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Gene: Cacna1g MGI:1201678

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Gene Summary

Name:
calcium channel, voltage-dependent, T type, alpha 1G subunit
Synonyms:
a1G,  Cav3.1d

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Cacna1gem1(IMPC)Mbp HOM Early adult 5.92×10-17

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cacna1g 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 Cacna1g by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Multifocal epileptiform discharges, Dysmetria, Cerebellar hypoplasia, ... OMIM:618087
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803

The table below shows human diseases predicted to be associated to Cacna1g by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait OMIM:300750
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, EEG... OMIM:600143
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... OMIM:617771
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... OMIM:607682
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, EEG abnormality, Neurodegeneration OMIM:610951
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Nathalie Syndrome
Abnormal EKG OMIM:255990
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
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
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Myoclonus, Atypical absence... ORPHA:2382
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
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
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... ORPHA:94122
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, Gait ataxia, Choreoathetosis, ... ORPHA:225154
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
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
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, EEG abnormality, Hypertonia, Olivopontocerebellar atrophy, Cerebral cortical atrophy ORPHA:2732
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Hyps... OMIM:616409
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Hypsarrhythmia, G... ORPHA:204
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... OMIM:617113
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Landau-Kleffner Syndrome
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... ORPHA:98818
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Nathalie Syndrome
Arrhythmia ORPHA:2663
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, EEG with photoparoxysmal respon... OMIM:616230
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... OMIM:613855
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Focal motor seizure, ... OMIM:617665
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
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Normal interictal EEG, Focal se... OMIM:602066
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia, EEG with generalized polyspikes OMIM:614706
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Gait ataxia ORPHA:423296
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... ORPHA:86909
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... ORPHA:282166
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure, EEG abnormality OMIM:612621
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Myoclonic-Atonic Epilepsy
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... OMIM:616421
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, EEG abnormality ORPHA:86814
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, EEG with burst suppression, Myoclonic seizure, Hypsarrhythmia, Se... OMIM:617929
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Neuronal loss in central nerv... OMIM:600795
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... ORPHA:35878
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, EEG with burst suppression, M... ORPHA:3006
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... OMIM:610357
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Camos Syndrome
Ataxia, Spasticity, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramid... ORPHA:83472
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
EEG with focal spikes, Ataxia, Cerebellar hypoplasia, Cerebral atrophy OMIM:616917
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity OMIM:615889
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigment, Abnormal cerebellum morphol... OMIM:162350
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Chorea, Benign Familial
Chorea OMIM:215450
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Gait disturbance, Aplasia/Hypoplasia of the cereb... ORPHA:2572
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... OMIM:617711
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619913
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Atax... OMIM:607250
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Spinocerebellar Ataxia 12
Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H... OMIM:604326
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... OMIM:617836
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... OMIM:613728
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ... OMIM:117360
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... ORPHA:314603
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Abnormal pyramida... OMIM:256600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, G... OMIM:615157
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Distal sensory impairment OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, EEG abnormality... OMIM:271980
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... OMIM:236792
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... ORPHA:98
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... OMIM:618369
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, C... OMIM:607136
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... ORPHA:94124
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... ORPHA:228360
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Urocanase Deficiency
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a... OMIM:617810
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy OMIM:618501
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Axonal degenerati... OMIM:614436
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Simple febrile seizure, Focal-onset seizure, ... ORPHA:1949
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, P... ORPHA:280234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... OMIM:615643
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio... OMIM:159550
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... ORPHA:79263
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Typical abs... ORPHA:2590
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... ORPHA:101070
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Generalized non-motor (absence) seizure, Multifocal epileptiform discharges, Hy... ORPHA:411986
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Focal Cortical Dysplasia, Type Ii
Hemiparesis, Astrocytosis OMIM:607341
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Glios... OMIM:221820
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi... OMIM:302800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Illum Syndrome
Bradycardia OMIM:208155
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Lo... OMIM:270550
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Astrocytosis, Bradyki... OMIM:601104
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... OMIM:611390
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Urocanic Aciduria
Action tremor, Ataxia, Truncal ataxia, Gait ataxia ORPHA:210128
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical ... ORPHA:168491
Infantile Convulsions And Choreoathetosis
Focal-onset seizure, Seizure, Complex febrile seizure, Focal impaired awareness seizure, Experien... ORPHA:31709
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, EEG abnormality, Dysdiadochokinesis, C... ORPHA:313772
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Impaired distal vibration sensation, Tongue fasciculations, Fasciculations, Upper motor n... ORPHA:276435
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Narcolepsy 3
Narcolepsy OMIM:609039
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... OMIM:115195
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Distal sensory impairment, Tetraplegia, Degeneration of anterio... OMIM:604484
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor aprax... OMIM:208920
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia OMIM:618387
Cln3 Disease
T-wave inversion, Bradycardia ORPHA:228346
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at... OMIM:614575
Narcolepsy 1
Narcolepsy OMIM:161400
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Atrophy of the spi... OMIM:602433
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Developmental And Epileptic Encephalopathy 110
Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, Focal impa... OMIM:620149
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls OMIM:615217
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... OMIM:610217
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myocloni... OMIM:620166
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Hypsarrhythmia, Seizure, Foca... ORPHA:95232
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Variegate Porphyria
Tachycardia OMIM:176200
