to walk, Limb a... OMIM:617695
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Abnormal EKG ORPHA:268
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dystonia, Rigidity, Parkinso... OMIM:609454
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
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... OMIM:180800
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Central hypoventilation, Hypertrophic cardiomyopathy, Left ventricular noncompaction car... OMIM:620167
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure ORPHA:459074
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia OMIM:183050
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Broad-based gait, Seizure, Inappropriate laughter, Abnormal... ORPHA:98794
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Seizure, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyramidal si... OMIM:308350
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Benign Paroxysmal Torticollis Of Infancy
Ataxia, Abnormal head movements, Irritability ORPHA:71518
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Leukodystrophy, Hypomyelinating, 4
Apnea, Seizure OMIM:612233
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
Sulfite Oxidase Deficiency, Isolated
Ataxia, Generalized dystonia, Hemiplegia, Hypertonia, Bilateral tonic-clonic seizure, Choreoathet... OMIM:272300
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:618354
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, EEG with genera... OMIM:300055
Pontocerebellar Hypoplasia Type 2
Seizure, Infantile spasms, Apnea, Bilateral tonic-clonic seizure with generalized onset, Simple f... ORPHA:2524
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... OMIM:612949
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... OMIM:601104
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Birk-Aharoni Syndrome
Inability to walk, Spastic tetraplegia, Chorea, Failure to thrive OMIM:620071
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome OMIM:618234
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Myoclonic seizure, Focal-onset seizure, Generalized non-motor (absence... OMIM:620166
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Seizure ORPHA:276608
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hyp... OMIM:272750
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Abnormal posturing, Seizure, Pseudobulbar paralysis, ... ORPHA:268943
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, EEG with temporal focal spikes, Hypertonia, Exaggerated startle respon... ORPHA:163985
Developmental And Epileptic Encephalopathy 64
Seizure, Inability to walk, Chorea, Paroxysmal dystonia, Hemiparesis, Limb hypertonia, Dystonia, ... OMIM:618004
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Ataxia OMIM:620270
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:618378
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Central Diabetes Insipidus
Weight loss, Failure to thrive, Seizure ORPHA:178029
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... OMIM:610185
Cystathioninuria
Tremor, Seizure ORPHA:212
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Myoclonic seizure, Tetraparesis, Antalgic gait, Tremor, Tonic seizure OMIM:620546
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Tremor, Hemiparesis, Apraxia, Bilateral toni... OMIM:602481
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Seizure, Holosystolic mur... ORPHA:1677
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Infantile spasms, Seizure OMIM:619797
Pontocerebellar Hypoplasia, Type 6
Generalized-onset seizure, Apnea, Seizure OMIM:611523
Nicolaides-Baraitser Syndrome
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:3051
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Metachromatic Leukodystrophy
Seizure, Chorea, Babinski sign, Gait disturbance, Tetraplegia, Ataxia, Dystonia, Spastic tetraplegia OMIM:250100
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, EEG abnormality, Ataxia, Motor stereotypy, Choreoathe... OMIM:618218
Mantle Cell Lymphoma
Weight loss ORPHA:52416
3-Methylglutaconic Aciduria, Type Ix
Spasticity, Failure to thrive, Seizure, Epileptic spasm, Clonus, Hypertonia, Choreoathetosis OMIM:617698
Saccharopinuria
Seizure, Gait ataxia, Tremor, Distal sensory impairment, Spastic diplegia ORPHA:3124
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis OMIM:118800
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Abnormal peripheral action p... ORPHA:90117
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Seizure, Generalized non-motor (absence) seizure, Inability to walk, Chorea, ... OMIM:300260
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Compulsive behaviors, Attention deficit hyperactivity disorder, Recurrent hand flapping, Seizure OMIM:620021
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ... OMIM:608643
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ... OMIM:302800
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea, Seizure ORPHA:137754
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Dysmetria, Abnormal pyramidal sign, Ataxia, Intention tremor ORPHA:48431
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Friedreich Ataxia
Spasticity, Falls, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dysmetr... ORPHA:95
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Somatic sensory dysfunction, Pseudobulbar paralysis, Hemiparesis, Rigidity, Spastic a... ORPHA:199354
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Developmental And Epileptic Encephalopathy 110
Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Myoclonic seizure, Seizure, Inability to walk, Bilateral tonic-clonic seizure OMIM:615716
20P12.3 Microdeletion Syndrome
Seizure, Wolff-Parkinson-White syndrome ORPHA:261295
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea OMIM:613869
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Hypoadrenocorticism, Familial
Apnea, Seizure OMIM:240200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy,... ORPHA:927
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
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage, Seizure ORPHA:624
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
4H Leukodystrophy
Seizure, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Kcnq2-Related Epileptic Encephalopathy
Epileptic spasm, Apnea, Generalized tonic seizure, Seizure ORPHA:439218
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Encephalitis Lethargica
Seizure, Bradycardia ORPHA:83600
Pelizaeus-Merzbacher Disease
Spasticity, Seizure, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Dystonia, ... ORPHA:702
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:616719
Ravine Syndrome
Apnea ORPHA:99852
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Myopathy, Distal, Tateyama Type
Palpitations OMIM:614321
Severe Intellectual Disability And Progressive Spastic Paraplegia
Seizure, Difficulty walking, Excessive shyness, Motor stereotypy, Waddling gait ORPHA:280763
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
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Seizure, Central hypoventilation OMIM:618233
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Seizure OMIM:614883
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Seizure, Ventricular tachycardia OMIM:600649
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykin... ORPHA:70594
Alg11-Cdg
Hypokinesia, Seizure, EEG with burst suppression, Opisthotonus, Limb hypertonia, Hypertonia, Ataxia ORPHA:280071
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death OMIM:301021
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Focal myoclonic seizure, Seizure, Loss of ambulation, Babinski s... ORPHA:3208
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... OMIM:118300
Pontocerebellar Hypoplasia, Type 16
Apnea, Seizure OMIM:619527
Congenital Sialidosis Type 2
Telangiectasia, Myoclonus, Seizure, Abnormal EKG ORPHA:93400
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Tetraparesis, Fasciculations, Postural tremor, ... OMIM:615491
Jaberi-Elahi Syndrome
Broad-based gait, Failure to thrive, Inability to walk, Gait ataxia, Tremor, Dysmetria, Appendicu... OMIM:617988
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... OMIM:183090
Fabry Disease
Atrioventricular block, Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle br... ORPHA:324
Fetal Akinesia Deformation Sequence
Akinesia, Hypokinesia ORPHA:994
Beck-Fahrner Syndrome
Depression, Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, EEG ab... OMIM:618798
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Seizure, Abnormal T-wave, ST segment dep... ORPHA:466650
Hyperprolinemia Type 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... ORPHA:79101
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Status epilepticus OMIM:613870
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Myocardial infarction, Pulmonic ste... ORPHA:500
Rett Syndrome
Seizure, Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait distur... ORPHA:778
Idiopathic Achalasia
Weight loss ORPHA:930
Developmental And Epileptic Encephalopathy 84
Spasticity, Seizure, Epileptic spasm, Chorea, Opisthotonus, Babinski sign, Dystonia OMIM:618792
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Allan-Herndon-Dudley Syndrome
Spasticity, Decreased body mass index, Small for gestational age, Spastic tetraplegia, Seizure, F... ORPHA:59
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Seizure, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, F... ORPHA:488613
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia OMIM:618775
Periventricular Nodular Heterotopia 7
Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:617201
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Seizure, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618825
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis ORPHA:228410
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619877
Nasu-Hakola Disease
Spasticity, Oculomotor apraxia, Chorea, Seizure ORPHA:2770
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Seizure, Cardiomyopathy OMIM:249270
Fatty Acid Hydroxylase-Associated Neurodegeneration
Falls, Generalized dystonia, Progressive spastic paraplegia, Progressive spastic paraparesis, Los... ORPHA:329308
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Tachycardia, Syncope, Palpitations ORPHA:324575
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Seizure, Ataxia, Dystonia, Frequent falls, Choreoathetosis OMIM:618416
Combined Oxidative Phosphorylation Defect Type 39
Seizure, Bradycardia ORPHA:565624
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S... OMIM:614104
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Autism Spectrum Disorder Due To Auts2 Deficiency
Seizure, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity,... ORPHA:352490
Methanol Poisoning
