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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
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... ORPHA:1942
Migraine, Familial Hemiplegic, 3
Seizure OMIM:609634
Familial Or Sporadic Hemiplegic Migraine
Involuntary movements, Impaired temperature sensation, Dissociated sensory loss, EEG with focal s... 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
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia, Myoclonic seizure OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Jervell And Lange-Nielsen Syndrome
Seizure, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Seizure, Syncope, Bradycardia OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... 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
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Angelman syndrome (Type 2)
Seizure, Truncal ataxia, EEG abnormality DECIPHER:54
Angelman syndrome (Type 1)
Seizure, Truncal ataxia, EEG abnormality DECIPHER:4
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity... OMIM:619911
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Seizure, Syncope, Torsade de pointes, Abnormal T-wave, P... ORPHA:101016
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Seizure, Spasticity, Ataxia, EEG abnormality OMIM:619228
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Megalencephaly With Dysmyelination
Seizure, Spasticity, Ataxia, EEG with photoparoxysmal response OMIM:249240
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Autism
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... OMIM:607373
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Seizure, Sick sinus syndrome, Bradycardia OMIM:617173
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Nathalie Syndrome
Abnormal EKG OMIM:255990
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Autism, Susceptibility To, 20
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Seizure, Ataxia ORPHA:1182
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... OMIM:608636
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Nathalie Syndrome
Arrhythmia ORPHA:2663
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... ORPHA:98811
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia OMIM:125370
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... ORPHA:31709
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, G... OMIM:614561
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure ORPHA:98809
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... OMIM:617171
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Slender build OMIM:617709
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Sick sinus syndrome, Bradycardia OMIM:617182
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior, Seizure ORPHA:436151
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ... ORPHA:66529
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Seizure, Bradycardia, Hypertrophic c... OMIM:617222
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... OMIM:104290
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclonic seizure, Chorea, ... OMIM:616981
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Cachexia, Tremor, Chorea, Babinski sign, Dy... OMIM:618093
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Myoclonic-Atonic Epilepsy
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... OMIM:616421
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Seizure, Arrhythmia ORPHA:2151
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia ORPHA:98934
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300425
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Abnormality of extrapyramidal... ORPHA:382
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Hypsarrhythmia, Seizure OMIM:619561
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Chorea, Convulsive status epilepticus, Dystonia OMIM:618760
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness OMIM:618221
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordination, Seizure, ... OMIM:619150
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure, Bradycardia OMIM:609924
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis OMIM:300894
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... OMIM:617665
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,... OMIM:616230
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Choreoathetosis, Familial Inverted
Rigidity, Abnormal pyramidal sign, Seizure, Gait disturbance, Progressive choreoathetosis OMIM:118750
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Benign Familial Neonatal Epilepsy
Apnea, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure,... ORPHA:1949
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity, Short stature DECIPHER:19
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... ORPHA:53583
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia... OMIM:617836
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... OMIM:300423
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... ORPHA:168782
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Familial Atrial Fibrillation
Palpitations, Atrial fibrillation, Syncope, Myocardial infarction ORPHA:334
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk, Dysmetria, Ga... OMIM:618090
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Diminished movement... ORPHA:97349
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Seizure, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrh... ORPHA:542306
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Coenzyme Q10 Deficiency, Primary, 7
Seizure, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Seizure, Paroxysmal choreoathetosis, Infantile spasms OMIM:128200
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Infantile spasms, Chorea, Choreoathetosis, Athetosis, Seizure, Failure to thrive OMIM:309541
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... OMIM:607454
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Sudden cardiac death, Left ventricular outflow tract obstruction, Concentric... OMIM:619402
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Cardiac arrest, Focal motor seizure, Bradycardia, Hypertrophic ca... OMIM:618235
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Status ep... ORPHA:71277
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms OMIM:602066
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Intellectual Developmental Disorder, Autosomal Dominant 46
Seizure, Focal impaired awareness seizure, Infantile spasms, Tonic seizure OMIM:617601
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... ORPHA:100988
Dystonia 23
Arrhythmia, Myoclonus OMIM:614860
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Seizure, Bradycardia, Myoclonus OMIM:619814
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Seizure, Bradycardia, Pul... OMIM:601005
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Diminished mo... ORPHA:240103
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Seizure, EEG abnormality, Myoclonus, Loss of ambulation OMIM:600143
Developmental And Epileptic Encephalopathy 45
Seizure, Ataxia, Hypsarrhythmia OMIM:617153
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Focal tonic seizure, Athetosis, Dystonia, Generalized tonic seizure OMIM:615473
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetiti... OMIM:614063
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... OMIM:172700
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Atrial fibrillation, Elevated left ventricular end-di... OMIM:612201
Spinocerebellar Ataxia, Autosomal Recessive 12
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... OMIM:614322
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Sei... OMIM:617672
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Inabi... OMIM:618917
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Seizure OMIM:615351
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive OMIM:609056
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia OMIM:618453
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Combined Oxidative Phosphorylation Deficiency 6
Generalized-onset seizure, Involuntary movements, Tetraplegia, Seizure, Tongue fasciculations, Hy... OMIM:300816
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Seizure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... OMIM:614820
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction ORPHA:206559
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Ceroid Lipofuscinosis, Neuronal, 11
Generalized myoclonic seizure, Seizure, Ataxia, EEG with generalized polyspikes OMIM:614706
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Symmetrical Thalamic Calcifications
Seizure, Arrhythmia ORPHA:1314
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, Myoclonic seizure, Seizure, Focal impaired awareness seizure OMIM:617929
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... ORPHA:140927
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Dystonia, Spa... OMIM:617829
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Impaired social interaction... OMIM:617820
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure OMIM:618501
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Spinocerebellar Ataxia 17
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ... OMIM:607136
Muscle Filaminopathy
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction ORPHA:171445
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage OMIM:619040
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Hereditary Geniospasm
EEG abnormality, Chin myoclonus, Intention tremor ORPHA:53372
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Seizure, Arrhythmia, Hypertrophic cardiomyopathy OMIM:616198
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D... OMIM:256731
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Seizure, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Babinski sig... ORPHA:93952
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... ORPHA:2590
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:613876
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Seizure, Histiocytoid cardiomyop... OMIM:300952
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... ORPHA:101070
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... OMIM:617493
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... OMIM:271980
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Benign Occipital Epilepsy
Focal impaired awareness seizure ORPHA:25968
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure, Spasticity OMIM:620317
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seizure, Seizure, Hyperk... OMIM:614254
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... ORPHA:216873
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei... OMIM:612736
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Gait disturba... OMIM:600795
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Myoclonic spas... ORPHA:36913
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, EEG abnormality,... OMIM:606777
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Seizure, Torsade de pointes, Hypertrophic cardiomyopathy... OMIM:616878
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... OMIM:239500
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation OMIM:613874
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, Status epilepticus, Focal impaired awareness sei... OMIM:613970
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Generalized-onset seizure, Bilateral tonic-clonic ... OMIM:620066
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Seizure, Myoclonus ORPHA:166063
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure OMIM:143100
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoathetosis, Myoclo... ORPHA:726
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency, Tonic seizure OMIM:611722
Phosphoserine Aminotransferase Deficiency
Seizure, Apnea, Myoclonus OMIM:610992
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... ORPHA:79263
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia OMIM:609161
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Hartnup Disorder
Hyperactivity, Short stature, Seizure, Attention deficit hyperactivity disorder, Emotional labili... OMIM:234500