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Parkinsonism, Tremor, Babinsk... OMIM:614298
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... ORPHA:98795
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... OMIM:203700
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Krabbe Disease
Diffuse cerebral atrophy, Decreased nerve conduction velocity, EEG abnormality, Hypertonia, Neuro... OMIM:245200
Atrial Fibrillation, Familial, 1
Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 5
Atrial fibrillation OMIM:611494
Atrial Fibrillation, Familial, 2
Atrial fibrillation OMIM:608988
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertoni... ORPHA:309854
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Clumsiness, B... ORPHA:352582
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, A... OMIM:616267
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Narcolepsy 7
Narcolepsy OMIM:614250
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:109150
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Periventricular Nodular Heterotopia 7
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Hypsarrhythmia OMIM:617201
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Seizure, EEG with generalized sharp slow... ORPHA:79101
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Impaired pain sensation ORPHA:99014
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Myoclonic absence seizure, Eating-induced seizure ORPHA:544254
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Macrogyria, Titubation, Gliosis,... ORPHA:280210
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Gli... ORPHA:683
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Pontocerebellar atrophy, Lissencephaly, Pachygyria ORPHA:258
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Limb fasciculations, Somatic sensory dysfunction, Distal sensory impairment ORPHA:90117
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... OMIM:146500
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration OMIM:615919
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... ORPHA:79244
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Fatigable weakness of bulbar muscles, Motor neuron atro... ORPHA:803
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Multifocal epileptiform discharges, Dysmetria, Cerebellar hypoplasia, ... OMIM:618087
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:613839
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, EEG wi... ORPHA:457351
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia OMIM:619911
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Rigidity, Spastic tetraplegia, Chiari type I malformation, N... OMIM:618476
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... OMIM:607483
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Generalized clonic seizure, Focal-onset seizure, Generalized non-moto... OMIM:619229
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
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
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... ORPHA:420492
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Neuronal Intranuclear Inclusion Disease
Tremor, Somatic sensory dysfunction, Ataxia, Rigidity OMIM:603472
Behr Syndrome
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls OMIM:210000
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... ORPHA:289494
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis, Neurodegeneration, Spasticity, Neuronal loss in central nervous system OMIM:616239
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Hypsarrhythmia, Gliosis, Myoc... OMIM:618321
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Gliosis, Cerebellar hypoplasia, Brain atrophy, Neur... OMIM:214150
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... ORPHA:478029
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Limb myoclonus, Gait ataxia, Pi... ORPHA:3095
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity OMIM:617435
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Myoclonic absence seizure OMIM:616034
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity OMIM:607694
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
D-Glyceric Aciduria
Bradycardia OMIM:220120
Cockayne Syndrome Type 3
Dense calcifications in the cerebellar dentate nucleus, Unsteady gait, Astrocytosis, Difficulty w... ORPHA:90324
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity ORPHA:542310
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... ORPHA:458803
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... ORPHA:1880
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
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Myo... OMIM:616505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... OMIM:615398
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... ORPHA:363400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Cystathioninuria
Tremor ORPHA:212
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Seizure, Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure OMIM:300260
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Dysmetria OMIM:614867
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... OMIM:606002
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Encephalitis Lethargica
Bradycardia ORPHA:83600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a... OMIM:616878
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Intellectual Developmental Disorder, Autosomal Dominant 53
EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-c... OMIM:617798
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:529665
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... OMIM:620224
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Angelman Syndrome
Infantile spasms, Seizure, EEG abnormality, Status epilepticus, Myoclonus, Atypical absence seizu... ORPHA:72
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Dpm1-Cdg
Early onset absence seizures, Seizure, Generalized myoclonic seizure, Atonic seizure, Generalized... ORPHA:79322
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:96147
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia OMIM:612164
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... ORPHA:369837
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
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
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Chediak-Higashi Syndrome
Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance, Neurodegeneration OMIM:214500
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block ORPHA:392
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia ORPHA:314404
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... ORPHA:447788
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Infantile spasms, Focal tonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, ... ORPHA:404454
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... ORPHA:447753
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Histidinemia
Hyperactivity ORPHA:2157
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168605
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Tay-Sachs Disease
Seizure, Typical absence seizure, Focal impaired awareness seizure, Myoclonus ORPHA:845
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
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
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
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
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Congenital Heart Defects, Multiple Types, 9
Pulmonic stenosis, Left axis deviation OMIM:620294
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,... OMIM:619475
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
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
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... ORPHA:268261
Niemann-Pick Disease Type C
Narcolepsy, Progressive gait ataxia, Ataxia, Gait disturbance ORPHA:646
Helsmoortel-Van Der Aa Syndrome
Seizure, Typical absence seizure, Tonic seizure OMIM:615873
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
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Mucopolysaccharidosis, Type Ii
Neurodegeneration OMIM:309900
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:620330
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Hurler Syndrome
Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
African Trypanosomiasis
Akinesia, Narcolepsy, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst... ORPHA:365
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Mowat-Wilson Syndrome
Focal-onset seizure, Seizure, Status epilepticus, Atypical absence seizure, EEG with spike-wave c... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Seizure, Atypical absence seizure, EEG abnormality ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Seizure, Atypical absence seizure, EEG abnormality ORPHA:261552
Primrose Syndrome
Neurodegeneration, Ataxia OMIM:259050
Alström Syndrome
Typical absence seizure ORPHA:64

Histopathology

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

There is no histopathology data for Cacna1g

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 Cacna1g.

No publications found that use IMPC mice or data for Cacna1g.

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
Cacna1gem1(IMPC)Mbp Exon Deletion Mice, Tissue
Cacna1gtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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