Seizure, Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracran... ORPHA:31825
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Apnea, Myoclonus, Seizure OMIM:614462
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620502
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Seizure, Respiratory distress, Epileptic spasm, Apnea, Myoclonus, Hypoventilation, Bilateral toni... ORPHA:314655
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Metachromatic Leukodystrophy, Juvenile Form
Seizure, Progressive psychomotor deterioration, Decreased nerve conduction velocity, Short attent... ORPHA:309263
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Dysdiadochokinesis, Seizure, Bradykinesia, Chorea, Gait ataxia, Dysmetria, Babinski s... OMIM:610217
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Right bundle branch block OMIM:619322
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:620655
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Limb ... ORPHA:363400
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Seizure ORPHA:1933
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Atonic se... ORPHA:95232
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Seizure OMIM:618226
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc... OMIM:618060
Phenylketonuria
Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera... OMIM:261600
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:619983
Waisman Syndrome
Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism ... OMIM:311510
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Seizure OMIM:618590
Infantile Refsum Disease
Arrhythmia, Seizure, Cardiomyopathy ORPHA:772
Spinocerebellar Ataxia Type 13
Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradyk... ORPHA:98768
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Lethal Congenital Contracture Syndrome 8
Death in infancy, Oral-pharyngeal dysphagia, Neonatal death OMIM:616287
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awar... OMIM:618325
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure ORPHA:309155
Nabais Sa-De Vries Syndrome, Type 2
Seizure, Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia OMIM:618829
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Pelizaeus-Merzbacher Disease
Ataxia, Spastic paraplegia, Broad-based gait, Failure to thrive, Seizure, Generalized dystonia, I... OMIM:312080
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Alternating Hemiplegia Of Childhood
Failure to thrive, Seizure, Tetraparesis, Episodic hemiplegia, Chorea, Tremor, Rigidity, Abnormal... ORPHA:2131
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Combined Oxidative Phosphorylation Defect Type 23
Seizure, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular... ORPHA:444013
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Dystonia, S... ORPHA:79243
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Inability to walk, Tremor, Hypertonia, Ataxia OMIM:619556
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:619566
Xq28 (MECP2) duplication
Depression, Seizure, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, In... OMIM:300912
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Hyperventilation, Apnea, Seizure OMIM:617903
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Neonatal death, Death in adolescence, Stillbirth, Dysphagia OMIM:619751
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Hypokinesia OMIM:619063
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Seizure, Progressive psychomotor deterioration, Difficulty walking... ORPHA:309271
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exagger... OMIM:618056
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Chorea, Parest... OMIM:164400
Pontocerebellar Hypoplasia, Type 2A
Seizure, Chorea, Opisthotonus, Dystonia, Extrapyramidal dyskinesia OMIM:277470
Riboflavin Transporter Deficiency
Seizure, Myoclonus, Tremor, Cachexia, Ataxia ORPHA:97229
Intellectual Developmental Disorder, Autosomal Dominant 67
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors OMIM:619927
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Seizure, Neonatal death OMIM:617184
D-Glyceric Aciduria
Spasticity, Chorea, Myoclonus, Seizure ORPHA:941
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:607734
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Seizure, Pulmonic stenosis ORPHA:529962
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Lacunar stroke, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmia OMIM:611773
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... OMIM:210000
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618504
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Seizure, Reduced social reciprocity, Diminished ability to concentrate, Attent... OMIM:615656
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Myopathy 12
Akinesia OMIM:612540
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure ORPHA:49827
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Right ventricular failure, Central apnea ORPHA:70589
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Seizure, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic move... OMIM:615356
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Seizure, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior ORPHA:530983
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia ORPHA:306669
Rett Syndrome, Congenital Variant
Seizure, Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, EEG abnormality, At... OMIM:613454
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Seizure, Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis OMIM:312170
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Tremor, Rigidity, Atax... ORPHA:25
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Generalized-onset seizure, Supraventricular ta... OMIM:300855
Brown-Vialetto-Van Laere Syndrome 2
Clumsiness, Tongue fasciculations, Hypokinesia, Ataxia OMIM:614707
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Congenital Myopathy 14
Apnea OMIM:618414
Pseudo-Torch Syndrome 3
Apnea, Hypertension, Seizure, Cerebral hemorrhage OMIM:618886
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Apnea OMIM:618228
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinski sign, Steppage gai... OMIM:616505
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxi... ORPHA:228402
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... OMIM:618342
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Chorea, Choreoathetosis, Hemiplegia/hemiparesis ORPHA:289916
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Torticoll... OMIM:604290
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... ORPHA:99750
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:619422
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs, Reduced s... ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Tachycardia, Seizure OMIM:619737
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Seizure, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapp... ORPHA:411511
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615501
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Arrhythmia, Seizure, Congestive heart failure ORPHA:1194
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Chorea, Febrile seizure (within the age range of 3 months to 6 years) OMIM:620535
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hypertonia, Hand tremor OMIM:618947
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Focal-o... ORPHA:395
Propionic Acidemia
Cardiomyopathy, Seizure, Apnea, Cerebellar hemorrhage, Tachypnea OMIM:606054
Christianson Syndrome
Generalized-onset seizure, Gait ataxia, Cachexia, Truncal ataxia, Dystonia ORPHA:85278
Migraine, Familial Hemiplegic, 3
Seizure OMIM:609634
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Spasticity, Failure to thrive, Seizure, Incoordination, Clonus, Tetrap... OMIM:616034
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... OMIM:612953
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Intention tremor, Babinski sign, Dysdiadochokinesis, Choreoathetosis ORPHA:98890
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Schimke Syndrome
Spasticity, Choreoathetosis OMIM:312840
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis ORPHA:99745
Mohr-Tranebjaerg Syndrome
Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentials, Inability t... ORPHA:52368
Canavan Disease
Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:271900
Kearns-Sayre Syndrome
Arrhythmia, Seizure, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Joubert Syndrome 33
Apnea OMIM:617767
Sepsis In Premature Infants
Tachycardia, Hypotension, Seizure, Bradycardia ORPHA:90051
Hec Syndrome
Arrhythmia, Cardiomyopathy ORPHA:2119
Intellectual Developmental Disorder, Autosomal Dominant 51
Fixated interests, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand ... OMIM:617788
Fructose-1,6-Bisphosphatase Deficiency
Seizure, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes... ORPHA:348
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Seizure, Impaired vibration sensation in the lower limbs, Abnormal sensory ne... ORPHA:88628
Pyruvate Dehydrogenase Deficiency
Spasticity, Seizure, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, D... ORPHA:765
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Ataxia, Dystonia... OMIM:618321
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Status epilepticus, Seizure OMIM:618253
Stiff-Person Syndrome
Tachycardia, Hypertension, Myoclonic spasms OMIM:184850
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Choreoathetosis, Spasticity OMIM:614249
Lujo Hemorrhagic Fever
Hypotension, Seizure, Shock, Bilateral tonic-clonic seizure, Bradycardia, Myocarditis, Subconjunc... ORPHA:319213
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Marshall-Smith Syndrome
Premature ventricular contraction, Pulmonary arterial hypertension, Hypertension OMIM:602535
Sialidosis Type 1
Seizure, Decreased nerve conduction velocity, Myoclonus, Tremor, Gait disturbance, EEG abnormalit... ORPHA:812
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Mcleod Syndrome
Dilated cardiomyopathy, Seizure, Cardiomyopathy, Generalized-onset seizure, Atrial fibrillation OMIM:300842
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Seizure, Inability to walk, Decreased nerve conduction... OMIM:218000
Nipah Virus Disease
Tremor, Myoclonus, Seizure ORPHA:99825
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Atonic ... ORPHA:79351
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... ORPHA:93958
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Fatigable weakness, Bilateral tonic-clonic seizure, Febrile s... ORPHA:42
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Leber Optic Atrophy
Arrhythmia OMIM:535000
Ritscher-Schinzel Syndrome 4
Chorea, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Focal-onset seizure OMIM:619435