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Congenital Disorder Of Glycosylation, Type Iaa
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... OMIM:617082
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Huntington Disease-Like 3
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo... OMIM:604802
Cln5 Disease
Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, Focal-onset seizure, ... ORPHA:228360
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia OMIM:617862
Coenzyme Q10 Deficiency, Primary, 5
Seizure, Bradycardia OMIM:614654
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitive mannerisms OMIM:617830
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Jerky head movements, Depression, Pundin... ORPHA:64280
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwheel rigidity, ... OMIM:619725
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... OMIM:618249
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Apnea, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Infantile Cerebellar-Retinal Degeneration
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Seizure OMIM:613811
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Multifocal seizures, Bilateral tonic-clonic seizure, Infanti... ORPHA:480864
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 23
Seizure, Arrhythmia OMIM:616949
Cln3 Disease
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, T-wave inversion... ORPHA:228346
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Inability to walk, Chorea, Seizure, Status epilepticus, Spasticity OMIM:618557
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Respiratory insufficiency, ... OMIM:617290
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity, Seizure, Short stature OMIM:300271
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Seizure, Involuntary movements, Parkinsonism OMIM:616413
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... OMIM:608049
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... ORPHA:13
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram... ORPHA:306682
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Seizure, Apnea OMIM:615228
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, EEG abnormality, Dystonia OMIM:612126
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Seizure, Hypertonia, Stat... ORPHA:79097
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... OMIM:600363
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity OMIM:617065
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Monosodium Glutamate Sensitivity
Palpitations OMIM:231630
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Cardiac arrest OMIM:618951
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300495
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Bruxism... ORPHA:561854
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms ORPHA:94090
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Seizure, Pro... ORPHA:157946
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Apnea, Respiratory insufficiency, Bilateral tonic-clonic seizure ORPHA:209370
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Seizure, Sync... ORPHA:90065
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Seizure precipitated by febrile infection, C... ORPHA:363558
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni... ORPHA:508093
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Seizure... ORPHA:500180
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, Bradycardia, Myoclonic ... OMIM:614498
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Seizure, Cognitive impairment OMIM:238700
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho... OMIM:618451
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:226750
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 79
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... OMIM:618559
Mitochondrial Complex I Deficiency, Nuclear Type 14
Seizure, Hypertrophic cardiomyopathy, Apnea OMIM:618236
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Abnormal nervous system electrophysiology, Motor deterioration OMIM:601780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Seizure, Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Spastic tetraplegia, Dystonia, Neonatal death, Failure to thrive OMIM:618237
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obes... ORPHA:464282
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Difficulty walking, ... OMIM:617393
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Atrophoderma Vermiculata
Heart block ORPHA:79100
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Mu... OMIM:617166
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Scorpion Envenomation
Bundle branch block, Tachycardia, Hemifacial spasm, Cardiac conduction abnormality, Congestive he... ORPHA:466677
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... OMIM:615528
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... ORPHA:439
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity ORPHA:101075
Atrial Fibrillation, Familial, 12
Paroxysmal atrial fibrillation OMIM:614050
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Bruxism, Abn... OMIM:618718
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Infantile spasms OMIM:278780
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Seizure, Tip-toe gait, Gait di... ORPHA:216866
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ... OMIM:614487
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Hype... OMIM:617964
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... ORPHA:276435
Combined Oxidative Phosphorylation Deficiency 10
Seizure, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Abnorma... OMIM:540000
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Illum Syndrome
Bradycardia OMIM:208155
Cdkl5-Deficiency Disorder
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Gait disturbance, Inap... ORPHA:505652
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... ORPHA:71517
Variegate Porphyria
Tachycardia OMIM:176200
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... ORPHA:98756
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthr... ORPHA:313772
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dystonia, Loss... OMIM:618088
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Seizure, Bradycardia OMIM:609286
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:258501
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Atrial fibrillation OMIM:614676
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Failure to thrive, Dystonia OMIM:271930
Glycine Encephalopathy 1
Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Seizure, Irritab... OMIM:605899
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s... OMIM:617188
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Athetosis, Seizure, Dystonia OMIM:619922
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Bilateral t... ORPHA:1942
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency, Seizure, Myoclonus OMIM:300673
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myo... OMIM:600721
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Seizure, Inapprop... ORPHA:411515
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Seizure, Status ... ORPHA:529665
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Hypokinesia, Sensory ataxia OMIM:618184
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... ORPHA:251347
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance ORPHA:101078
Rett Syndrome
Abnormal T-wave, Seizure, Prolonged QTc interval OMIM:312750
Infantile Dystonia-Parkinsonism
Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, H... ORPHA:238455
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Hyperekplexia 3
Apnea, Bilateral tonic-clonic seizure, Syncope, Myoclonus, Respiratory arrest OMIM:614618
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysphagia, A... ORPHA:391417
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Dysmetria, Gait ataxia, Limb ataxia, Impaired tandem gait, ... OMIM:117360
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... OMIM:204200
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Mitochondrial Dna Depletion Syndrome 17
Epilepsia partialis continua, Spastic tetraparesis, Chorea, Seizure, Status epilepticus, Hemiball... OMIM:618567
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Apnea, Dyspnea, Seizure, Hyperventilation OMIM:229700
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria OMIM:603218
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Spastic tetraparesis, Tonic seizure, Infantile spasms, Clonic sei... OMIM:618012
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathe... ORPHA:225154
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski sign, Unsteady gait, F... ORPHA:98761
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Seizure, Dementia, Agitation, Semantic dementia, Disinhibition, Myoclonus, Mem... ORPHA:1020
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Myoclonic seizure, Seizure, Respiratory failure, Status epilept... OMIM:610127
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Progre... ORPHA:79264
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar... ORPHA:90068
Hyperekplexia 1
Exaggerated startle response, Hypokinesia, Seizure, Hypertonia, Myoclonus, Frequent falls, Noctur... OMIM:149400
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus, Clonic seizure OMIM:617235
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc... ORPHA:411986
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to ... ORPHA:3095
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Hemiparesis, Sei... OMIM:604317
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Chorea, Seizure, Spasticity, Failure to thrive ORPHA:70472
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab... ORPHA:444002
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Cachexia, Head titubation, I... ORPHA:300605
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Moynahan Syndrome
Seizure, Cachexia ORPHA:2574
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... OMIM:614831
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... ORPHA:206443
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... ORPHA:98759
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Seizure, Focal clonic seizure, Bradycardia, Myoclonus, Status epi... OMIM:220120
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... ORPHA:477673
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Seizure, Apneic episodes in infancy ORPHA:500545
Severe Canavan Disease
Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Decerebrate rigidity, ... ORPHA:314911
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Congestive heart failure, Focal-onset seizure, ... ORPHA:91131
Intellectual Developmental Disorder, X-Linked 104
Tremor, Seizure, Spasticity, Ataxia OMIM:300983
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Seizure, Status epilepticus, Bradycardia OMIM:619272
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Glutamine Deficiency, Congenital
Seizure, Bradycardia OMIM:610015
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Generalized tonic seizure OMIM:619147
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Gait ataxia, Weight loss, Seizure, Status epilepticus, Failure to thrive OMIM:612075
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Seizure, Hypertonia, Dystonia ORPHA:52503
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Apnea, Myoclonus, Myoclonic seizure OMIM:618225
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Seizure, Hypertonia... OMIM:617864
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Febrile seizure (within the age range of 3 months to 6 years), Abnormal electro... OMIM:609438
Congenital Myopathy 9A
Tongue fasciculations, Akinesia OMIM:618822
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... ORPHA:268947
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block ORPHA:254361
Developmental And Epileptic Encephalopathy 46
Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Limb hypertonia OMIM:617162
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... ORPHA:280219
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... OMIM:617105
