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Gene: Hcn1 MGI:1096392

Gene Summary

Name:

hyperpolarization activated cyclic nucleotide gated potassium channel 1

Synonyms:

Bcng1, C630013B14Rik, hyperpolarization-activated, cyclic nucleotide-gated K+ 1, HAC2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Hcn1^em1(IMPC)H	HOM	Early adult	3.94×10^-08
decreased locomotor activity	Hcn1^em1(IMPC)H	HOM	Early adult	1.38×10^-05
abnormal locomotor behavior	Hcn1^em1(IMPC)H	HOM	Early adult	1.05×10^-05
abnormal auditory brainstem response	Hcn1^em1(IMPC)H	HOM	Early adult	6.20×10^-05
increased heart weight	Hcn1^em1(IMPC)H	HOM	Early adult	1.51×10^-05
prolonged RR interval	Hcn1^em1(IMPC)H	HOM	Early adult	1.89×10^-13
abnormal gait	Hcn1^em1(IMPC)H	HOM	Early adult	5.71×10^-18
decreased heart rate	Hcn1^em1(IMPC)H	HOM	Early adult	5.12×10^-08
tremors	Hcn1^em1(IMPC)H	HOM	Early adult	8.63×10^-07

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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

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Hcn1 mutations

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

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

Human diseases associated with Hcn1 (4 diseases)
Human diseases predicted to be associated with Hcn1 (747 diseases)

The table below shows human diseases associated to Hcn1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,...	ORPHA:36387
Developmental And Epileptic Encephalopathy 24	Attention deficit hyperactivity disorder	OMIM:615871
Generalized Epilepsy With Febrile Seizures Plus, Type 10		OMIM:618482