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Fragile X Syndrome
Abnormal head movements, Seizure, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Chronic Hiccup
Weight loss ORPHA:396
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms ORPHA:79444
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Seizure ORPHA:163961
Mercury Poisoning
Tachycardia, Hypotension, Hypertension, Seizure ORPHA:330021
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Dysmetria, Babinski sign, Abnormal ... ORPHA:459056
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Failure to thrive, Incoordination, Chorea, Myoclonus, Intention tre... ORPHA:209905
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur... ORPHA:457351
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Inability to w... OMIM:619229
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Increased left ventricular end-diast... OMIM:620067
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Failure to thrive, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-cl... ORPHA:255210
Optic Atrophy 11
Seizure, EEG with focal sharp waves, Stereotypical body rocking, Dysmetria, Attention deficit hyp... OMIM:617302
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, Seizure ORPHA:397744
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Early Infantile Epileptic Encephalopathy
Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age ran... ORPHA:1934
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia OMIM:616298
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Motor stereotypy, Hypsarrhythmia, Hyperactivity, Bi... ORPHA:447997
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
Hereditary Coproporphyria
Tachycardia, Seizure ORPHA:79273
Peroxisome Biogenesis Disorder 6A (Zellweger)
Seizure, Neonatal death OMIM:614870
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Seizure, Cardiomyopathy ORPHA:228305
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Head-banging, Seizure, Onychotillomania, Self-mutilation, Hyp... OMIM:182290
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617808
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Seizure, Positive Romberg sign, Myoclonus, Dysmetria, Babinski sign, Weight l... OMIM:301310
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, Failure to thrive, Focal myoclonic seizure, Seizure, Difficulty walking, Inability to... ORPHA:481152
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Seizure, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Focal myoclonic seizure, Seizure, Pulmonary arte... ORPHA:369929
Hsd10 Mitochondrial Disease
Spastic tetraplegia, Spasticity, Choreoathetosis, Seizure OMIM:300438
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Seizure, Arrhythmia, Ventricular tachycardia, Sudden episodic apnea ORPHA:159
African Trypanosomiasis
Involuntary movements, Somatic sensory dysfunction, Seizure, Fasciculations, Difficulty walking, ... ORPHA:3385
Flynn-Aird Syndrome
Cachexia, EEG abnormality, Seizure ORPHA:2047
Biotinidase Deficiency
Seizure, Respiratory distress, Infantile spasms, Apnea, Bilateral tonic-clonic seizure, Hypervent... ORPHA:79241
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Myoclonic seizure, Seizure, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Infantile spasms, Seizure OMIM:608093
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss ORPHA:98897
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Parkinso... OMIM:619653
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Seizure, Wolff-Parkinson-White syndrome OMIM:601338
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Small for gestational age, Bilateral tonic-clonic seizure, Impaired tactile s... ORPHA:453510
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Seizure ORPHA:79644
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Apnea, Seizure, Apneic episodes in infancy OMIM:618222
48,Xxyy Syndrome
Apnea, Seizure ORPHA:10
Sialidosis Type 2
Tremor, Seizure, Ataxia ORPHA:87876
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia, Seizure OMIM:620475
Congenital Disorder Of Glycosylation, Type Iu
Hypokinesia, Seizure OMIM:615042
Snijders Blok-Campeau Syndrome
Broad-based gait, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, ... OMIM:618205
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615398
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Photosensitive myoclonic seizure, Tremor, Gait disturbance, Hypertonia ORPHA:1192
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Failure to thrive, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hypertonia ORPHA:544503
Cimdag Syndrome
Spasticity, Seizure, Chorea, Ataxia, Dystonia OMIM:619273
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon... ORPHA:99027
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Seizure OMIM:618347
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy,... OMIM:616973
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Mulibrey Nanism
Cachexia ORPHA:2576
Fabry Disease
Seizure, Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypert... OMIM:301500
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Seizure, Aggressive behavior, Hyperactivity, Compulsive beha... OMIM:619467
Choreoacanthocytosis
Mental deterioration, Emotional lability, Hair-pulling, Loss of ambulation, Dysphagia, Socially i... ORPHA:2388
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Seizure OMIM:210200
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Seizure, Recurrent hand flapping, Aggressive behavior, Attention deficit... OMIM:300986
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Reduced social reciprocity ORPHA:163976
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Seizure, Inability to walk, Tremor, Dystonia, Choreoathetosis OMIM:617664
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Dystonia, Failure to thrive, Seizure ORPHA:79312
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Generalized-onset seizure, Status epilepticus ORPHA:564178
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia OMIM:613205
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet... OMIM:300623
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Seizure, Decreased nerve conduction velocity, Gait ataxia, Emotional lability, Prog... ORPHA:309256
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea OMIM:618198
Orthostatic Hypotension 1
Atrial fibrillation, Orthostatic hypotension, Seizure OMIM:223360
Nemaline Myopathy 2
Apnea OMIM:256030
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Potocki-Lupski Syndrome
Seizure, Oral-pharyngeal dysphagia, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:610883
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome OMIM:619705
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypocalcemic seizures, Hypertension, Myoclonic spasms ORPHA:79443
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Ventricular fibrillation, Hypertension, Seizure OMIM:270400
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Spasticity, Seizure, Slender build, Myoclonus, Babinski sign, Bilateral tonic... ORPHA:364028
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Seizure, Inability to walk, Chorea, Ataxia, Dystonia OMIM:617804
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Apnea OMIM:616896
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Seizure OMIM:261680
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s... OMIM:151100
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Lower limb hypertonia OMIM:169400
Cri-Du-Chat Syndrome
Difficulty walking, Oppositional defiant disorder, Short attention span, Overfriendliness, Self-m... OMIM:123450
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Refsum Disease
Cardiomyopathy, Heart block ORPHA:773
Congenital Myopathy 11
Apneic episodes in infancy OMIM:619967
Snijders Blok-Fisher Syndrome
Opisthotonus, Spasticity, Choreoathetosis, Seizure OMIM:618604
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Myoclonus, Hypsarrhythmi... OMIM:300672
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Inability to walk, Focal-onset seizure, Motor stereotypy, Interictal epileptiform activi... OMIM:617802
Ataxia-Telangiectasia
Spasticity, Seizure, Tremor, Gait disturbance, Ataxia ORPHA:100
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
Pulmonary Arteriovenous Malformation
Epistaxis, Seizure, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Is... ORPHA:2038
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Right bundle branch block, Seizure, Congestive heart failure OMIM:617403
Epilepsy, Progressive Myoclonic, 10
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni... OMIM:616640
American Trypanosomiasis
Myocarditis, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:3386
Leigh Syndrome
Spasticity, Involuntary movements, Failure to thrive, Seizure, Chorea, Infantile spasms, Abnormal... ORPHA:506
Alexander Disease
Spasticity, Failure to thrive, Seizure, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraple... ORPHA:58
Holocarboxylase Synthetase Deficiency
Weight loss, Seizure, Ataxia ORPHA:79242
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Seizure, Apnea, Hypoventilation, Sinus bradycardia OMIM:619482
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Tremor, Hyperkinetic movements, Gait disturbance OMIM:300957
Joubert Syndrome
Episodic tachypnea, Apnea, Abnormal pattern of respiration, Seizure ORPHA:475
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Seizure OMIM:600430
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, EEG with generalized slow activity ORPHA:397612
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Bilateral Polymicrogyria
Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms, Spastic hemiparesis... ORPHA:268940
Tenorio Syndrome
Apnea, Syncope, Raynaud phenomenon, Seizure OMIM:616260
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Seizure, Failure to thrive in infancy, Inability to walk, Cachexia, Hypertonia OMIM:616801
Sneddon Syndrome
Hemiplegia, Tremor, Impaired distal tactile sensation, Seizure OMIM:182410
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Failure to thrive, Generalized non-motor (absence) seizure, Inability ... ORPHA:404454
Coach Syndrome 2
Apneic episodes in infancy, Hypertension OMIM:619111
Nmda Receptor Encephalitis
Memory impairment, Depression, Seizure, Generalized-onset seizure, Confusion, Choreoathetosis, Sh... ORPHA:217253
Sandhoff Disease
Spasticity, Myoclonic seizure, Fasciculations, Impaired temperature sensation, Bilateral tonic-cl... OMIM:268800
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Babinski sign, Clonus, Limb hypertonia, Bilateral tonic-clonic seizure,... ORPHA:423479
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Overfriendliness, Attention deficit hyperactivity disorder, M... OMIM:619293
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton... OMIM:617281