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Glossopharyngeal Neuralgia
Seizure, Syncope, Jaw claudication, Bradycardia ORPHA:221098
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Myoclonic seizure, Seizure, Respiratory failure, Status epi... ORPHA:168486
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Febrile seizure (w... OMIM:619735
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Tongue fasciculations, Hypokinesia OMIM:620007
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Developmental And Epileptic Encephalopathy 29
Chorea, Myoclonic seizure, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive OMIM:616339
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Monomelic Amyotrophy
Tremor, Fasciculations, Abnormality of peripheral nerve conduction ORPHA:65684
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggre... OMIM:619580
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... OMIM:604391
Tuberculosis
Weight loss ORPHA:3389
Acquired Methemoglobinemia
Tachycardia, Seizure, Syncope, Palpitations, Arrhythmia ORPHA:464453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block OMIM:616479
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Dystonia, Parkins... ORPHA:411602
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Seizure, Broad-based gait, Spastic tetraparesis OMIM:619470
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... OMIM:615516
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Distal sensory impairment, Hype... OMIM:609260
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Spinocerebellar Ataxia, Autosomal Recessive 33
Febrile seizure (within the age range of 3 months to 6 years), Arrhythmia, Focal impaired awarene... OMIM:620208
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... OMIM:620292
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis OMIM:615483
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Joubert Syndrome 30
Seizure, Tachypnea, Apnea OMIM:617622
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Spontaneous Periodic Hypothermia
Seizure, Arrhythmia ORPHA:29822
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... ORPHA:101077
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Seizure, Spasticity OMIM:617931
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Seizure, Palpitations, Hypotension OMIM:263800
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi... ORPHA:276556
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity ORPHA:33445
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Seizure ORPHA:94125
Arthrogryposis Multiplex Congenita 6
Neonatal death, Akinesia OMIM:619334
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... ORPHA:457205
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Head titubation, Rigidity, Babinski ... OMIM:608804
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... ORPHA:401768
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Difficulty walking, Generali... OMIM:159950
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre... ORPHA:98755
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Syncope, Palpit... ORPHA:422
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Seizure, Dilated cardiomyopathy ORPHA:66634
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Gaucher Disease Type 2
Generalized myoclonic seizure, Cardiac arrest ORPHA:77260
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Seizure, Dystonia, Spasticity, Failure to thrive OMIM:618238
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction... ORPHA:99014
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Cardiac arrest, Myoclonus ORPHA:168593
Joubert Syndrome 9
Seizure, Apnea, Episodic tachypnea OMIM:612285
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Focal-onset seizure, Low-to-normal blood pressure, Syn... ORPHA:358
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Seizure ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis... OMIM:616672
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor, Failure to thrive ORPHA:363717
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Weight loss, Seizure, Slender build OMIM:613662
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... ORPHA:33543
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure OMIM:615282
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia ORPHA:488635
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Myoclonic seizure OMIM:619576
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Tongue fasciculations, Hypokinesia ORPHA:238329
Sydenham Chorea
Chorea, Unsteady gait, Hemiballismus ORPHA:306731
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Abnormal pattern of respiration OMIM:608800
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Abnormality of extrapyramid... OMIM:615673
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus, Seizure, Neonatal death, Hypokinesia OMIM:608013
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Aortic valve stenosis, Atrial fibrillation OMIM:617912
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d... ORPHA:157846
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, ... OMIM:617435
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Thrombotic Thrombocytopenic Purpura
Seizure, Arrhythmia, Myocardial infarction ORPHA:54057
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Tonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Pulmonary ... OMIM:620029
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi... ORPHA:276575
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movements, Upper limb s... ORPHA:457240
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoathetosis, Limb dystonia, Fr... OMIM:619054
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
2Q24 Microdeletion Syndrome
Central apnea, Seizure ORPHA:1617
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Combined Oxidative Phosphorylation Deficiency 1
Seizure, Spasticity, Hypertonia, Hypokinesia OMIM:609060
Pontocerebellar Hypoplasia, Type 2B
Clonus, Tonic seizure, Chorea, Babinski sign, Opisthotonus, Myoclonic seizure, Seizure, Extrapyra... OMIM:612389
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Seizure, Akinesia OMIM:225790
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, EEG ... ORPHA:442835
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Seizure OMIM:300352
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Mahvash Disease
Palpitations OMIM:619290
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Pseudo-Torch Syndrome 2
Seizure, Bradycardia, Cerebral hemorrhage OMIM:617397
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Seizure, Apneic episodes in infancy OMIM:610006
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Congenital Disorder Of Glycosylation, Type Im
Seizure, Dilated cardiomyopathy, Bradycardia OMIM:610768
Carnitine Palmitoyl Transferase 1A Deficiency
Seizure, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Seizure ORPHA:320385
Familial Isolated Hypoparathyroidism
Seizure, Arrhythmia ORPHA:2238
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... OMIM:610532
Chorea, Benign Familial
Chorea OMIM:215450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi... ORPHA:276580
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti... OMIM:620242
Muscular Hypertonia, Lethal
Hypertonia, Hypokinesia OMIM:254120
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemic seizures ORPHA:71212
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with... ORPHA:98794
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Multifocal seizures, Ataxia, Involuntary movements, Choreoathetosis, Status epilepticus, Dystonia... OMIM:615905
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... ORPHA:137898
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Seizure, Atten... OMIM:617695
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure ORPHA:459074
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Central hypoventilation, Cardiac arrest, Se... OMIM:620167
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia, Hemipl... OMIM:272300
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Focal motor seizure, Hypsarrhythmia... ORPHA:86309
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia ORPHA:2928
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Mitochondrial Complex I Deficiency, Nuclear Type 10
Seizure, Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal py... OMIM:308350
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Muscular Dystrophy, Congenital, With Or Without Seizures
Focal-onset seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure, Myocloni... OMIM:620166
Leukodystrophy, Hypomyelinating, 4
Seizure, Apnea OMIM:612233
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Diminished movement, Babinski sign,... OMIM:608643
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Benign Paroxysmal Torticollis Of Infancy
Irritability, Ataxia, Abnormal head movements ORPHA:71518
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Apnea, Febrile status epilepticus, Tonic seizure, Seizure, Status epil... OMIM:612949
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Tachycardia ORPHA:276608
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis ORPHA:329284
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... OMIM:603516
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency, Seizure, Myoclonus, Hypertrophic cardiomyopathy OMIM:614462
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hemiparesis, Seizure, Status epilepticus, Dystoni... OMIM:618004
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... OMIM:272750
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia, Focal impaired awarenes... ORPHA:163985
Cystathioninuria
Tremor, Seizure ORPHA:212
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Central Diabetes Insipidus
Seizure, Failure to thrive, Weight loss ORPHA:178029
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Seizure, Apnea, Infantile spasms OMIM:619797
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Apnea, Infantile spasms, Simple febrile se... ORPHA:2524
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Pontocerebellar Hypoplasia, Type 6
Seizure, Generalized-onset seizure, Apnea OMIM:611523
3-Methylglutaconic Aciduria, Type Ix
Epileptic spasm, Clonus, Choreoathetosis, Seizure, Hypertonia, Spasticity, Failure to thrive OMIM:617698
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re... OMIM:618218
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure ORPHA:3124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Seizure, Gait disturbance, Dystonia OMIM:250100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Ch... OMIM:300260
Developmental And Epileptic Encephalopathy 28
Rigidity, Seizure, Status epilepticus, Spasticity, Hypokinesia OMIM:616211
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Hypoadrenocorticism, Familial
Seizure, Apnea OMIM:240200
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... OMIM:302800
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation OMIM:617916
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Compulsive behaviors, Attention deficit hyperactivity disorder, Seizure OMIM:620021
Birk-Aharoni Syndrome
Inability to walk, Chorea, Failure to thrive, Spastic tetraplegia OMIM:620071
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Seizure, Apnea ORPHA:137754
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Seizure ORPHA:261295
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seizure OMIM:615716
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:613839
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Rigidity, Abnormal p... ORPHA:199354
Friedreich Ataxia
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... ORPHA:95
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Seizure, Arrhythmia, Pulmonary embolism ORPHA:624
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit... ORPHA:314655
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Seizure, Agitation, Cognitive impairment, Emotional lability, Abnormal repetit... ORPHA:927
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia, Loss of ambulation,... OMIM:607694
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures ORPHA:94089
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Encephalitis Lethargica