The table below shows human diseases predicted to be associated to Hcn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Mania, Depression	OMIM:125480
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
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
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto...	OMIM:614860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Dementia, Abnorma...	ORPHA:79262
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty...	OMIM:613608
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Depression, Bradykinesia, Dementia, Gait distu...	OMIM:616710
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Progressive Myoclonic Epilepsy Type 1	EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je...	ORPHA:308
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Epilepsy, Progressive Myoclonic 7	Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus, Mental deterioration	OMIM:616187
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Depression, Focal...	ORPHA:216873
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Cln3 Disease	Extrapyramidal muscular rigidity, Ataxia, Optic atrophy, Loss of ambulation, Depression, Bradykin...	ORPHA:228346
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l...	OMIM:128235
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Hearing impairment, Gait ataxia	ORPHA:217012
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity	ORPHA:309169
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movements, Or...	ORPHA:454887
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at...	OMIM:615768
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Spinocerebellar Ataxia Type 37	Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait dist...	ORPHA:363710
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Tremor, Abnormal pyramidal sign, Prelingual sensorineural he...	ORPHA:52368
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Symmetrical Thalamic Calcifications	Ataxia, Spasticity, EEG abnormality, Hypertonia, Cognitive impairment, Arrhythmia	ORPHA:1314
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R...	OMIM:617284
Late-Infantile/Juvenile Krabbe Disease	Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, G...	ORPHA:206443
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment, EEG with sp...	OMIM:614018
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Cardiac arrest, Spasticity, Irritability, Bradycardia, Hypert...	OMIM:618235
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai...	OMIM:615528
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia	OMIM:310095
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Spasticity, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Hearin...	OMIM:616277
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Syncope, Gait disturbance, D...	OMIM:603472
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental ...	OMIM:615924
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm...	ORPHA:320401
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul...	ORPHA:599373
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypsarrhythmia	OMIM:619561
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm...	ORPHA:240085
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Parkinsonism, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia, Progressive he...	OMIM:609286
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Steppage gait, H...	OMIM:609260
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Tremor, Inability to walk, Emotional lability, Macrotia	OMIM:616269
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Familial Dyskinesia And Facial Myokymia	Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w...	ORPHA:324588
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Tremor, Gait disturbance, Abnormal nerve conduction velocity, Hearing impairment	ORPHA:101075
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Hearing impairment	OMIM:620270
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ...	ORPHA:71517
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi...	OMIM:618093
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Abnormal sens...	ORPHA:276435
Leber Hereditary Optic Neuropathy	Postural tremor, Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Arrhyt...	ORPHA:104
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Cardiac arrest, Low-set ears	OMIM:618951
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking	OMIM:615048
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Truncal ataxia, Prominent antihelix, Bradycardia, Dystonia, Macrotia, Int...	OMIM:614407
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Focal EEG discharges with ...	ORPHA:3077
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia...	ORPHA:1368
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance, Hearing impairment	ORPHA:101078
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Hearing impairment, Chorea, Froment sign, Myoclonus, Head tremor, Apraxi...	OMIM:620158
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, EEG abnormality, Dystonia	OMIM:612126
Ravine Syndrome	Spasticity, Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl...	ORPHA:521406
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty...	ORPHA:98764
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu...	OMIM:261630
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ...	OMIM:212138
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsines...	ORPHA:79263
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia...	ORPHA:98890
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, High-frequency sensorineural hearing impairment, Tremor, Inability to walk, Sensor...	ORPHA:2590
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Optic disc pallor, Involuntary movements, Decreased nerve conduction veloc...	ORPHA:565624
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Atypical Progressive Supranuclear Palsy Syndrome	Freezing of gait, Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph...	OMIM:256731
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrophy, Hypertonia, Bradycard...	OMIM:614498
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Developmental And Epileptic Encephalopathy 56	EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ...	OMIM:617665
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Spasticity, Bradycardia, Dystonia, Hypertrophi...	OMIM:614702
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno...	ORPHA:98933
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i...	OMIM:165300
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen...	ORPHA:227510
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im...	OMIM:615483
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno...	ORPHA:280219
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy...	OMIM:619048
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ...	OMIM:606703
Tetanus	Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Abnormal auto...	ORPHA:3299
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairm...	ORPHA:542310
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hypertonia, Bradycardia, Dystonia	OMIM:614654
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia...	OMIM:617225
Lichtenstein-Knorr Syndrome	Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis...	OMIM:616291
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo...	OMIM:619028
Illum Syndrome	Bradycardia	OMIM:208155
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Spastic Paraparesis And Deafness	Tremor, Hearing impairment, Spastic paraparesis	OMIM:312910
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity,...	ORPHA:99014
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno...	ORPHA:102
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Tremor, Inability to walk, Gait disturbance, Difficult...	ORPHA:101077