Combined Oxidative Phosphorylation Deficiency 21
Seizure, Neonatal death OMIM:615918
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Porphyria, Acute Intermittent
Tachycardia, Hypertension, Seizure OMIM:176000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic... OMIM:615474
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Seizure, Progressive spastic quadriplegia, Dystonia, Choreoathetosis, Nonprogr... ORPHA:431361
Erythermalgia, Primary
Palpitations OMIM:133020
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Spastic tetraplegia, Myoclonic seizure, Small for gestational age, Failure to thrive, Generalized... OMIM:620024
Fatal Familial Insomnia
Weight loss, Myoclonus, Ataxia OMIM:600072
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Proximal 16P11.2 Microdeletion Syndrome
Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Motor stereotypy, ... ORPHA:261197
Wieacker-Wolff Syndrome
Apnea, Seizure OMIM:314580
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:617798
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Congenital Gerbode Defect
Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi... ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 2
Hypokinesia, Neonatal death OMIM:610498
Hypophosphatasia, Infantile
Intracranial hemorrhage, Apnea, Seizure OMIM:241500
Glutaric Acidemia I
Failure to thrive, Seizure, Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spastic diplegia OMIM:231670
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Seizure OMIM:255120
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... OMIM:619121
Congenital Disorder Of Glycosylation, Type Ie
Tremor, EEG abnormality, Seizure, Ataxia OMIM:608799
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Seizure, Neonatal death, Babinski sign, Cachexia, Dystonia OMIM:618186
Glycogen Storage Disease Ii
Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa... OMIM:232300
Yellow Fever
Seizure, Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal he... ORPHA:99829
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Prolonged QT interval, Seizure, Cardiomyopathy ORPHA:373
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Shortened PR interval, Wolff-Parkinson-White syndrome, Hypertension, Bilateral tonic-clo... OMIM:614947
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Spasticity, Chorea, Gait ataxia, Hypertonia OMIM:614961
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure OMIM:620224
Angelman Syndrome
Self-injurious behavior, Ataxia, Broad-based gait, Seizure, Inability to walk, Inappropriate laug... ORPHA:72
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor,... OMIM:105210
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Babinski sign, Chorea, Ataxia OMIM:604168
Hemochromatosis, Type 1
Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:235200
Tay-Sachs Disease
Typical absence seizure, Seizure, Fasciculations, Incoordination, Inability to walk, Laryngeal dy... ORPHA:845
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Spasticity, Choreoathetosis ORPHA:85285
Dpm1-Cdg
Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seizure, Generalized myo... ORPHA:79322
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Seizure ORPHA:2318
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:96147
Niemann-Pick Disease Type C
Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Generalized-onset... ORPHA:646
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Apnea, Congesti... OMIM:620646
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1727
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
47,Xyy Syndrome
Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Imp... ORPHA:8
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration, Seizure ORPHA:220497
Classic Phenylketonuria
Seizure, Hemiplegia, Paraplegia, Tremor, Hypertonia ORPHA:79254
Ring Chromosome 10 Syndrome
Cachexia, Seizure ORPHA:1438
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Seizure, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal ... ORPHA:447753
Familial Or Sporadic Hemiplegic Migraine
EEG with generalized sharp slow waves, Tongue fasciculations, Involuntary movements, Facial paral... ORPHA:569
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Myoclonus, Seizure ORPHA:3078
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Atrial flutter, Transient ischemic attack, Palpitations, Mitral regurgitat... ORPHA:1330
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Serotonin Syndrome
Hypotension, Seizure, Myoclonus, Tachycardia, Hypertension ORPHA:43116
Immune-Mediated Necrotizing Myopathy
Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure ORPHA:206569
Metachromatic Leukodystrophy
Tip-toe gait, Seizure, Incoordination, Decreased nerve conduction velocity, Tremor, Dystonia, Gai... ORPHA:512
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Seizure, Cataplexy, Inability to walk, Epileptic spasm, Generalized tonic ... OMIM:617193
3-Methylglutaconic Aciduria, Type Viii
Seizure, Bradycardia OMIM:617248
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Chromosome 18Q Deletion Syndrome
Broad-based gait, Seizure, Failure to thrive in infancy, Chorea, Tremor, Poor coordination OMIM:601808
Chromosome Xq13 Duplication Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Intrauterine growth retar... OMIM:301069
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Seizure, Cardiomyopathy, Heart block ORPHA:228308
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... OMIM:617506
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Seizure, Apnea, Myoclonus, Tachypnea, Cardiac arrest ORPHA:20
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Intermediate Nemaline Myopathy
Difficulty walking, Hypokinesia ORPHA:171433
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Botulism
Arrhythmia ORPHA:1267
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure OMIM:620300
Gm1 Gangliosidosis
Spasticity, Failure to thrive, Generalized dystonia, Seizure, Decerebrate rigidity, Tremor, Abnor... ORPHA:354
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Pulmonic stenosis OMIM:620294
Neuroendocrine Tumor Of The Colon
Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta... ORPHA:100080
Hermansky-Pudlak Syndrome 10
Apnea, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:245348
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Seizure, Mitral regurgitation,... ORPHA:746
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
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Focal impaired awareness seizure, Seizure, Inability to walk, Hyperkinetic movements, Low... OMIM:617799
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Myoclonic seizure, Seizure, Chorea, Myoclonus, Action ... OMIM:615273
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Apnea, Multifocal seizures, Focal-onset ... OMIM:620423
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Seizure, Inability to walk, Short attention span, Emotional lability, Reduced social reciprocity,... ORPHA:300570
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Tremor, Parkinsonism, Fr... ORPHA:329478
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Seizure ORPHA:85277
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Apnea, Pulmonary arterial hypertension, Tachypnea OMIM:265120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Sudden cardiac death, Bi... OMIM:201475
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Seizure, Myoclonus, Positive Romberg sign, Dysmetria, Gait ataxia, Impaired dis... OMIM:607459
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, D... ORPHA:199351
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon... OMIM:620070
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity... OMIM:620451
Vitamin B12-Unresponsive Methylmalonic Acidemia
Seizure, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Takayasu Arteritis
Weight loss, Seizure ORPHA:3287
Ddost-Cdg
Tremor, Oromotor apraxia, Seizure ORPHA:300536
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration, Seizure ORPHA:220493
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Head tremor, Postural tremor, Gait imbalance, Babinski sign, Abnorma... ORPHA:64753
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Seizure, Congestive heart failure, Respiratory distress, Pulmonary arterial hypertension, Central... OMIM:616482
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa... OMIM:612716
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Smith-Magenis Syndrome
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Gait disturbance, EEG... ORPHA:819
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Pontocerebellar Hypoplasia, Type 7
Apnea, Myoclonus, Seizure OMIM:614969
Foodborne Botulism
Arrhythmia ORPHA:228371
Central Hypoventilation Syndrome, Congenital, 1
Central hypoventilation, Nocturnal hypoventilation, Apnea, Decreased heart rate variability, Hypo... OMIM:209880
Biotinidase Deficiency
Tachypnea, Apnea, Seizure OMIM:253260
Choreoacanthocytosis
Seizure, Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Progressi... OMIM:200150
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Seizure, Respiratory distress, Apnea, Myoclonus, Bilateral tonic-clonic seizure OMIM:618426
Hijazi-Reis Syndrome
Gait disturbance, Motor stereotypy, Seizure OMIM:301094
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:617061
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy, Seizure OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 52
Seizure, Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Warburg Micro Syndrome 3
Myoclonic seizure, Inability to walk, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic... OMIM:614222
Neuroblastoma, Susceptibility To, 1
Weight loss, Myoclonus, Failure to thrive, Ataxia OMIM:256700
Wound Botulism
Cardiac arrest ORPHA:178475
Poliomyelitis
Fasciculations, Inability to walk, Paresthesia, Abnormal motor nerve conduction velocity, Hyperki... ORPHA:2912
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Seizure, Apnea, Arrhythmia, Antenatal intracerebral hemorrhage OMIM:608836
Hyperlysinemia, Type I
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short attention span, Cog... OMIM:238700
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:301013
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Seizure, Shock, Atypical absence status epilepticus, Cap... ORPHA:99826
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation OMIM:617143
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Seizure, Neonatal death OMIM:613730
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Hypertonia ORPHA:1389
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Cataplexy, Febrile seizure (within the age range of 3 months to 6 years), Fasciculati... ORPHA:496641
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Tremor, Rigidity, Dystonia, ... OMIM:615530