Seizure, Bradycardia ORPHA:83600
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Mitochondrial Complex I Deficiency, Nuclear Type 5
Seizure, Apnea, Respiratory insufficiency OMIM:618226
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of e... ORPHA:289494
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu... ORPHA:75249
Kcnq2-Related Epileptic Encephalopathy
Seizure, Epileptic spasm, Apnea, Generalized tonic seizure ORPHA:439218
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Seizure, Gait disturbance, Dysto... ORPHA:702
Ravine Syndrome
Apnea ORPHA:99852
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Myopathy, Distal, Tateyama Type
Palpitations OMIM:614321
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Shyness, Seizure, Difficulty walking, Abnormal repetitive mannerisms ORPHA:280763
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Peroxisome Biogenesis Disorder 11A (Zellweger)
Seizure, Apnea OMIM:614883
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Alg11-Cdg
Ataxia, EEG with burst suppression, Opisthotonus, Seizure, Hypertonia, Hypokinesia, Limb hypertonia ORPHA:280071
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... OMIM:118300
Congenital Sialidosis Type 2
Abnormal EKG, Seizure, Myoclonus, Telangiectasia ORPHA:93400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Seizure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert... ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation OMIM:301021
Pontocerebellar Hypoplasia, Type 16
Seizure, Apnea OMIM:619527
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Seizure, Irritability, Compulsive behaviors, Atte... OMIM:261600
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Seizure, Lower limb hypertonia, Spastic... ORPHA:3208
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Fetal Akinesia Deformation Sequence
Hypokinesia, Akinesia ORPHA:994
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Seizure, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pul... ORPHA:466650
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Status epilepticus OMIM:613870
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo... ORPHA:500
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Respiratory insufficiency, Hypertension, Seizure OMIM:618886
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... ORPHA:329308
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Seizure, Status epilepticus, Febrile sei... ORPHA:79101
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Developmental And Epileptic Encephalopathy 84
Epileptic spasm, Chorea, Babinski sign, Opisthotonus, Seizure, Dystonia, Spasticity OMIM:618792
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Hypoglycemic seizures ORPHA:324575
Allan-Herndon-Dudley Syndrome
Ataxia, Small for gestational age, Failure to thrive in infancy, Babinski sign, Abnormal pyramida... ORPHA:59
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
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
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:617201
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis ORPHA:228410
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... OMIM:618825
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia, Seizure OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:618228
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Seizure, Dysdiadochokinesis, Hyperto... OMIM:610217
Nasu-Hakola Disease
Oculomotor apraxia, Seizure, Chorea, Spasticity ORPHA:2770
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Seizure, Status epilepticus, Aspiration pneumonia OMIM:618253
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Seizure OMIM:618590
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis, Seizure, Dystonia, Frequent falls OMIM:618416
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc... ORPHA:95232
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Attention deficit h... ORPHA:352490
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... OMIM:616795
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Seizure, Focal impaired awareness seizure, Fai... ORPHA:488613
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Kearns-Sayre Syndrome
Third degree atrioventricular block ORPHA:480
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Seizure ORPHA:772
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile seizure (within... OMIM:614104
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Nabais Sa-De Vries Syndrome, Type 2
Failure to thrive in infancy, Chorea, Hemiparesis, Seizure, Dystonia OMIM:618829
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Seizure, Apneic episodes in infancy, Hypertrophic ... OMIM:618222
Idiopathic Achalasia
Weight loss ORPHA:930
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency OMIM:619322
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Clumsiness, Seizure, ... ORPHA:98768
Apnea, Obstructive Sleep
Focal impaired awareness seizure OMIM:107650
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy, Oral-pharyngeal dysphagia OMIM:616287
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Congenital Myopathy 24
Cardiomyopathy, First degree atrioventricular block OMIM:617336
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Infantile spasms, Bilateral tonic-clonic seizure, Inability to... ORPHA:79243
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation OMIM:613205
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Respiratory failure, Myoclonus, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation OMIM:616166
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... OMIM:617044
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Seizure, Myoclonus ORPHA:97229
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309263
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign, Hypokinesia OMIM:619063
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Apnea, Hyperventilation OMIM:617903
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy OMIM:619566
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia OMIM:619556
Beck-Fahrner Syndrome
Depression, EEG abnormality, Seizure, Impaired social interactions, Attention deficit hyperactivi... OMIM:618798
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Tongue fasciculations, Hypokinesia, Clumsiness OMIM:614707
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic... OMIM:300912
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... OMIM:164400
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dystonia OMIM:277470
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Seizure, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Alternating Hemiplegia Of Childhood
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment OMIM:607734
D-Glyceric Aciduria
Seizure, Chorea, Myoclonus, Spasticity ORPHA:941
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Seizure OMIM:617184
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Intrauterine growth retardation OMIM:619751
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Truncal titubation, Tremor, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke OMIM:611773
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ventricular tachycardia, Premature ven... OMIM:300855
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Congenital Myopathy 12
Akinesia OMIM:612540
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe... ORPHA:530983
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Seizure, Diminished ability to concentrate, Compulsive behaviors, Impaired social interac... OMIM:615656
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Apnea OMIM:616896
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Poor motor coordination, Ataxia, Infantile spasms, Tremor, Rigidity, Chorea, Athetosis,... ORPHA:25
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309271
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Seizure, Abnormal repetitive manneris... ORPHA:228402
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Se... OMIM:615356
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Combined Oxidative Phosphorylation Deficiency 54
Seizure, Tachycardia, Generalized-onset seizure OMIM:619737
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hemiplegia/hemiparesis, Chorea, Dystonia ORPHA:289916
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... ORPHA:395
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Myoclonic absence seizure OMIM:616034
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Seizure, Arrhythmia ORPHA:1194
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:619422
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... OMIM:616505
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... OMIM:271900
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, EEG abnormality, Seizure, I... ORPHA:411511
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Seizure, Cachexia ORPHA:1933
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Seizure, Pulmonic stenosis ORPHA:529962
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Repetitive compulsive behavior, Seizure, EEG abnormality, Attention deficit... ORPHA:391372
Arthrogryposis Multiplex Congenita 5
Akinesia, Hypertonia, Hand tremor, Dystonia OMIM:618947
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Seizure, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Seizure OMIM:606054
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Migraine, Familial Hemiplegic, 3
Seizure OMIM:609634
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... ORPHA:3092
Christianson Syndrome
Generalized-onset seizure, Cachexia, Truncal ataxia, Gait ataxia, Dystonia ORPHA:85278
Congenital Disorder Of Glycosylation, Type Ij
Seizure, Apnea, Infantile spasms, Respiratory insufficiency OMIM:608093
Rett Syndrome, Congenital Variant
Tongue thrusting, Irritability, Athetosis, EEG abnormality, Seizure, Impaired social interactions... OMIM:613454
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Sepsis In Premature Infants
Seizure, Tachycardia, Bradycardia, Hypotension ORPHA:90051
Early-Onset X-Linked Optic Atrophy
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor ORPHA:98890
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Dystonia OMIM:614249
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Seizure, Third degree atrioventricular block OMIM:530000
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Joubert Syndrome 33
Apnea OMIM:617767
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hec Syndrome
Cardiomyopathy, Arrhythmia ORPHA:2119
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Se... ORPHA:348
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Seizure OMIM:601338
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopathy, Seizur... ORPHA:159
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impaired propriocept... ORPHA:88628
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure outside the age of 3 months to 6 years, Aggressive behavior, Fixated interests, T... OMIM:617788
Trisomy X
Tremor, Seizure ORPHA:3375
Mcleod Syndrome
Generalized-onset seizure, Atrial fibrillation, Dilated cardiomyopathy, Cardiomyopathy, Seizure OMIM:300842
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor ORPHA:98771
Stiff-Person Syndrome
Hypertension, Tachycardia, Myoclonic spasms OMIM:184850
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures ORPHA:79444
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure... OMIM:618321
Carnitine Palmitoyltransferase I Deficiency
Seizure, Arrhythmia OMIM:255120
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Seizure, EEG abnormality, Ga... ORPHA:812
Lujo Hemorrhagic Fever
Shock, Bilateral tonic-clonic seizure, Myocarditis, Subconjunctival hemorrhage, Seizure, Bradycar... ORPHA:319213
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Fatigable weak... ORPHA:42
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis OMIM:619435
Singleton-Merten Syndrome 2
Arrhythmia, Aortic valve stenosis OMIM:616298
Mercury Poisoning
Hypertension, Tachycardia, Seizure, Hypotension ORPHA:330021
Chronic Hiccup
Weight loss ORPHA:396
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability... OMIM:218000
Den Hoed-De Boer-Voisin Syndrome
Short attention span, EEG with focal spike waves, Ataxia, Generalized clonic seizure, Inability t... OMIM:619229