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Progressive Supranuclear Palsy-Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi...	ORPHA:240103
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre...	ORPHA:420492
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata...	ORPHA:282166
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Lipoyltransferase 1 Deficiency	Spastic tetraparesis, Abnormality of extrapyramidal motor function, Bradycardia, Dystonia, Pulmon...	OMIM:616299
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression...	OMIM:616795
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive neurologic ...	ORPHA:206448
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ...	ORPHA:254881
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:391417
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Optic disc pallor, Tachycardia, Poor motor coordination, Parkinsonism...	ORPHA:79264
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet...	OMIM:233910
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig...	OMIM:615157
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Abnormal autonomic ne...	OMIM:300894
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia...	ORPHA:1215
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast...	OMIM:617810
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Cardiomyopathy, Myoclonus, Dystonia	OMIM:619651
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Cardiomyopathy, Difficulty ...	ORPHA:401768
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Dysmetria, Depr...	OMIM:300623
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi...	OMIM:617013
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi...	OMIM:610185
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas...	ORPHA:53351
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dementia, Abnormal autonom...	ORPHA:329284
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal s...	OMIM:607483
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Gait ataxia, Depression, Bradyki...	OMIM:137440
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Sensorineural hearing impairment, Hypertension, Hyp...	ORPHA:1192
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir...	OMIM:261640
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Dementia, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls	OMIM:159950
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait	OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Sensorineural hea...	OMIM:302800
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Abnormal auto...	OMIM:168600
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Steppage gai...	OMIM:118300
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Oromandibular dystonia, Dysmetria, ...	ORPHA:101
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A...	OMIM:619738
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Babinski sign...	ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Limb fasciculations, Abnorma...	ORPHA:90117
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Depression, Hypertension, Respiratory paralysis	OMIM:121300
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Hypertension, Dementia, Shuffling...	ORPHA:75567
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Babinski sign, Optic atrophy, Limb...	OMIM:619259
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis	OMIM:619470
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa...	ORPHA:139485
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus, Interictal epileptiform activity	OMIM:615400
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Spasticity	OMIM:300983
Spontaneous Periodic Hypothermia	Tremor, Arrhythmia, Ataxia, Gait disturbance	ORPHA:29822
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Decreased nerve conduction velocity, ...	ORPHA:329478
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn...	ORPHA:240071
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal...	ORPHA:99745
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Shu...	OMIM:168601
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Spinocerebellar Ataxia Type 36	Ataxia, Hearing impairment, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand tremor, T...	ORPHA:276198
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Low-set ears	ORPHA:477673
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d...	ORPHA:289560
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearin...	OMIM:312080
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin...	OMIM:128100
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Optic atrophy, Clumsiness, ...	ORPHA:137898
Idiopathic Congenital Hypothyroidism	Lethargy, Bradycardia	ORPHA:95717
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxia, Dementia, Cogniti...	OMIM:208920
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Bradykinesia,...	ORPHA:306682
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait...	OMIM:311510
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol...	ORPHA:3095
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abn...	ORPHA:363400
Behr Syndrome	Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Gait disturbance, Progres...	OMIM:210000
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Sneddon Syndrome	Tremor, Chorea, Intracranial hemorrhage, Hypertension, Hemiparesis, Dementia, Mental deterioratio...	ORPHA:820
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Abnormal aut...	OMIM:616840
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma...	OMIM:614298
Monomelic Amyotrophy	Tremor, Fasciculations, Abnormality of peripheral nerve conduction	ORPHA:65684
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Dementia, Falls, Cognit...	ORPHA:683
Glossopharyngeal Neuralgia	Cranial nerve compression, Vocal cord paralysis, Jaw claudication, Depression, Abnormal glossopha...	ORPHA:221098
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr...	ORPHA:247234
Rhizomelic Chondrodysplasia Punctata, Type 5	Sinus tachycardia	OMIM:616716
D-Glyceric Aciduria	Optic nerve hypoplasia, Sensorineural hearing impairment, Spastic tetraplegia, Opisthotonus, Hyps...	OMIM:220120
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Progressive neurologic deterioration, Babinski sign, Focal dystonia, Spastic dys...	ORPHA:447757
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity	ORPHA:33445
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,...	ORPHA:36387
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Encephalitis Lethargica	Parkinsonism, Tremor, Bradycardia, Mental deterioration, Lethargy	ORPHA:83600
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function, Hypoten...	ORPHA:178509
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Cap Myopathy	Reduced systolic function, Sinus tachycardia	ORPHA:171881
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Acitretin/Etretinate Embryopathy	Cupped ear, Conotruncal defect, Microtia, Third degree atrioventricular block, Bradycardia, Bilat...	ORPHA:40366
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst...	OMIM:168605
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Hearing impairment, Cardiomegaly, Tremor, Sensorineural hearing impairment, Ab...	OMIM:105210
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme...	OMIM:183090
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia, Cognitive impairment, Mental deterioration	ORPHA:3124
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit...	ORPHA:289494
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Leber Optic Atrophy	Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Dystonia, Arrhythmia	OMIM:535000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal...	ORPHA:324410