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyperactivity disorder, Motor ... OMIM:619103
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:609015
Glass Syndrome
Bilateral tonic-clonic seizure, Apnea, Seizure, Febrile seizure (within the age range of 3 months... OMIM:612313
48,Xxxy Syndrome
Seizure, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive o... ORPHA:96263
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia OMIM:617877
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Seizure, Hypokinesia, Cogwheel rigidity, Gait ataxia, Tremor, Rigidity, Abnormali... ORPHA:254892
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Hyperactivit... OMIM:608747
Japanese Encephalitis
Pill-rolling tremor, Myoclonus, Cogwheel rigidity, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Seizure ORPHA:228384
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Focal myoclonic seizure, Dysmetria, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:314647
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Hypo... OMIM:616364
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Tularemia
Tachycardia ORPHA:3392
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Seizure OMIM:214110
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Focal Myositis
Weight loss ORPHA:48918
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Seizure ORPHA:79330
Renpenning Syndrome
Cachexia, Seizure ORPHA:3242
Hsd10 Disease, Infantile Type
Poor coordination, Seizure, Spastic tetraparesis, Hyperkinetic movements, Loss of ambulation, Dys... ORPHA:391428
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Febrile seizure (within the ... OMIM:620073
Radio-Tartaglia Syndrome
Seizure, Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:619312
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Seizure ORPHA:263455
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
Infantile Krabbe Disease
Hyperesthesia, Spasticity, Failure to thrive, Seizure, Myoclonus, Ankle clonus, Opisthotonus, Cac... ORPHA:206436
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Seizure, Neonatal death OMIM:616342
Bohring-Opitz Syndrome
Seizure, Bradycardia ORPHA:97297
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci... ORPHA:100082
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death OMIM:619003
Classic Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:391
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Rheumatic Fever
Myocarditis, Epistaxis, Arrhythmia, Pericarditis ORPHA:3099
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Generalized tonic seizure, Aggr... OMIM:616393
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia, Status epilepticus OMIM:607426
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Myoclonus, Seizure ORPHA:466722
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr... ORPHA:280365
Trisomy X
Tremor, Seizure ORPHA:3375
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myoclonic seizure, Seizure, Tetraparesis, Tremor, Rigidity, Torticollis, Ataxia OMIM:617186
Phakomatosis Pigmentokeratotica
Arrhythmia, Raynaud phenomenon, Seizure ORPHA:2874
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration, Portal hypertension, Seizure ORPHA:1454
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, EEG abnormality, Seizure ORPHA:371364
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Failure to thrive in infancy, Difficulty walking, Gait imbalance, Gait disturbance, Bila... ORPHA:488627
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Difficulty walking, Gait ataxia, Motor stereotypy OMIM:617807
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia ORPHA:79095
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Seizure, Tip-toe gait, ... ORPHA:466768
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
Myotonia Fluctuans
Apnea ORPHA:99734
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Seizure ORPHA:35069
East Syndrome
Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Action tremor, Ataxia ORPHA:199343
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Mitochondrial Complex I Deficiency, Nuclear Type 9
Seizure, Neonatal death OMIM:618232
Developmental And Epileptic Encephalopathy 95
Seizure, Inability to walk, Focal-onset seizure, Gait disturbance, Bilateral tonic-clonic seizure... OMIM:618143
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Cortical myoclonus, Congestive heart failure ORPHA:428
Reticular Dysgenesis
Weight loss, Failure to thrive ORPHA:33355
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Seizure, EEG with spike-wave complexes, Dysmetria, Tremor,... ORPHA:2203
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Apraxia, Weight loss, Bilateral tonic-clonic seizure, Ataxia, Generalized myoc... ORPHA:99885
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arrhythmia, Mitral regurgitation, Seizure ORPHA:254346
Weaver Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:277590
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t... OMIM:614231
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Cronkhite-Canada Syndrome
Cachexia, Seizure ORPHA:2930
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis OMIM:308950
De Sanctis-Cacchione Syndrome
Spasticity, Babinski sign, Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Hypertonia, Chor... OMIM:278800
Myotonia, Potassium-Aggravated
Apneic episodes in infancy OMIM:608390
Acute Bilirubin Encephalopathy
Central apnea, Seizure ORPHA:529799
Chronic Bilirubin Encephalopathy
Central apnea, Seizure ORPHA:529808
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Seizure, Self-mutilation, Attention deficit hyperactivity disorder, EEG abnormality, Motor stereo... OMIM:619005
Niemann-Pick Disease, Type C2
Seizure, Dysphagia, Ataxia, Dementia, Motor stereotypy OMIM:607625
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Gait ataxia, Unsteady gait,... OMIM:254900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Emotional lability, Hypsarrhythmia, Cognitive impairment, Ataxia, Tics, Motor s... OMIM:619475
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Choreoathetosis, Hypertonia, Rigidity OMIM:620023
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death OMIM:242500
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Seizure, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Abnor... ORPHA:157850
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Tachypnea, Exertional dyspnea, Dyspnea OMIM:610921
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension ORPHA:231580
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Irrita... ORPHA:1675
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Myoclonic seizure, Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response OMIM:620327
Molybdenum Cofactor Deficiency, Type B
Seizure, Neonatal death, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hyperton... OMIM:252160
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disor... ORPHA:476126
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Generalized-onset seizure, Apnea, Seizure OMIM:617527
Ogden Syndrome
Arrhythmia, Cardiogenic shock ORPHA:276432
Rhabdoid Tumor
Hemiplegia, Weight loss, Cerebral palsy ORPHA:69077
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Seizure ORPHA:529965
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Cholera
Tachycardia, Hypotension, Hypovolemic shock, Seizure ORPHA:173
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Porphyria Variegata
Tachycardia, Hypertension, Seizure ORPHA:79473
Familial Colorectal Cancer Type X
Seizure, Paresthesia, Hemiplegia/hemiparesis, Weight loss, Abnormal pyramidal sign, Gait disturba... ORPHA:440437
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Seizure, Epileptic spasm, Infantile spasms, Aggressive behav... ORPHA:805
Wagro Syndrome
Emotional lability, Low frustration tolerance, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Tuberous Sclerosis 1
Epileptic spasm, Infantile spasms, Seizure, Wolff-Parkinson-White syndrome OMIM:191100
Non-Functioning Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:94080
Kinsship Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Generalized non-motor (absence) s... OMIM:619297
Fanconi Anemia, Complementation Group O
Short stature, Miscarriage, Death in infancy, Neonatal death OMIM:613390
Ivic Syndrome
Arrhythmia ORPHA:2307
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Presynaptic Congenital Myasthenic Syndromes
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Seizure, Episodi... ORPHA:98914
Congenital Myasthenic Syndrome
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Seizure, Episodi... ORPHA:590
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... ORPHA:466943
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Dystonia, C... OMIM:616271
Genitopatellar Syndrome
Apnea, Seizure ORPHA:85201
Localized Scleroderma
Vasculitis, Seizure, Arrhythmia, Raynaud phenomenon, Focal impaired awareness seizure ORPHA:90289
Wiedemann-Steiner Syndrome
Seizure, Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperac... ORPHA:319182
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Infantile s... OMIM:620455
Mast Cell Sarcoma
Weight loss ORPHA:66661
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:238750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms ORPHA:572013
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Seizure OMIM:617751
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension, Seizure ORPHA:1764
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Subdural hemorrhage OMIM:618291
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure ORPHA:258
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Seizure, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Limb hypertonia, Ataxia... ORPHA:572798
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Seizure OMIM:614052
3-Methylglutaconic Aciduria Type 7
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor... ORPHA:445038
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Seizure, Cardiomyopathy, Congestive heart failure ORPHA:26791
Pleural Mesothelioma
Weight loss ORPHA:50251
Follicular Lymphoma
Weight loss ORPHA:545
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Seizure, Frequent temper tantrums, Short attention span, A... OMIM:619575
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1001
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Wolfram Syndrome 1
Tremor, Seizure, Ataxia OMIM:222300
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Oculomotor apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Ataxia ORPHA:247262
Noonan Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Abnormal EKG ORPHA:648
Citrullinemia Type Ii
Memory impairment, Seizure, Delayed menarche, Confusion, Abnormal eating behavior, Irritability, ... ORPHA:247585
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Aicardi-Goutieres Syndrome 9