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Leber Optic Atrophy
Arrhythmia OMIM:535000
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... OMIM:607485
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Seizure, Asp... OMIM:619482
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Clumsiness, Choreoathetosis, Fal... ORPHA:209905
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... ORPHA:52368
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
48,Xxyy Syndrome
Seizure, Asthma, Apnea ORPHA:10
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired ... OMIM:606002
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Orthostatic Hypotension 1
Seizure, Orthostatic hypotension, Atrial fibrillation OMIM:223360
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Young-Onset Parkinson Disease
Short attention span, Restless legs, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, EEG abnormality, Seizure, Onychotillomania, Abnormal r... OMIM:182290
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia, Seizure ORPHA:228305
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni... ORPHA:255210
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Seizure, Difficulty walking, Spasticit... ORPHA:481152
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... ORPHA:1934
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Seizure, Tics, Attention deficit hyperactivity disorder OMIM:617808
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... ORPHA:447997
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Hyperton... OMIM:617710
Flynn-Aird Syndrome
Seizure, Cachexia, EEG abnormality ORPHA:2047
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Athetosis, Seizure, S... OMIM:617302
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Seizure OMIM:614870
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Seizure, Vocal cord paralysis, Tremor ORPHA:397744
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Myoclonic seizure, Seizure, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Cimdag Syndrome
Ataxia, Chorea, Seizure, Dystonia, Spasticity OMIM:619273
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure OMIM:615398
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthoton... OMIM:619653
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Congenital Insensitivity To Pain With Severe Intellectual Disability
Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure, Small for gestati... ORPHA:453510
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Iu
Seizure, Hypokinesia OMIM:615042
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Biotinidase Deficiency
Respiratory distress, Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizur... ORPHA:79241
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ... OMIM:619777
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis ORPHA:98897
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... OMIM:619467
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure ORPHA:1192
Sialidosis Type 2
Tremor, Seizure, Ataxia ORPHA:87876
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Seizure, Apnea OMIM:210200
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Hypertonia, Spasticity, Failure to thrive ORPHA:544503
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Hereditary Coproporphyria
Seizure, Tachycardia ORPHA:79273
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Mulibrey Nanism
Cachexia ORPHA:2576
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Myoclonic spasms, Hypocalcemic seizures ORPHA:79443
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Epistaxis, Intracranial hemorrhage, Hypertension, Second degree a... ORPHA:369929
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation OMIM:619705
Hsd10 Mitochondrial Disease
Choreoathetosis, Seizure, Spasticity, Spastic tetraplegia OMIM:300438
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Generalized-onset seizure, Status epilepticus ORPHA:564178
Intellectual Developmental Disorder, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potentials, Self-... ORPHA:2388
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Seizure, Failure to thrive, Dystonia ORPHA:79312
Wieacker-Wolff Syndrome
Seizure, Neonatal respiratory distress, Apnea OMIM:314580
Snijders Blok-Fisher Syndrome
Choreoathetosis, Seizure, Spasticity, Opisthotonus OMIM:618604
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity OMIM:617664
Tenorio Syndrome
Apnea, Raynaud phenomenon, Recurrent pneumonia, Seizure, Syncope OMIM:616260
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Seizure, Abnormal repetitive mannerisms OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Gait disturbance, Compulsive behav... OMIM:300986
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Involuntary movements, Inability to walk, Chorea, Seizure, Dystonia OMIM:617804
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti... OMIM:618205
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Smith-Lemli-Opitz Syndrome
Hypertension, Hypertrophic cardiomyopathy, Seizure, Ventricular fibrillation OMIM:270400
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Seizure, Apnea OMIM:261680
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, M... ORPHA:364028
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia ORPHA:3201
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Seizure OMIM:176000
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Seizure, Apnea ORPHA:79644
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia ORPHA:57
Refsum Disease
Heart block, Cardiomyopathy ORPHA:773
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Pelger-Huet Anomaly
Seizure, Lower limb hypertonia, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Cutis Laxa, Autosomal Recessive, Type Iid
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Seizure OMIM:617403
Ataxia-Telangiectasia
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity ORPHA:100
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Leopard Syndrome 1
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... OMIM:151100
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Focal-onset seizure, Dysphagia, Seizure, Status epilepticus, Interictal epilep... OMIM:617802
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G... OMIM:616640
Sandhoff Disease
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temperature sensat... OMIM:268800
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Leigh Syndrome
Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Choreoathetosis, Athet... ORPHA:506
Chromosome 2Q37 Deletion Syndrome
Seizure, Arrhythmia OMIM:600430
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive... OMIM:123450
Joubert Syndrome
Seizure, Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H... OMIM:209880
Holocarboxylase Synthetase Deficiency
Seizure, Ataxia, Weight loss ORPHA:79242
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, Spastic hemipare... ORPHA:268940
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... ORPHA:309256
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Seizure, Gait disturbance, ... ORPHA:58
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity ORPHA:397612
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Severe failure to th... ORPHA:423479
Coach Syndrome 2
Hypertension, Apneic episodes in infancy OMIM:619111
Sneddon Syndrome
Tremor, Seizure, Hemiplegia, Impaired distal tactile sensation OMIM:182410
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Seizure, Hypertonia, Spasticity OMIM:616801
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectasia, Seizur... ORPHA:2038
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... OMIM:619293
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... OMIM:615474
Intellectual Developmental Disorder, X-Linked 12
Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Spasticity OMIM:300957
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Confusion, Hypersexuality, EEG with temporal sha... ORPHA:217253
Erythermalgia, Primary
Palpitations OMIM:133020
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Seizure, Nonprogressive cerebellar ataxia, Dys... ORPHA:431361
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... OMIM:617281
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Seizure OMIM:615918
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized myoclonic seizure, Small for gestational age, Infantile spasms, Inability to walk, Ch... ORPHA:404454
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Hypokinesia OMIM:610498
Fatal Familial Insomnia
Ataxia, Myoclonus, Weight loss OMIM:600072
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Seizure, Reduced left ventricula... ORPHA:99829
Hypophosphatasia, Infantile
Intracranial hemorrhage, Seizure, Apnea OMIM:241500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Seizure, Ataxia, EEG abnormality OMIM:608799
Hemochromatosis, Type 1
Cardiomyopathy, Arrhythmia, Congestive heart failure, Telangiectasia OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Respiratory insufficiency, Seizure,... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure with focal onset, Shortened PR int... OMIM:614947
Glutaric Acidemia I
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Dystonia, Failure to thrive OMIM:231670
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Seizure, Cardiomyopathy ORPHA:373
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia ORPHA:3191
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Babinski sign, Seizure, Dystonia, Neonatal death, Spasticity OMIM:618186
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:620224
Dpm1-Cdg
Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized... ORPHA:79322
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Babinski sign, Ataxia OMIM:604168
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Spasticity OMIM:614961
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... ORPHA:99095
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... ORPHA:72
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:261197
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:96147
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Positive ... OMIM:105210
Joubert Syndrome With Oculorenal Defect
Seizure, Tachypnea, Apnea ORPHA:2318
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb... ORPHA:646
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Bilateral tonic-clonic seizure, Hypop... OMIM:618426
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Spasticity, Failure to thrive in infancy ORPHA:85285
Joubert Syndrome With Renal Defect
Seizure, Apnea, Abnormal pattern of respiration ORPHA:220497
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Serotonin Syndrome
Tachycardia, Hypertension, Seizure, Myoclonus, Hypotension ORPHA:43116
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Severe X-Linked Intellectual Disability, Gustavson Type
Seizure, Apneic episodes in infancy, Myoclonus ORPHA:3078
Ring Chromosome 10 Syndrome
Seizure, Cachexia ORPHA:1438
Rett Syndrome
Inability to walk, EEG abnormality, Seizure, Gait disturbance, Agitation, Difficulty walking, Abn... ORPHA:778
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Seizure, Respiratory failure, Foca... OMIM:616482
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Heart murmur, Mitral regurgitation, S... ORPHA:1330
3-Methylglutaconic Aciduria, Type Viii
Seizure, Bradycardia OMIM:617248
22Q11.2 Duplication Syndrome
Seizure, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... ORPHA:1727
Botulism
Arrhythmia ORPHA:1267
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations ORPHA:206569
Classic Phenylketonuria
Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Typical absenc... ORPHA:845
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk... OMIM:617193
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Cardiomyopathy, Arrhythmia, Seizure ORPHA:228308
Chromosome 18Q Deletion Syndrome
Broad-based gait, Failure to thrive in infancy, Tremor, Chorea, Poor coordination, Seizure OMIM:601808
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Bilateral tonic-clonic s... OMIM:201475
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Seizure,... ORPHA:746