Infantile Krabbe Disease	Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,...	ORPHA:206436
Hypermanganesemia With Dystonia 1	Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio...	OMIM:613280
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Familial Thyroid Dyshormonogenesis	Lethargy, Sensorineural hearing impairment, Bradycardia	ORPHA:95716
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog...	ORPHA:85447
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Tachycardia, Progressive neurologic deterioration	ORPHA:276608
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Mitochondrial Complex I Deficiency, Nuclear Type 37	Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hypertension	OMIM:619272
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia...	ORPHA:70594
Proximal Spinal Muscular Atrophy	Inability to walk, Facial diplegia, Tongue fasciculations, Bradycardia, Difficulty walking, Atria...	ORPHA:70
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy	OMIM:617397
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Hearing impairment	ORPHA:79234
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ventricular septal defect, Ata...	OMIM:614947
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypertension, Progressive hearing impairment, My...	ORPHA:97229
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia...	ORPHA:2828
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul...	OMIM:607694
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor ap...	ORPHA:529665
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity...	OMIM:619556
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, G...	OMIM:618321
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, EEG abnormality, Low-set ears, Spasticity	OMIM:618718
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Inability to walk, Chorea, Right bundle branch block, Reduced left ve...	ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Ment...	OMIM:619051
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia, Tongue fasciculations	OMIM:608800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Necrotizing Enterocolitis	Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy	ORPHA:391673
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, ...	OMIM:182410
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Dementia, Low frustra...	ORPHA:411602
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Myocardial infarction, Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait di...	ORPHA:457240
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn...	ORPHA:1942
Cerebrotendinous Xanthomatosis	Progressive psychomotor deterioration, Abnormal pyramidal sign, Abnormal motor evoked potentials,...	ORPHA:909
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Clonus, Tre...	OMIM:619424
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Congenital Myopathy 22A, Classic	Waddling gait, Frequent falls, Tricuspid regurgitation, Bradycardia	OMIM:620351
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Tetraplegia, Hypsarrhythmia	OMIM:610768
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady...	OMIM:618775
Sporadic Infantile Bilateral Striatal Necrosis	Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykine...	ORPHA:225147
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Refsum Disease, Classic	Ataxia, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Cardiomyopathy,...	OMIM:266500
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic dysarth...	ORPHA:447753
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Macrotia, Spastic tetraplegia, Cardiomegaly	OMIM:300886
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h...	OMIM:619092
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Neuroleptic Malignant Syndrome	Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho...	ORPHA:94093
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, ...	OMIM:616505
Ataxia-Telangiectasia	Ataxia, Telangiectasia of the skin, Tremor, Gait disturbance, Cognitive impairment, Spasticity, M...	ORPHA:100
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Lethargy	OMIM:600649
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,...	OMIM:619260
Serotonin Syndrome	Tachycardia, Confusion, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hypertonia, Myoclon...	ORPHA:43116
Intellectual Developmental Disorder, X-Linked 12	Tremor, Sensorineural hearing impairment, Depression, Hyperkinetic movements, Gait disturbance, S...	OMIM:300957
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Congestive heart fail...	ORPHA:48818
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ventricular septal defect, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Optic atro...	OMIM:615673
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hepatospleno...	ORPHA:845
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto...	ORPHA:765
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Dystonia, Mental deterioration, Progressive...	OMIM:304700
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Developmental And Epileptic Encephalopathy 4	Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor...	OMIM:612164
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Tremor, Sensorineural hearing impairment, Hemiparesis, Hypertonia...	OMIM:619737
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Hyperto...	OMIM:617710
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hearing impairment	ORPHA:87876
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tremor, I...	OMIM:218000
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Cockayne Syndrome Type 1	Hepatomegaly, Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic a...	ORPHA:90321
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairme...	ORPHA:812
Leukoencephalopathy With Ataxia	Optic neuropathy, Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,...	ORPHA:79254
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hyperte...	OMIM:614653
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia	OMIM:613327
Lujo Hemorrhagic Fever	Shock, Resting tremor, Confusion, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotensi...	ORPHA:319213
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Gait ataxia, Hypertonia, Lethargy, Ataxia, Facial palsy, Dilated cardiomyopathy, Depressi...	ORPHA:254892
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Alternating Hemiplegia Of Childhood	Ataxia, Progressive neurologic deterioration, Cardiac conduction abnormality, Tremor, Rigidity, C...	ORPHA:2131
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens...	OMIM:609136
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi...	OMIM:614381
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Isolated Thyroid-Stimulating Hormone Deficiency	Clumsiness, Depression, Bradycardia, Attention deficit hyperactivity disorder, Lethargy	ORPHA:90674
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo...	OMIM:607060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Depression, Hypertension, Myoc...	OMIM:184850
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Dysdiadochokinesis, Diffic...	OMIM:617675
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Cardiomegaly, Progre...	OMIM:268800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Cardiomegaly, Inability to walk, Optic atrophy, Lower limb hyp...	ORPHA:97297
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Hematochezia, Mental deterioration, Memory impairment	ORPHA:79095
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials	OMIM:617523
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil...	OMIM:601104
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Confu...	ORPHA:99827
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Cupped e...	OMIM:613870
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Retinal...	ORPHA:25