Spasticity, Failure to thrive, Seizure, Spastic tetraparesis, Spastic diplegia, Weight loss, Hype... OMIM:619487
Episodic Ataxia Type 1
Tip-toe gait, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis ORPHA:37612
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Overfriendliness OMIM:616579
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Gaucher Disease, Type Ii
Apnea, Seizure OMIM:230900
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Seizure, Congestive heart failure, Mitral reg... ORPHA:363705
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Beta-Ketothiolase Deficiency
Spasticity, Seizure, Weight loss, Ataxia, Extrapyramidal dyskinesia ORPHA:134
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Seizure, Cardiomyopathy ORPHA:157
Legionnaires Disease
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Familial Thrombocytosis
Weight loss, Seizure ORPHA:71493
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Seizure OMIM:617682
Plaa-Associated Neurodevelopmental Disorder
Apnea, Seizure ORPHA:521426
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Seizure, Obesity, Tremor, Cachexia ORPHA:85293
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Trem... ORPHA:99956
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea, Seizure ORPHA:2754
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Seizure, EEG with parietal focal spikes, Short attention span, EEG with central focal spikes, Agg... OMIM:301066
Fetal Gaucher Disease
Death in infancy, Stillbirth, Seizure, Neonatal death ORPHA:85212
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Failure to thrive, Seizure, Inability to walk,... OMIM:208900
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Asparagine Synthetase Deficiency
Seizure, EEG with burst suppression, Tremor, Clonus, Limb hypertonia, Hypertonia, Clonic seizure,... OMIM:615574
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Cachexia, Weight loss, Decreased motor nerve conduct... ORPHA:298
Van Esch-O'Driscoll Syndrome
Seizure, Attention deficit hyperactivity disorder, Excessive shyness, Motor stereotypy, Impulsivity OMIM:301030
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Xp21 Deletion Syndrome
Apneic episodes in infancy, Seizure ORPHA:261476
Catastrophic Antiphospholipid Syndrome
Chorea, Seizure ORPHA:464343
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Renal Nutcracker Syndrome
Tachycardia, Syncope, Orthostatic hypotension ORPHA:71273
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Seizure, Bradycardia ORPHA:79404
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interests, Generalized non-... OMIM:620330
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Seizure, Low frustration tolerance, Aggressive behavior, Ataxia, Unstea... ORPHA:457279
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Hyperkinetic movements, Ataxia, Dystonia, Athetoid cerebral palsy, Choreoa... ORPHA:522077
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Palpitations, Angina pectoris, Arrhythmia, Low-output congestive heart failure ORPHA:565612
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Wilson Disease
Failure to thrive, Difficulty walking, Increased body weight, Clumsiness, Weight loss ORPHA:905
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Seizure OMIM:615471
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin, Seizure ORPHA:2135
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Seizure, Hypertrophic cardiomyopathy, Respiratory distress, Apnea, Myoclonus ORPHA:17
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:618527
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Pfapa Syndrome
Weight loss ORPHA:42642
Wilson Disease
Poor motor coordination, Hypokinesia, Hand tremor, Seizure, Decreased nerve conduction velocity, ... OMIM:277900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal death, Growth delay OMIM:245400
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, EEG abnormality, Seizure, Ataxia ORPHA:2479
Fg Syndrome Type 1
Broad-based gait, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnorm... ORPHA:93932
Webb-Dattani Syndrome
Obesity, Bilateral tonic-clonic seizure, Spasticity OMIM:615926
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Seizure, Reduced social reciprocity, Skin-picking, Attent... ORPHA:177907
Phelan-Mcdermid Syndrome
Broad-based gait, Seizure, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrus... OMIM:606232
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Seizure, Speech apraxia, Tremor, Torticollis OMIM:619680
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Compulsive behaviors OMIM:613174
Neuroblastoma
Antalgic gait, Weight loss, Myoclonus, Ataxia ORPHA:635
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Myoclonic spasms, Bilateral tonic-clonic seizur... ORPHA:73224
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Arrhythmia, Elevated jugular venou... ORPHA:465508
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353281
Bilateral Perisylvian Polymicrogyria
Seizure, Apnea, Focal sensory seizure, Infantile spasms, Focal-onset seizure ORPHA:98889
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Melas
Failure to thrive, Seizure, Abnormal central motor function, Myoclonus, Hemiparesis, Gait disturb... ORPHA:550
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflow tract obstruction, L... ORPHA:308552
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Mucopolysaccharidosis Type 2
Mental deterioration, Abnormal temper tantrums, Seizure, Decreased nerve conduction velocity, Sho... ORPHA:580
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Lesch-Nyhan Syndrome
Spasticity, Seizure, Abnormality of extrapyramidal motor function, Opisthotonus, Dystonia, Choreo... OMIM:300322
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620494
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Paraplegia, Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure ORPHA:79124
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia ORPHA:261211
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Seizure OMIM:608091
Spondyloenchondrodysplasia
Spasticity, Chorea, Seizure ORPHA:1855
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Somatic sensory dysfunction, Seizure, Torticollis ORPHA:370348
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Birk-Landau-Perez Syndrome
Failure to thrive in infancy, Difficulty walking, Limb ataxia, Oculomotor apraxia, Limb hypertoni... OMIM:617595
Stuve-Wiedemann Syndrome 1
Apnea, Pulmonary arterial hypertension, Seizure OMIM:601559
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Tremor, Bilateral tonic-clonic seizure, Ataxia, Dystonia OMIM:610505
Scimitar Syndrome
Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block ORPHA:185
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Seizure ORPHA:500159
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Apnea, Congestive heart failure ORPHA:579
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi... OMIM:614921
Tuberous Sclerosis 2
Epileptic spasm, Infantile spasms, Seizure, Wolff-Parkinson-White syndrome OMIM:613254
Mgat2-Cdg
Arrhythmia, Infantile spasms, Seizure, Reflex asystolic syncope ORPHA:79329
Giant Cell Arteritis
Vasculitis, Epistaxis, Cerebral ischemia, Arrhythmia, Sudden cardiac death, Pericarditis ORPHA:397
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Progressive Supranuclear Palsy
Blepharospasm, Falls, Tremor, Rigidity, Dystonia, Unsteady gait, Bradykinesia ORPHA:683
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Scrub Typhus
Tremor, Seizure ORPHA:83317
Glycine Encephalopathy With Normal Serum Glycine
Apnea OMIM:617301
Boomerang Dysplasia
Severe short stature, Neonatal death OMIM:112310
Joubert Syndrome 21
Dyspnea, Apnea, Seizure OMIM:615636
Cap Polyposis
Weight loss ORPHA:160148
Mcdonough Syndrome
Cachexia ORPHA:2471
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Seizure ORPHA:251071
Pancreatic And Cerebellar Agenesis
Apnea, Seizure OMIM:609069
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis ORPHA:142
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Seizure, Ataxia OMIM:212750
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Myoclonus, Death in childhood, Death in infancy, Neonatal death, Stillbirth OMIM:614922
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia, Seizure ORPHA:163746
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Seizure, Pulmonic stenosis, Wolff-Parkinson-White syndrome OMIM:619343
Cockayne Syndrome Type 1
Seizure, Difficulty walking, Abnormality of peripheral nerve conduction, Tremor, Lower limb spast... ORPHA:90321
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Seizure, Spastic tetraparesis, Inability to walk, Focal-onset seizure, Decreased body... OMIM:620371
Tsh-Secreting Pituitary Adenoma
Hypotension, Seizure, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventri... ORPHA:91347
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
German Syndrome
Hypokinesia ORPHA:2077
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Gait disturbance ORPHA:2774
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Tetraplegia, Bilateral tonic-clonic seizure, Small for ge... OMIM:257300
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy ORPHA:85448
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Failure to thrive ORPHA:1842
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Seizure, Histiocytoid cardiomyopathy OMIM:309801
Typical Nemaline Myopathy
Gait disturbance, Hypokinesia, Waddling gait ORPHA:171436
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age, Hand tremor ORPHA:424
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Apnea, Bilateral tonic-clonic seizure, Concentric hypertrophic cardi... OMIM:252010
Whipple Disease
Seizure, Myoclonus, Cachexia, Abnormal pyramidal sign, Ataxia ORPHA:3452
Malignant Atrophic Papulosis
Weight loss, Seizure ORPHA:679
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Seizure, Intrauterine growth retardation, Myoclonus, Death in childhood, Death in infancy, Neonat... OMIM:619055
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Chediak-Higashi Syndrome
Seizure, Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia OMIM:214500
Hamamy Syndrome
Prolonged QRS complex, Mitral regurgitation OMIM:611174
Holoprosencephaly
Spasticity, Seizure, Failure to thrive in infancy, Chorea, Dystonia ORPHA:2162
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Central apnea, Seizure ORPHA:3463
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure... ORPHA:513456
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Seizure ORPHA:1052
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Joubert Syndrome 1
Episodic tachypnea, Central apnea, Hemifacial spasm OMIM:213300
Graves Disease
Weight loss OMIM:275000
Osteosarcoma
Weight loss ORPHA:668
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Acute Intermittent Porphyria
Tachycardia, Hypertension, Seizure ORPHA:79276