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Aggressive behavior, Emotional lability, Seizure, Diminished ability to concentrat... OMIM:301069
Intermediate Nemaline Myopathy
Hypokinesia, Difficulty walking ORPHA:171433
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Unst... ORPHA:354
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Inabili... OMIM:617799
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Cardiac arrest, Dilated cardiomyopathy, Tachypnea, Seizure, Myoclonus, Hypotension ORPHA:20
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia OMIM:245348
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Pulmonic stenosis OMIM:617506
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Hermansky-Pudlak Syndrome 10
Apnea, Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Gaucher Disease, Type Ii
Apnea, Stridor, Seizure, Cough, Recurrent aspiration pneumonia OMIM:230900
Foodborne Botulism
Arrhythmia ORPHA:228371
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo... OMIM:620070
Wound Botulism
Cardiac arrest ORPHA:178475
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Takayasu Arteritis
Seizure, Weight loss ORPHA:3287
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Inability to walk, Focal-onset seizure, Delayed early-child... ORPHA:300570
Joubert Syndrome With Ocular Defect
Seizure, Apnea, Abnormal pattern of respiration ORPHA:220493
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... OMIM:607459
Familial Or Sporadic Hemiplegic Migraine
Involuntary movements, Impaired temperature sensation, Dissociated sensory loss, EEG with focal s... ORPHA:569
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Death in childhood OMIM:614096
Biotinidase Deficiency
Seizure, Tachypnea, Apnea OMIM:253260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Choreoathetosis, Seizure, Tetraparesis ORPHA:27
Ddost-Cdg
Tremor, Seizure, Oromotor apraxia ORPHA:300536
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S... OMIM:300486
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Seizure, Dystonia,... OMIM:200150
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Athetosis, Seizu... OMIM:615273
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Irritability, Seizure, Obsessive-compulsive trait, Abnormal repetitive manne... OMIM:617796
Warburg Micro Syndrome 3
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My... OMIM:614222
Pontocerebellar Hypoplasia, Type 7
Seizure, Apnea, Myoclonus OMIM:614969
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... ORPHA:97355
Smith-Magenis Syndrome
Self-injurious behavior, EEG abnormality, Seizure, Gait disturbance, Attention deficit hyperactiv... ORPHA:819
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Diminished movement, Paraparesis, Inability ... ORPHA:2912
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms OMIM:613443
Intellectual Developmental Disorder, X-Linked 107
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, S... ORPHA:401777
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
48,Xxxy Syndrome
Irritability, Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... ORPHA:96263
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Seizure, Tip-toe gait, Gait ... ORPHA:512
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Atypical absence status epilepticus, Capillary lea... ORPHA:99826
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bilateral tonic-clonic sei... ORPHA:496641
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, Attention... OMIM:617061
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Seizure OMIM:613730
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy OMIM:609015
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Intrauterine gr... OMIM:608747
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Apnea, Bilateral tonic-cl... OMIM:612313
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... OMIM:618291
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Seizure, Bradykinesia, ... ORPHA:254892
Japanese Encephalitis
Dystonia, Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic seizure, Paralys... ORPHA:79139
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Seizure, Tachycardia ORPHA:263455
Peroxisome Biogenesis Disorder 2A (Zellweger)
Seizure, Apnea OMIM:214110
Tularemia
Tachycardia ORPHA:3392
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Infantile Neuroaxonal Dystrophy
Seizure, Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Renpenning Syndrome
Seizure, Cachexia ORPHA:3242
Bohring-Opitz Syndrome
Seizure, Bradycardia ORPHA:97297
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Seizure, Gait imbalance, Attention deficit hyperactivit... OMIM:619312
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic... ORPHA:391428
Rheumatic Fever
Myocarditis, Pericarditis, Epistaxis, Arrhythmia ORPHA:3099
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... OMIM:620073
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... ORPHA:280365
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Seizure, Myoclonus... ORPHA:206436
Focal Myositis
Weight loss ORPHA:48918
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... ORPHA:314647
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Fasciculations, Difficulty walking, Fr... ORPHA:329478
Mogs-Cdg
Respiratory distress, Hypoventilation, Seizure, Apnea ORPHA:79330
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis OMIM:617186
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy, Seizure OMIM:616342
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Loss of ambulation, Right hemiplegia OMIM:607426
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Autosomal Recessive Spastic Paraplegia Type 77
Seizure, Sudden episodic apnea, Myoclonus ORPHA:466722
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... OMIM:614298
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation OMIM:619003
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Seizure, Arrhythmia ORPHA:2874
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Seizure, Cachexia, EEG abnormality ORPHA:371364
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Seizure, Generalized-onset seizure, Apnea, Respiratory insufficiency OMIM:617527
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... ORPHA:466768
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Seizure, Gait dist... ORPHA:488627
Joubert Syndrome With Hepatic Defect
Seizure, Apnea, Abnormal pattern of respiration, Portal hypertension ORPHA:1454
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Abnormal repetitive... OMIM:617807
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension, Cortical myoclonus ORPHA:428
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Seizure, Ataxia ORPHA:79095
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to wa... OMIM:618143
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S... ORPHA:2203
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Multifocal epileptiform discharges, Focal motor seizure, Irritability, EEG abn... ORPHA:1675
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Cronkhite-Canada Syndrome
Seizure, Cachexia ORPHA:2930
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,... OMIM:278800
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Seizure, Mitral regurgitation, Arrhythmia ORPHA:254346
Wilson Disease
Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Rigidity, Hypoest... OMIM:277900
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Inability to walk, Hypertonia, Rigidity OMIM:620023
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Tuberous Sclerosis Complex
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... ORPHA:805
Niemann-Pick Disease, Type C2
Ataxia, Seizure, Dementia, Dysphagia, Abnormal repetitive mannerisms OMIM:607625
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Primary Unilateral Adrenal Hyperplasia
Hypertension, Palpitations, Epistaxis ORPHA:231580
Acute Bilirubin Encephalopathy
Central apnea, Seizure ORPHA:529799
Chronic Bilirubin Encephalopathy
Central apnea, Seizure ORPHA:529808
Thymic Carcinoma
Fatigable weakness, Weight loss ORPHA:99868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
EEG abnormality, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619005
Cholera
Seizure, Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, Seizure, Tip-toe... ORPHA:157850
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy OMIM:242500
Porphyria Variegata
Hypertension, Tachycardia, Seizure ORPHA:79473
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hyperactivity ... ORPHA:476126
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... OMIM:252160
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Seizure, Epileptic spasm, Infantile spasms OMIM:191100
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Bilateral tonic-clonic seizure, Weight loss, Apraxia, Generalized myoclonic seizure, Fail... ORPHA:99885
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Limb hypertonia OMIM:620327
Ivic Syndrome
Arrhythmia ORPHA:2307
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Ogden Syndrome
Cardiogenic shock, Arrhythmia ORPHA:276432
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Seizure OMIM:618232
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... OMIM:254900
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Fanconi Anemia, Complementation Group O
Neonatal death, Death in infancy, Miscarriage, Short stature OMIM:613390
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Transketolase Deficiency
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... ORPHA:488618
Plaa-Associated Neurodevelopmental Disorder
Seizure, Apnea, Respiratory insufficiency ORPHA:521426
Genitopatellar Syndrome
Seizure, Apnea ORPHA:85201
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Irritability, Self-inju... OMIM:616364
Mast Cell Sarcoma
Weight loss ORPHA:66661
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Dyston... OMIM:616271
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Seizure, Low... ORPHA:319182
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
4Q21 Microdeletion Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:238750
Wolfram Syndrome 1
Tremor, Seizure, Ataxia OMIM:222300
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia ORPHA:572013
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Seizure, Tachycardia ORPHA:1764
Lynch Syndrome
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Seizure, Hypertonia, Paresthesia, G... ORPHA:144
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Seizure, Arrhythmia OMIM:614052
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Difficul... ORPHA:572798
Localized Scleroderma
Raynaud phenomenon, Vasculitis, Seizure, Focal impaired awareness seizure, Arrhythmia ORPHA:90289
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... ORPHA:445038
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure ORPHA:258
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Seizure, Gait disturbance, Myoclonus, Oculomotor apraxia ORPHA:247262
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Seizure, Lower limb hyp... OMIM:619487
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Seizure, Congestive heart failure ORPHA:26791
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block OMIM:617402
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Bilateral Perisylvian Polymicrogyria
Apnea, Infantile spasms, Focal-onset seizure, Seizure, Aspiration, Focal sensory seizure ORPHA:98889
Intellectual Developmental Disorder, Autosomal Dominant 48
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Joubert Syndrome 21
Apnea, Dyspnea, Seizure, Respiratory failure, Chronic sinusitis OMIM:615636
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Congestive heart failure, Seizure, Mit... ORPHA:363705
Follicular Lymphoma
Weight loss ORPHA:545
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Mania, Sei... ORPHA:247585
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Episodic Ataxia Type 1
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia ORPHA:37612
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Orofaciodigital Syndrome Type 6
Seizure, Apnea, Episodic tachypnea ORPHA:2754
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Seizure ORPHA:157
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Short attention span, Multifocal seizures, Aggressive behavior, E... OMIM:301066