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal ...	OMIM:606002
Congenital Sialidosis Type 2	Abnormal EKG, Telangiectasia	ORPHA:93400
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Tremor, Decreased nerve conduction velocity, Dementia, Gait dis...	ORPHA:512
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Xeroderma Pigmentosum, Complementation Group F	Tremor, Dementia, Ataxia, Hearing impairment	OMIM:278760
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Emotional lability, Lethargy	OMIM:201100
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia, Hypotension	ORPHA:90051
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea,...	OMIM:615356
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ...	ORPHA:3240
Cockayne Syndrome A	Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Spl...	OMIM:216400
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Bradycardia, Dystonia	OMIM:617248
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Tachycardia, Lethargy, Hepatomegaly	OMIM:229700
Alexander Disease	Ataxia, Clonus, Sudden cardiac death, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetr...	ORPHA:58
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG...	ORPHA:98794
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ...	OMIM:609454
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G...	OMIM:617988
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Periodic paralysis	OMIM:613239
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Optic atrophy, Depressio...	ORPHA:314404
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Bradycardia	ORPHA:90673
Gm1 Gangliosidosis	Generalized dystonia, Ventricular septal defect, Ataxia, Dystonia, Tremor, Congestive heart failu...	ORPHA:354
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis	OMIM:619574
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Pulsatile tinnitus, Vocal cord paralysis, Palpitations, Hypertension associated with...	OMIM:605373
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap...	OMIM:618527
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Mercury Poisoning	Tachycardia, Confusion, Tremor, Hypertension, Hypotension, Dystonia	ORPHA:330021
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a...	ORPHA:646
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Rigidity, Parkinsonism	OMIM:614251
Coenzyme Q10 Deficiency, Primary, 1	Right hemiplegia, Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Loss of ambulation...	OMIM:607426
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment...	ORPHA:79330
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Wolfram Syndrome 1	Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy	OMIM:222300
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Inability to walk, Sensorineural hearing...	ORPHA:99956
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M...	OMIM:253200
Chronic Bilirubin Encephalopathy	Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials	ORPHA:529799
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona...	ORPHA:221
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Pulsatile tinnitus, Vocal cord paralysis, Palpitations, Conductive hearing impairmen...	OMIM:168000
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Progressive neurologic deterioration, Tremor, Lethargy	ORPHA:263455
Cockayne Syndrome B	Hepatomegaly, Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Spl...	OMIM:133540
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia, Sensorineural hearing impairment	ORPHA:91355
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokines...	ORPHA:502423
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Facial palsy, ...	ORPHA:31826
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,...	OMIM:170390
Congenital Heart Defects, Multiple Types, 9	Pulmonic stenosis, Left axis deviation	OMIM:620294
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Confusion, Hypovolemia, Capillary leak, Subconjunctival hemorrh...	ORPHA:99826
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ...	ORPHA:466768
Japanese Encephalitis	Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti...	ORPHA:79139
Hyperlysinemia	Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spa...	ORPHA:2203
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Li...	ORPHA:572798
Joubert Syndrome	Ataxia, Aganglionic megacolon, Situs inversus totalis, Tremor, Gait disturbance, Low-set ears, Oc...	ORPHA:475
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Tremor, Hypertension, Arrhythmia, Low-set ears, Hypertrophic cardiomyopathy, Intention tr...	OMIM:614052
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Intestinal bleedi...	OMIM:612199
Triosephosphate Isomerase Deficiency	Optic disc pallor, Tremor, Splenomegaly, Congestive heart failure, Unsteady gait, Dystonia, Spast...	OMIM:615512
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Lethargy, Sensorineural hearing impairment, Bradycardia	ORPHA:226307
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Ataxia, Optic neuropathy, Tremor, Dilated cardiomyopathy, Optic atrophy, Concentric...	OMIM:610505
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Bradycardia	OMIM:218700
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial...	ORPHA:79102
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased nerve con...	OMIM:214500
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Trisomy 10P	Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ...	ORPHA:171929
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Depression, Abnormal cranial ner...	ORPHA:297
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
African Trypanosomiasis	Tremor, Choreoathetosis, Delirium, Abnormal EKG, Hepatomegaly, Abnormal central motor function, P...	ORPHA:3385
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, D...	OMIM:164310
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Ataxia-Telangiectasia	Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, ...	OMIM:208900
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, EEG with generalized slow activity, Ataxia, Akinesia, Tremor...	ORPHA:86309
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Raynaud phenomenon, Tremor, Hemiplegia/...	ORPHA:51
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, E...	ORPHA:1934
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Mend Syndrome	Abnormal auditory evoked potentials, Abnormal heart morphology, Low-set ears, Aortic valve stenos...	ORPHA:401973
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia	ORPHA:1578
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Hamamy Syndrome	Mitral regurgitation, Prolonged QRS complex	OMIM:611174
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Unsteady gait, Slurred speech, Endocarditis...	ORPHA:707
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Scimitar Syndrome	Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension	ORPHA:185
Benign Schwannoma	Allodynia, Abnormality of peripheral nervous system electrophysiology	ORPHA:252164
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia	OMIM:603041
Developmental And Epileptic Encephalopathy 24	Attention deficit hyperactivity disorder	OMIM:615871
Generalized Epilepsy With Febrile Seizures Plus, Type 10		OMIM:618482

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 Hcn1

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 Hcn1.

No publications found that use IMPC mice or data for Hcn1.

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MGI Allele	Allele Type	Produced
Hcn1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hcn1^em1(IMPC)H	Exon Deletion	Mice
Hcn1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hcn1^em2(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hcn1 MGI:1096392

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Hcn1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data