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Tarp Syndrome
Apnea, Seizure ORPHA:2886
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Immunodeficiency 27A
Weight loss OMIM:209950
Argininemia
Seizure, Postnatal growth retardation, Irritability, Hyperactivity, Anorexia OMIM:207800
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Melena, Atypical absence status epilepticus, Hypertension ORPHA:652
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Heart block OMIM:617063
Mirizzi Syndrome
Tachycardia ORPHA:521219
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Seizure ORPHA:261144
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Chronic Beryllium Disease
Weight loss ORPHA:133
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Convulsive status epilepticus, Spasticity, Seizure, Inability to walk, Hypertonia, Ataxia OMIM:608885
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Death in infancy, Neonatal death OMIM:618835
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert... ORPHA:892
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Death in infancy, Neonatal death OMIM:618839
Hallermann-Streiff Syndrome
Choreoathetosis, Small for gestational age, Bilateral tonic-clonic seizure OMIM:234100
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Bruxism, Reduced social reciprocity, Irritability, Polyphagia, ... OMIM:615873
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe... ORPHA:247815
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Late-Onset Isolated Acth Deficiency
Weight loss, Failure to thrive, Seizure ORPHA:199299
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Weight loss, Failure to thrive ORPHA:361
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypokinesia OMIM:613320
Osteopathia Striata With Cranial Sclerosis
Apnea, Seizure OMIM:300373
Bresek Syndrome
Intrauterine growth retardation, Growth delay, Neonatal death ORPHA:85284
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Broad-based gait, Small for gestational age, Typical absence seizure, Seizure, Febrile se... ORPHA:268261
Systemic Lupus Erythematosus
Chorea, Weight loss, Seizure ORPHA:536
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Shprintzen-Goldberg Syndrome
Apnea, Mitral regurgitation ORPHA:2462
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Familial Mediterranean Fever
Vasculitis, Seizure, Arrhythmia, Myocardial infarction, Pericarditis ORPHA:342
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p... OMIM:612199
Pettigrew Syndrome
Spasticity, Gait ataxia, Choreoathetosis, Seizure OMIM:304340
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Multiple Mitochondrial Dysfunctions Syndrome 1
Myoclonus, Focal-onset seizure, Death in infancy, Neonatal death OMIM:605711
Cartilage-Hair Hypoplasia
Cardiomyopathy, Heart block ORPHA:175
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Mend Syndrome
Abnormal auditory evoked potentials, Seizure, Aggressive behavior, Hyperactivity, Abnormal social... ORPHA:401973
Kallmann Syndrome
Seizure, Paraplegia, Tremor, Gait disturbance, Ataxia ORPHA:478
Kleefstra Syndrome
Arrhythmia, Seizure ORPHA:261494
Schwartz-Jampel Syndrome
Apnea, Arrhythmia, Pulmonary arterial hypertension ORPHA:800
Slc39A8-Cdg
Sudden episodic apnea, Seizure ORPHA:468699
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Seizure OMIM:610253
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Seizure OMIM:301040
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Seizure, Cerebral ischemia, Hypertension, Ang... ORPHA:900
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Myopathy, Centronuclear, X-Linked
Hypokinesia OMIM:310400
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor ORPHA:99819
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hand tremor, Seizure, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, A... OMIM:614756
Congenital Disorder Of Glycosylation, Type Iia
Seizure, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor ... OMIM:212066
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Mildly reduced left ventricular eje... ORPHA:99094
Kaposi Sarcoma
Weight loss ORPHA:33276
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Vici Syndrome
Abnormal posturing, Seizure OMIM:242840
Leishmaniasis
Weight loss ORPHA:507
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Seizure ORPHA:98754
X-Linked Agammaglobulinemia
Weight loss, Failure to thrive ORPHA:47
Congenital Tracheomalacia
Dyspnea, Apnea, Pulmonary arterial hypertension, Intercostal retractions ORPHA:95430
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Dominant Beta-Thalassemia
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231226
Bacterial Toxic-Shock Syndrome
Hypotension, Shock, Myocarditis, Tachycardia, Capillary leak ORPHA:36234
Bullous Pemphigoid
Weight loss ORPHA:703
Cystinosis
Polydipsia, Gait disturbance, Motor stereotypy ORPHA:213
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Slender build, Large for gestational age, Gait ataxia, Bilateral tonic-clonic... ORPHA:457359
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Seizure ORPHA:98793
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:276621
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Seizure, Reduced social reciprocity, Dysmetria, Aggressive behavior, Pol... ORPHA:96121
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Seizure ORPHA:177904
Alveolar Echinococcosis
Ataxia, Weight loss, Seizure, Hemiparesis ORPHA:284
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Seizure ORPHA:177901
Menkes Disease
Spasticity, Hypertonia, Chorea, Seizure ORPHA:565
Nephroblastoma
Weight loss ORPHA:654
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:261515
Polyarteritis Nodosa
Weight loss ORPHA:767
Graft Versus Host Disease
Tachycardia ORPHA:39812
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Majeed Syndrome
Cachexia, Weight loss, Failure to thrive ORPHA:77297
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Amyotrophic Lateral Sclerosis
Spasticity, Fasciculations, Babinski sign, Cachexia, Paralysis ORPHA:803
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Koolen-De Vries Syndrome Due To A Point Mutation
Seizure, Generalized-onset seizure, Inappropriate laughter, Overfriendliness, Focal hemiclonic se... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Seizure, Generalized-onset seizure, Inappropriate laughter, Overfriendliness, Focal hemiclonic se... ORPHA:363958
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seizure, Wolff-Parkinson-White syndrome ORPHA:369950
Simple Cryoglobulinemia
Paresthesia, Weight loss, Spontaneous pain sensation, Seizure ORPHA:91139
Aicardi-Goutieres Syndrome 7
Seizure, Tetraparesis, Spastic tetraparesis, Weight loss, Lower limb spasticity, Tetraplegia, Hyp... OMIM:615846
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Apnea, Myoclonus, Hypovent... ORPHA:438213
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Bilateral tonic-clonic seizure ORPHA:2751
Oculodentodigital Dysplasia
Arrhythmia, Seizure OMIM:164200
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Myoclonic seizure, Seizure, Large for gestational age, Gait ataxia, Bilateral t... OMIM:280000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Simple febrile seizure, Moto... ORPHA:464311
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Seizure, Neonatal death OMIM:618810
Tetrasomy 12P
Cachexia ORPHA:884
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure ORPHA:2636
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Severe Congenital Nemaline Myopathy
Hypokinesia ORPHA:171430
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... ORPHA:353277
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Campomelic Dysplasia
Respiratory distress, Apnea, Seizure OMIM:114290
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Myoclonus, Seizure, Neonatal death OMIM:619167
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Beta-Thalassemia Major
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231214
Lynch Syndrome
Seizure, Paresthesia, Hemiplegia/hemiparesis, Weight loss, Abnormal pyramidal sign, Gait disturba... ORPHA:144
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Acute Adrenal Insufficiency
Weight loss, Failure to thrive, Seizure ORPHA:95409
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Gait disturbance, Hemiplegia/hemiparesis ORPHA:183
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619512
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Disproportionate short-limb short stature, Neonatal death OMIM:224410
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... ORPHA:505248
Yao Syndrome
Weight loss OMIM:617321
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive ORPHA:95427
Oculopharyngodistal Myopathy 1
Difficulty walking, Weight loss, Tremor, Ataxia OMIM:164310
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure ORPHA:352665
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... ORPHA:906
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Abcd Syndrome
Neonatal death OMIM:600501
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
Bainbridge-Ropers Syndrome
Self-injurious behavior, Seizure, Inability to walk, Recurrent hand flapping, Motor stereotypy OMIM:615485
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Oculodentodigital Dysplasia
Arrhythmia, Seizure ORPHA:2710
Pagod Syndrome
Arrhythmia, Sudden cardiac death ORPHA:991
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea OMIM:617239
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:612474
Rheumatoid Arthritis
Weight loss OMIM:180300
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Genera... ORPHA:459070
Semilobar Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Seizure, Abnormal heart rate variability ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Seizure, Abnormal heart rate variability ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Seizure, Abnormal heart rate variability ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal pattern of respiration, Seizure, Abnormal heart rate variability ORPHA:93924
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Focal-onset seizure OMIM:301044
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged QRS complex, Supraventri... ORPHA:273
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Norrie Disease
Self-injurious behavior, Seizure, Irritability, Attention deficit hyperactivity disorder, EEG abn... ORPHA:649
Congenital Tufting Enteropathy
Weight loss, Failure to thrive ORPHA:92050
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Vocal cord paralysis, Tremor ORPHA:29072
Igg4-Related Aortitis
Weight loss ORPHA:449400
Wolman Disease
Cachexia ORPHA:75233
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy, Seizure OMIM:610954
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Distal sensory impairment, Cachexia, Weight loss, Hypoesthesia OMIM:603041
