Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 5.59×10-17

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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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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.

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
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spastic Paraplegia 34, X-Linked
Babinski sign, Clonus, Paraplegia, Spastic gait, Impaired vibratory sensation, Spastic paraplegia OMIM:300750
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... OMIM:615744
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic seizure, Atypical absence seizure, Myoclonic absenc... OMIM:618596
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:611634
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Intellectual Developmental Disorder, Autosomal Recessive 53
Ataxia, EEG with focal spikes, Cerebellar hypoplasia, Cerebral atrophy OMIM:616917
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Atypical absence seizure, Hypsarrhythmia OMIM:617771
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... ORPHA:139426
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... OMIM:609446
Spinocerebellar Ataxia Type 5
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, EEG abnorm... OMIM:600143
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, EEG... OMIM:617831
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617924
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... OMIM:254800
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Ataxia, Inability to walk, EEG abnormality, Cerebellar hypoplasia OMIM:618174
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Glutathionuria
Tremor OMIM:231950
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Spasticity, Apraxia OMIM:615889
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Nathalie Syndrome
Abnormal EKG OMIM:255990
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking ORPHA:363432
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Abasia OMIM:209100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis atrophy, Cerebellar vermis h... OMIM:117360
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... ORPHA:94122
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Hand tremor, Somatic sensory dysfunction OMIM:300905
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Ataxia, EEG abnormality, Cerebral atrophy OMIM:610951
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Ataxia, Limb ataxia, Gait... OMIM:617018
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Familial Infantile Bilateral Striatal Necrosis
Gait disturbance, Dystonia, Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... ORPHA:225154
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... OMIM:618876
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... ORPHA:2382
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
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
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Immunodeficiency 8
Hyperactivity OMIM:615401
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Neuronal loss in central nervous system, Gliosis, Myoclonus, Hypsarrhythmia, Abnor... ORPHA:204
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Spastic Paraplegia 80, Autosomal Dominant
Gait disturbance, Babinski sign, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology OMIM:618418
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... OMIM:617665
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Olivopontocerebellar atrophy, Hypertonia, EEG abnormality, Cerebral cortical atrophy ORPHA:2732
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Generalized-onset seizure, Generalized non-motor (absenc... ORPHA:79137
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (a... OMIM:618141
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... OMIM:601068
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... ORPHA:100070
Nathalie Syndrome
Arrhythmia ORPHA:2663
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:162350
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Developmental And Epileptic Encephalopathy 18
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... OMIM:615476
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Dystonia, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
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
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... ORPHA:98818
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Cerebellar atrophy, EEG abnormality OMIM:614706
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... OMIM:610245
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Clumsiness, Babinski sign, Chorea, Global brain atrophy, Neu... ORPHA:282166
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia OMIM:615705
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... OMIM:619157
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Chorea, Abnormality of e... OMIM:617672
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Hyperinsulinism-Hyperammonemia Syndrome
EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... ORPHA:35878
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Astro... ORPHA:275864
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Cerebellar hypoplasia, Spasticity, Uns... OMIM:615768
Epilepsy, Progressive Myoclonic, 6
Seizure, Myoclonus, Generalized non-motor (absence) seizure, Atonic seizure OMIM:614018
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... ORPHA:3006
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Epilepsy, Familial Temporal Lobe, 4
Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure OMIM:611631
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Benign Occipital Epilepsy
EEG with occipital focal spike waves, Focal impaired awareness seizure ORPHA:25968
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia, Cerebral degeneration OMIM:260970
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:36387
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower... ORPHA:95434
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Camos Syndrome
Progressive extrapyramidal movement disorder, Ataxia, Aplasia/Hypoplasia of the cerebellum, Brain... ORPHA:83472
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... OMIM:617633
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brains... OMIM:612319
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Gordon Holmes Syndrome
Ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:212840
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure ORPHA:86814
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Bradykinesia, Sp... OMIM:615643
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... OMIM:617836
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy OMIM:192600
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:204300
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Behr Syndrome
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... OMIM:213200
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis OMIM:609161
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Cerebella... ORPHA:314603
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia OMIM:616267
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Dravet Syndrome
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... ORPHA:33069
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus OMIM:125370
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Babinski sign, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... OMIM:612020
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Fasciculations,... OMIM:615491
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Cerebellar vermis atrophy, Corpus callosum atrophy, In... OMIM:619389
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Seizures, Benign Familial Infantile, 2
Generalized-onset seizure, Focal-onset seizure OMIM:605751
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... OMIM:607745
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Developmental And Epileptic Encephalopathy 12
Generalized-onset seizure, Hypsarrhythmia, Focal-onset seizure OMIM:613722
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Abnormal motor evoked potentials, Dy... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... OMIM:615373
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Chorea, Benign Familial
Chorea OMIM:215450
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... ORPHA:98763
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Inability to walk, EEG abnormality, Spasticity, Difficulty walking, ... OMIM:617829
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Steppage gait, Global brain atrophy, Spastic dysarthria, Impaired... ORPHA:94124
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:618501
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral atrophy OMIM:607250
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Familial Focal Epilepsy With Variable Foci
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... ORPHA:98820
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia ORPHA:438134
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Normal interictal EEG, Generalized-onset seizure, Focal-onset seizure OMIM:602066
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Decrease... OMIM:256600
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... ORPHA:79263
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia ORPHA:542306
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, EEG abnormality, Generalized myoclon... OMIM:271980
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, EEG abnormality, Atonic seizure, Generalized n... OMIM:617810
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... ORPHA:2590
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetr... OMIM:615924
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, EEG abnormality, Cerebral atrophy OMIM:612126
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Astrocytosis, Cerebral atrophy OMIM:600333
Kohlschutter-Tonz Syndrome
Hypsarrhythmia, Ataxia, Spasticity, Cerebellar hypoplasia, Cerebral atrophy OMIM:226750
Null Syndrome
Decreased nerve conduction velocity, Ataxia, Inability to walk, Difficulty walking, Progressive s... ORPHA:280234
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Distal sensory impairment, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Steppage gait, Axonal degeneration, Fasciculations, Di... OMIM:614436
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... ORPHA:453521
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia OMIM:601493
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... ORPHA:208513
Ataxia-Pancytopenia Syndrome
Babinski sign, Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Distal sensory... OMIM:159550
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100999
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Focal impaired awar... OMIM:245570
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradykinesia, Cerebellar vermis atroph... ORPHA:248111
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Limb myoclonus, Focal clonic seizure, Focal tonic seiz... ORPHA:1949
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... OMIM:609195
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Corpus callosum atrophy, Spasti... OMIM:618088
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity OMIM:616140
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, F... ORPHA:178469
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Hypsarrhythmia, Multifocal epilept... ORPHA:411986
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia OMIM:613424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block OMIM:616812
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... ORPHA:101070
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis, Myoclonus, Astro... OMIM:203700
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Developmental And Epileptic Encephalopathy 47
Gait disturbance, Cerebellar atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, Inabili... OMIM:617166
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Neurodegeneration, Chorea, Br... OMIM:606159
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15