Familial Thrombocytosis
Seizure, Weight loss ORPHA:71493
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Cachexia, Tremor, Obesity, Seizure ORPHA:85293
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperacti... OMIM:619575
Pleural Mesothelioma
Weight loss ORPHA:50251
2Q37 Microdeletion Syndrome
Seizure, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... ORPHA:1001
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth, Seizure ORPHA:85212
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Xp21 Deletion Syndrome
Seizure, Apneic episodes in infancy ORPHA:261476
Van Esch-O'Driscoll Syndrome
Impulsivity, Shyness, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mann... OMIM:301030
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Seizure, Hypertonia, Paresthesia, G... ORPHA:440437
Eosinophilic Fasciitis
Paresthesia, Weight loss ORPHA:3165
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Fg Syndrome Type 1
Broad-based gait, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnorm... ORPHA:93932
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Cachexia,... ORPHA:298
Beta-Ketothiolase Deficiency
Ataxia, Weight loss, Seizure, Extrapyramidal dyskinesia, Spasticity ORPHA:134
Legionnaires Disease
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:549
Catastrophic Antiphospholipid Syndrome
Seizure, Chorea ORPHA:464343
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr... ORPHA:522077
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia ORPHA:3220
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... ORPHA:99956
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Clonic seizure, EEG with burst suppression, Spastic... OMIM:615574
Joubert Syndrome 2
Central apnea, Seizure, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Seizure, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Severe Generalized Junctional Epidermolysis Bullosa
Seizure, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia ORPHA:565612
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... OMIM:620330
Wilson Disease
Increased body weight, Weight loss, Clumsiness, Difficulty walking, Failure to thrive ORPHA:905
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Congestive heart failure, Cardiomyopathy, Arrhythmia, Elevated jugular venou... ORPHA:465508
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Seizure, Myoclonus, Hypertrophic cardiomyopathy ORPHA:17
Hennekam-Beemer Syndrome
Seizure, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Palpitations OMIM:171400
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolerance, Abnormal temper t... ORPHA:457279
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Melas
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hem... ORPHA:550
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Congestive heart failure, Cough, Hypertrophic cardiomyopathy ORPHA:579
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Seizure, Apnea, Respiratory insufficiency OMIM:601559
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Seizure, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Webb-Dattani Syndrome
Spasticity, Bilateral tonic-clonic seizure, Obesity OMIM:615926
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Growth delay, Death in childhood, Neonatal death, Intrauterine growth retardation OMIM:245400
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Sudden cardiac death, Congestive heart failure, Dilated cardiomyo... ORPHA:73224
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Tongue thrusting, Unsteady gait, Seizure, Impaired social ... OMIM:606232
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Tremor, Seizure OMIM:619680
Pfapa Syndrome
Weight loss ORPHA:42642
Pilarowski-Bjornsson Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:617682
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Prader-Willi Syndrome Due To Translocation
Head-banging, Seizure, Compulsive behaviors, Impaired social interactions, Attention deficit hype... ORPHA:177907
Peripheral Primitive Neuroectodermal Tumor
Seizure, Torticollis, Somatic sensory dysfunction, Weight loss ORPHA:370348
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge... ORPHA:308552
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation ORPHA:261211
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Birk-Landau-Perez Syndrome
Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Difficulty walking, Dystonia, Oculomo... OMIM:617595
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Bilateral tonic-clonic seizure, Concentric hypertrophic cardiomyopathy, Respiratory insuff... OMIM:252010
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy, Paraparesis, Paraplegia, Hemiparesis ORPHA:79124
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Spondyloenchondrodysplasia
Seizure, Chorea, Spasticity ORPHA:1855
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Seizure, Abnormality of extrapyramidal motor function, Dystonia, S... OMIM:300322
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Respiratory insufficiency, Cardiomyopathy, Seizure ORPHA:3463
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, EEG abnormality, Seizure, Focal impa... ORPHA:468678
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... OMIM:614921
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Scimitar Syndrome
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension ORPHA:185
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Seizure, Epileptic spasm, Infantile spasms OMIM:613254
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Seizure, Palpitations, Hypot... ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Dystonia OMIM:610505
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I... ORPHA:580
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia ORPHA:397
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Boomerang Dysplasia
Neonatal death, Severe short stature OMIM:112310
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Mgat2-Cdg
Seizure, Arrhythmia, Infantile spasms, Reflex asystolic syncope ORPHA:79329
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms ORPHA:500159
Celiac Disease, Susceptibility To, 1
Seizure, Failure to thrive, Ataxia, Weight loss OMIM:212750
Pancreatic And Cerebellar Agenesis
Seizure, Apnea OMIM:609069
Mcdonough Syndrome
Cachexia ORPHA:2471
Cap Polyposis
Weight loss ORPHA:160148
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Seizure, Arrhythmia ORPHA:163746
8P23.1 Microdeletion Syndrome
Seizure, Obesity, Weight loss ORPHA:251071
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Seizure, Stillbirth, Myoclonus, Death in childhood, Neonatal death OMIM:614922
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia OMIM:619184
Malignant Atrophic Papulosis
Seizure, Weight loss ORPHA:679
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Seizure, Dilated cardiomyopathy, Pulmonic stenosis OMIM:619343
Joubert Syndrome 1
Central apnea, Hemifacial spasm, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Bullous Pemphigoid
Weight loss ORPHA:703
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Seizure, Gait disturb... ORPHA:90321
German Syndrome
Hypokinesia ORPHA:2077
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Tetraplegia, Seizure, Generalized myoc... OMIM:257300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Seizure, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Typical Nemaline Myopathy
Waddling gait, Gait disturbance, Hypokinesia ORPHA:171436
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex OMIM:611174
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Seizure, Gait disturbance OMIM:214500
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Argininemia
Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Irritability OMIM:207800
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Seizure, Arrhythmia ORPHA:342
Holoprosencephaly
Failure to thrive in infancy, Chorea, Seizure, Dystonia, Spasticity ORPHA:2162
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Death in adolescence, Seizure, Status epilepticus, Myoclonus, Death in childhoo... OMIM:619055
Whipple Disease
Ataxia, Cachexia, Abnormal pyramidal sign, Seizure, Myoclonus ORPHA:3452
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Acute Intermittent Porphyria
Hypertension, Tachycardia, Seizure ORPHA:79276
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Seizure, Apnea ORPHA:1052
Osteosarcoma
Weight loss ORPHA:668
Tarp Syndrome
Seizure, Apnea ORPHA:2886
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block OMIM:617063
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Atypical absence status epilepticus, Melena, Hypertension ORPHA:652
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Mirizzi Syndrome
Tachycardia ORPHA:521219
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Seizure, Apnea OMIM:300373
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Immunodeficiency 27A
Weight loss OMIM:209950
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity OMIM:608885
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Apnea, Respiratory insufficiency ORPHA:800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Hallermann-Streiff Syndrome
Choreoathetosis, Bilateral tonic-clonic seizure, Small for gestational age OMIM:234100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... OMIM:612199
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Death in infancy OMIM:618835
Pemphigus Vulgaris
Weight loss ORPHA:704
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Death in infancy OMIM:618839
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypokinesia OMIM:613320
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Bresek Syndrome
Neonatal death, Intrauterine growth retardation, Growth delay ORPHA:85284
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Failure to t... ORPHA:268261
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... OMIM:615873
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Seizure, Abnormal social... ORPHA:401973
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Apnea ORPHA:2462
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Seizure, Tracheomalacia, Tra... OMIM:114290
Familial Glucocorticoid Deficiency
Failure to thrive, Hypoglycemic seizures, Weight loss ORPHA:361
Pettigrew Syndrome
Choreoathetosis, Seizure, Spasticity, Gait ataxia OMIM:304340
Late-Onset Isolated Acth Deficiency
Seizure, Failure to thrive, Weight loss ORPHA:199299
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Death in infancy, Focal-onset seizure, Myoclonus OMIM:605711
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Kallmann Syndrome
Ataxia, Tremor, Paraplegia, Seizure, Gait disturbance ORPHA:478
Kleefstra Syndrome
Seizure, Arrhythmia ORPHA:261494
Myopathy, Centronuclear, X-Linked
Hypokinesia OMIM:310400
Chronic Beryllium Disease
Weight loss ORPHA:133
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Lymphedema-Distichiasis Syndrome
Arrhythmia OMIM:153400
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, U... OMIM:614756
Kleefstra Syndrome 1
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Epileptic spasm, Apnea, Breathing dysregulation, Seizure, Myoclonus, Pulmonic st... ORPHA:438213
Laubry-Pezzi Syndrome
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... ORPHA:99094
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Ste... OMIM:212066
Slc39A8-Cdg
Seizure, Sudden episodic apnea ORPHA:468699
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy ORPHA:175
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Kaposi Sarcoma
Weight loss ORPHA:33276
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Difficulty walking, Slend... ORPHA:457359
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Seizure ORPHA:98754
Graft Versus Host Disease
Tachycardia ORPHA:39812
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231226
Vici Syndrome
Seizure, Abnormal posturing OMIM:242840
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Leishmaniasis
Weight loss ORPHA:507
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Seizure ORPHA:98793
Lymphatic Malformation 12
Neonatal death, Death in adolescence OMIM:620014
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Seizure ORPHA:177904
Menkes Disease
Seizure, Chorea, Hypertonia, Spasticity ORPHA:565