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Typical absence seizure, Focal-onset seizure, Atonic seizure OMIM:617157
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Riddle Syndrome
Poor hand-eye coordination, Clumsiness, Gait disturbance, Weight loss, Ataxia ORPHA:420741
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Ménétrier Disease
Weight loss ORPHA:2494
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Behçet Disease
Seizure, Paresthesia, Hemiparesis, Weight loss, Abnormal pyramidal sign, Gait disturbance, Ataxia ORPHA:117
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Aredyld Syndrome
Cachexia ORPHA:1133
Brucellosis
Chorea, Weight loss, Small for gestational age, Failure to thrive ORPHA:1304
Mednik Syndrome
Growth delay, Death in childhood, Death in infancy, Neonatal death OMIM:609313
Isolated Posterior Meningocele
Hypokinesia, Difficulty walking, Paraplegia, Hypertonia, Upper limb spasticity ORPHA:268810
Klatskin Tumor
Weight loss ORPHA:99978
Amoebiasis Due To Free-Living Amoebae
Arrhythmia, Seizure ORPHA:68
Pneumocystosis
Weight loss ORPHA:723
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Seizure ORPHA:109
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Neonatal death OMIM:619859
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Seizure, Ischemic stroke, Portal hypertension, Apnea, Atonic seizure, Focal impaired awareness se... OMIM:619503
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Pemphigus Vulgaris
Weight loss ORPHA:704
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Cachexia, Ataxia ORPHA:220295
Monosomy 22Q13.3
Bruxism, Hyperactivity, Seizure, Hair-pulling ORPHA:48652
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Felty Syndrome
Weight loss ORPHA:47612
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Seizure, Attention deficit hyperactivity disorder, EEG abnor... ORPHA:534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Broad-based gait, Limb ataxia, Paralysis, Bilateral tonic-clonic seizure with... ORPHA:2072
Short Syndrome
Weight loss ORPHA:3163
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction, Seizure ORPHA:289390
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Seizure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral reg... ORPHA:2556
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Mucopolysaccharidosis Type 2, Severe Form
Seizure, Cardiomyopathy, Arrhythmia, Heart murmur, Hypertension ORPHA:217085
Refractory Celiac Disease
Weight loss ORPHA:398063
Cockayne Syndrome
Spasticity, Somatic sensory dysfunction, Seizure, Difficulty walking, Inability to walk, Action t... ORPHA:191
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Seizure OMIM:620047
Kawasaki Disease
Vasculitis, Congestive heart failure, Arrhythmia, Myocarditis, Pericarditis ORPHA:2331
Mucopolysaccharidosis Type 2, Attenuated Form
Seizure, Cardiomyopathy, Arrhythmia, Heart murmur, Hypertension ORPHA:217093
Autosomal Recessive Malignant Osteopetrosis
Apnea, Pulmonary arterial hypertension ORPHA:667
Addison Disease
Weight loss, Failure to thrive, Seizure ORPHA:85138
Gaucher Disease
Tremor, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor function, Oculomotor apraxia,... ORPHA:355
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Focal myoclonic seizure, Seizure, Generalized-onset seizure, Inability to walk, Motor stereotypy ORPHA:508533
Poems Syndrome
Hyperesthesia, Weight loss, Paresthesia ORPHA:2905
Joubert Syndrome 5
Episodic tachypnea, Central apnea OMIM:610188
Primary Myelofibrosis
Cachexia ORPHA:824
Microsporidiosis
Cachexia, Weight loss, Seizure ORPHA:2552
Lymphoid Interstitial Pneumonia
Weight loss, Failure to thrive ORPHA:79128
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Seizure, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, Motor stere... OMIM:617330
Cockayne Syndrome B
Arrhythmia, Hypertension, Seizure OMIM:133540
Budd-Chiari Syndrome
Weight loss ORPHA:131
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity ORPHA:813
Cockayne Syndrome A
Arrhythmia, Hypertension, Seizure OMIM:216400
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Osteootohepatoenteric Syndrome
Weight loss, Failure to thrive OMIM:619377
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Acrodermatitis Enteropathica
Weight loss, Failure to thrive ORPHA:37
Xfe Progeroid Syndrome
Poor coordination, Cachexia, Failure to thrive OMIM:610965
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Paroxysmal dyspnea, Tricuspid regurgitation, Respiratory distress, Mit... ORPHA:99125
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Dyrk1A-Related Intellectual Disability Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait disturbance, Hyperac... ORPHA:464306
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Dermatomyositis
Vasculitis, Sinus tachycardia, Arrhythmia, Pulmonary arterial hypertension, Telangiectasia of the... ORPHA:221
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... ORPHA:821
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Erdheim-Chester Disease
Weight loss, Ataxia ORPHA:35687
Pancreatoblastoma
Weight loss ORPHA:677
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Arrhythmia, Apnea, Raynaud phenomenon ORPHA:285
Thymoma
Weight loss ORPHA:99867
Polycythemia Vera
Weight loss, Paresthesia ORPHA:729
Nocardiosis
Weight loss, Seizure ORPHA:31204
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Cystic Echinococcosis
Weight loss ORPHA:400
Adult-Onset Still Disease
Weight loss ORPHA:829
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Seizure, Intrauterine growth retardation, Neonatal death, Growth delay, Focal impaired awareness ... OMIM:618500
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonic stenosis, Abnormal heart valve physiology ORPHA:3384
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Seizure, Congestive heart failure OMIM:256040
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Hermansky-Pudlak Syndrome
Weight loss, Abnormality of visual evoked potentials ORPHA:79430
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:468631
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Plague
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Rat-Bite Fever
Diminished movement ORPHA:31205
1P36 Deletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Gait disturbance, Dysphagia, EEG abnormality, Motor... ORPHA:1606
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Mitral regurgitation, Pulmonic stenosis ORPHA:284984
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Multiple Myeloma
Weight loss, Paresthesia ORPHA:29073
Pyomyositis
Weight loss ORPHA:764
Lysosomal Acid Lipase Deficiency
Cachexia, Weight loss, Failure to thrive ORPHA:275761
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy, Seizure OMIM:616682
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Caroli Disease
Weight loss ORPHA:53035
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Fatigable weakness of bulbar muscles ORPHA:2020
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Tropical Pancreatitis
Weight loss ORPHA:103918
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Motor stereotypy OMIM:618653
Castleman Disease
Weight loss ORPHA:160
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:218040
Q Fever
Weight loss ORPHA:781
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Seizure OMIM:619522
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Seizure OMIM:309590
Primrose Syndrome
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:259050
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Trisomy 18
Cachexia, Hypertonia ORPHA:3380
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Pulmonary Alveolar Microlithiasis
Weight loss, Fatigable weakness ORPHA:60025
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Camurati-Engelmann Disease
Slender build, Cachexia, Waddling gait, Ataxia ORPHA:1328
Arboleda-Tham Syndrome
Gait imbalance, Motor stereotypy, Dysphagia, Seizure OMIM:616268
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Malt Lymphoma
Weight loss ORPHA:52417
Immunodeficiency 31C
Weight loss OMIM:614162
Seckel Syndrome
Cachexia ORPHA:808
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Wolf-Hirschhorn Syndrome
Motor stereotypy, EEG abnormality, Seizure OMIM:194190
Williams Syndrome
Depression, Gait imbalance, Overfriendliness, Dysmetria, Attention deficit hyperactivity disorder... ORPHA:904
Mowat-Wilson Syndrome
Ataxia, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG with spike-wave complexes, Foc... ORPHA:2152
Degcags Syndrome
Tachycardia, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:619488
Stickler Syndrome
Arrhythmia ORPHA:828
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Reactive Arthritis
Weight loss ORPHA:29207
Kabuki Syndrome 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:147920
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss, Failure to thrive OMIM:219800
Kikuchi-Fujimoto Disease
Weight loss, Ataxia ORPHA:50918
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, Focal-onset seizure, Seizure ORPHA:261537
Ppoma
Weight loss ORPHA:97278
Fanconi Anemia
Weight loss ORPHA:84
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Loeys-Dietz Syndrome 3
Aortic regurgitation, Mitral regurgitation, Subarachnoid hemorrhage, Atrial fibrillation, Pulmoni... OMIM:613795
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Pallister-Killian Syndrome
Aortic valve stenosis, Seizure, Hypertrophic cardiomyopathy, Apneic episodes in infancy, Hyperven... OMIM:601803
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy, Seizure OMIM:309000
Somatostatinoma
Weight loss ORPHA:97283
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, Focal-onset seizure, Seizure ORPHA:261552
Vipoma
Weight loss ORPHA:97282
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Glucagonoma
Weight loss ORPHA:97280
Coffin-Siris Syndrome 12
Motor stereotypy, Seizure OMIM:619325
Postinfectious Vasculitis
Weight loss ORPHA:48435
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Simpson-Golabi-Behmel Syndrome, Type 1
Pulmonic stenosis, Arrhythmia, Cardiomyopathy OMIM:312870
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Failure to thrive ORPHA:90794
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Fatiguable weakness of proximal limb muscles, Weight loss, Truncal obesity... ORPHA:99889
Proteus Syndrome
Cachexia, Seizure ORPHA:744
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450
Alström Syndrome
Typical absence seizure ORPHA:64

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 Scn1a

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 Scn1a.

No publications found that use IMPC mice or data for Scn1a.

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
Scn1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Scn1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Scn1aem6(IMPC)Tcp Indel Mice

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