Nephroblastoma
Weight loss ORPHA:654
Afibrinogenemia, Congenital
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:202400
Polyarteritis Nodosa
Weight loss ORPHA:767
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Seizure ORPHA:177901
Koolen-De Vries Syndrome Due To A Point Mutation
Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizure, EEG with focal epilepti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizure, EEG with focal epilepti... ORPHA:363958
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Alveolar Echinococcosis
Hemiparesis, Seizure, Ataxia, Weight loss ORPHA:284
Ulnar-Mammary Syndrome
Arrhythmia ORPHA:3138
Simple Cryoglobulinemia
Seizure, Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Seizure ORPHA:369950
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Semilobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Seizure, Aspiration pneumonia, Abnormal pattern o... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Seizure, Aspiration pneumonia, Abnormal pattern o... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal heart rate variability, Seizure, Aspiration pneumonia, Abnormal pattern o... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Seizure, Aspiration pneumonia, Abnormal pattern o... ORPHA:93924
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona... ORPHA:221
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, G... OMIM:280000
Oculodentodigital Dysplasia
Seizure, Arrhythmia OMIM:164200
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Bilateral tonic-clonic seizure ORPHA:2751
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Seizure, Hypertonia, Tetra... OMIM:615846
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Tetrasomy 12P
Cachexia ORPHA:884
Severe Congenital Nemaline Myopathy
Hypokinesia ORPHA:171430
Kawasaki Disease
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia ORPHA:2331
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abno... ORPHA:464311
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Yao Syndrome
Weight loss OMIM:617321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Seizure OMIM:618810
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231214
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Acute Adrenal Insufficiency
Seizure, Failure to thrive, Weight loss ORPHA:95409
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Seizure, Myoclonus OMIM:619167
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Seizure, Typical absence seizure ORPHA:352665
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Gait disturbance, Weight loss ORPHA:183
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Severe short stature, Disproportionate short-limb short stature OMIM:224410
Pagod Syndrome
Arrhythmia, Sudden cardiac death ORPHA:991
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Oculodentodigital Dysplasia
Seizure, Arrhythmia ORPHA:2710
Rheumatoid Arthritis
Weight loss OMIM:180300
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Seizure, Recurrent hand flapping, Abnormal repetitive... OMIM:615485
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Inability to walk, Seizure, Febrile ... ORPHA:459070
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Abcd Syndrome
Neonatal death OMIM:600501
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure OMIM:301044
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Oculopharyngodistal Myopathy 1
Tremor, Ataxia, Difficulty walking, Weight loss OMIM:164310
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Norrie Disease
Irritability, Self-injurious behavior, EEG abnormality, Seizure, Attention deficit hyperactivity ... ORPHA:649
Isolated Posterior Meningocele
Paraplegia, Hypertonia, Upper limb spasticity, Difficulty walking, Hypokinesia ORPHA:268810
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Igg4-Related Aortitis
Weight loss ORPHA:449400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Portal hypertension, Asthma, Seizure, Ischemic stroke, Foca... OMIM:619503
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Gaucher Disease
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Hemiplegia/hemipar... ORPHA:355
Pitt-Hopkins Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Wolman Disease
Cachexia ORPHA:75233
Amoebiasis Due To Free-Living Amoebae
Seizure, Arrhythmia ORPHA:68
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Behçet Disease
Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Seizure, Paresthesia, Gait disturbance ORPHA:117
Systemic Lupus Erythematosus
Seizure, Chorea ORPHA:536
Ménétrier Disease
Weight loss ORPHA:2494
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build OMIM:603041
Riddle Syndrome
Ataxia, Weight loss, Clumsiness, Gait disturbance, Poor hand-eye coordination ORPHA:420741
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Brucellosis
Chorea, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Aredyld Syndrome
Cachexia ORPHA:1133
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Mednik Syndrome
Neonatal death, Death in infancy, Growth delay, Death in childhood OMIM:609313
Klatskin Tumor
Weight loss ORPHA:99978
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Short stature OMIM:619859
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Bannayan-Riley-Ruvalcaba Syndrome
Seizure, Cachexia ORPHA:109
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Cachexia ORPHA:220295
Felty Syndrome
Weight loss ORPHA:47612
Pneumocystosis
Weight loss ORPHA:723
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic se... ORPHA:2072
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, EEG abnormality, Seizure, Compulsive behaviors, Attention de... ORPHA:534
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Short Syndrome
Weight loss ORPHA:3163
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Seizure, Bruxism ORPHA:48652
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Microcephaly 29, Primary, Autosomal Recessive
Seizure, Hyperactivity, Emotional lability OMIM:620047
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Refractory Celiac Disease
Weight loss ORPHA:398063
Primary Sjögren Syndrome
Seizure, Chorea, Somatic sensory dysfunction ORPHA:289390
Poems Syndrome
Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Addison Disease
Seizure, Failure to thrive, Weight loss ORPHA:85138
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitatio... ORPHA:2556
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Cardiomyopathy, Seizure, Hypertension, Arrhythmia ORPHA:217085
Cockayne Syndrome
Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Inability to walk, Seizure, Progres... ORPHA:191
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Inability to walk, Seizure, Abnormal repetitive mannerisms, Focal myoc... ORPHA:508533
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Seizure, Truncal ataxia, Abnormal re... OMIM:617330
Microsporidiosis
Seizure, Cachexia, Weight loss ORPHA:2552
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Cardiomyopathy, Seizure, Hypertension, Arrhythmia ORPHA:217093
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Noonan Syndrome
Arrhythmia ORPHA:648
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Cockayne Syndrome B
Hypertension, Arrhythmia, Seizure OMIM:133540
Cockayne Syndrome A
Hypertension, Arrhythmia, Seizure OMIM:216400
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Budd-Chiari Syndrome
Weight loss ORPHA:131
Primary Myelofibrosis
Cachexia ORPHA:824
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Xfe Progeroid Syndrome
Poor coordination, Failure to thrive, Cachexia OMIM:610965
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Specc1L-Related Hypertelorism Syndrome
Arrhythmia ORPHA:1519
Thymoma
Weight loss ORPHA:99867
Erdheim-Chester Disease
Ataxia, Weight loss ORPHA:35687
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Growth delay, Seizure, Focal impaired awareness seizure, Neonatal death, Intrauterine growth reta... OMIM:618500
Cystic Echinococcosis
Weight loss ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Nocardiosis
Seizure, Weight loss ORPHA:31204
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Apnea ORPHA:285
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia, Seizure OMIM:256040
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Polycythemia Vera
Weight loss ORPHA:729
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:468631
Pancreatoblastoma
Weight loss ORPHA:677
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Mitral regurgitation, Atrial fibrillation, Pulmonic stenosis ORPHA:284984
Rat-Bite Fever
Diminished movement ORPHA:31205
1P36 Deletion Syndrome
Polyphagia, Self-injurious behavior, EEG abnormality, Seizure, Gait disturbance, Dysphagia, Abnor... ORPHA:1606
Mucolipidosis Type Ii
Inability to walk, Weight loss ORPHA:576
Multiple Myeloma
Paresthesia, Weight loss ORPHA:29073
Pyomyositis
Weight loss ORPHA:764
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Failure to thrive, Weight loss ORPHA:2020
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:218040
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Tropical Pancreatitis
Weight loss ORPHA:103918
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Caroli Disease
Weight loss ORPHA:53035
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Q Fever
Weight loss ORPHA:781
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Tics, Attention defi... OMIM:259050
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Trisomy 18
Hypertonia, Cachexia ORPHA:3380
Castleman Disease
Weight loss ORPHA:160
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Ulnar-Mammary Syndrome
Arrhythmia OMIM:181450
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Camurati-Engelmann Disease
Waddling gait, Slender build, Ataxia, Cachexia ORPHA:1328
Arboleda-Tham Syndrome
Seizure, Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Stickler Syndrome
Arrhythmia ORPHA:828
Malt Lymphoma
Weight loss ORPHA:52417
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Weight loss ORPHA:60025
Seckel Syndrome
Cachexia ORPHA:808
Wolf-Hirschhorn Syndrome
EEG abnormality, Seizure, Abnormal repetitive mannerisms OMIM:194190
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Immunodeficiency 31C
Weight loss OMIM:614162
Williams Syndrome
Ataxia, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention deficit hyperactivity ... ORPHA:904
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Focal-onset seizure, Dysphagia, Seizure, Status epil... ORPHA:2152
Degcags Syndrome
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis OMIM:619488
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Reactive Arthritis
Weight loss ORPHA:29207
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Seizure, Atypical absence seizure ORPHA:261537
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920
Ppoma
Weight loss ORPHA:97278
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Seizure, Atypical absence seizure ORPHA:261552
Fanconi Anemia
Weight loss ORPHA:84
Somatostatinoma
Weight loss ORPHA:97283
Loeys-Dietz Syndrome 3
Mitral regurgitation, Atrial fibrillation, Pulmonic stenosis, Subarachnoid hemorrhage OMIM:613795
Lowe Oculocerebrorenal Syndrome
Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Glucagonoma
Weight loss ORPHA:97280
Coffin-Siris Syndrome 12
Seizure, Abnormal repetitive mannerisms OMIM:619325
Postinfectious Vasculitis
Weight loss ORPHA:48435
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Shuffling gait, Weight loss ORPHA:740
Pallister-Killian Syndrome
Seizure, Apneic episodes in infancy, Aortic valve stenosis, Hypertrophic cardiomyopathy, Hyperven... OMIM:601803
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Proteus Syndrome
Seizure, Cachexia ORPHA:744
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Simpson-Golabi-Behmel Syndrome, Type 1
Cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:312870
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Increased body weight, Weight loss, Truncal obesity... ORPHA:99889
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
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
Alström Syndrome
Typical absence seizure ORPHA:64
Goodpasture Syndrome
Weight loss OMIM:233450

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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