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 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia, Myoclonic seizure |
OMIM:619521 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Seizure, Syncope, Bradycardia |
OMIM:611938 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Angelman syndrome (Type 2) |
|
Seizure, Truncal ataxia |
DECIPHER:54 |
Angelman syndrome (Type 1) |
|
Seizure, Truncal ataxia |
DECIPHER:4 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia |
OMIM:213000 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Seizure, Spasticity, Ataxia |
OMIM:604004 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Seizure, Spasticity, Ataxia |
OMIM:619228 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking |
OMIM:616330 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Megalencephaly With Dysmyelination |
|
Seizure, Spasticity, Ataxia |
OMIM:249240 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Seizure, Ataxia, Spastic tetraparesis |
OMIM:619061 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Isolated Cerebellar Agenesis |
|
Seizure, Hypertonia, Ataxia |
ORPHA:1398 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Seizure, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Continuous Spikes And Waves During Sleep |
|
Dystonia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizu... |
ORPHA:725 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Dystonia 23 |
|
Torticollis, Arrhythmia, Myoclonus, Head tremor |
OMIM:614860 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:615006 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:617389 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... |
OMIM:619970 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... |
OMIM:605021 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Maple Syrup Urine Disease |
|
Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:511 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... |
OMIM:615369 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Frequent falls, Myoclonus |
OMIM:619647 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Frequent falls, Difficulty walking |
OMIM:616227 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Seizure, Third degree atrioventricular block, Bradycardia, Myoclonus |
OMIM:619814 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure |
OMIM:611092 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... |
ORPHA:98811 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Inability to walk, Spastic tetraplegia, Myoclonic seizure, Seizur... |
OMIM:617929 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Seizure, Bradycardia, Hypertrophic c... |
OMIM:617222 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... |
OMIM:162350 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia |
OMIM:613722 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia |
OMIM:125370 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Babinski sign, Seizu... |
OMIM:619742 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Centralopathic Epilepsy |
|
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... |
OMIM:117100 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Seizure, Syncope, Torsade de pointes, Abnormal T-wave, P... |
ORPHA:101016 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... |
OMIM:616139 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... |
OMIM:614820 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Somatic sensory dysfunction, Unsteady gait, Impaired proprioception, Abnormal pyramidal sign, Lim... |
ORPHA:95434 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... |
OMIM:266100 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... |
OMIM:617391 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... |
OMIM:310300 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure, Bradycardia |
OMIM:609924 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... |
ORPHA:163721 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... |
ORPHA:98820 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... |
ORPHA:37553 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... |
ORPHA:363549 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Paroxysmal Kinesigenic Dyskinesia |
|
Writer's cramp, Involuntary movements, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure |
ORPHA:98809 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor |
ORPHA:86814 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w... |
ORPHA:2382 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor |
OMIM:618876 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Myoclonus |
OMIM:619651 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga... |
OMIM:618090 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) se... |
OMIM:619157 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic seizure, EE... |
OMIM:617106 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Limb hypertonia |
ORPHA:324588 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:617904 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... |
OMIM:617665 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:254800 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Bilateral tonic-clonic seizure, Cardiac arrest, Focal motor seizure, Spasticity, Bradycardia, Hyp... |
OMIM:618235 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardi... |
ORPHA:542306 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon... |
OMIM:616409 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form peer relationships, Seizu... |
OMIM:608636 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dystonia |
OMIM:618924 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... |
ORPHA:31709 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Seizure, Limb ataxia, Gait ataxia |
ORPHA:404499 |
Glycogen Storage Disease 0, Muscle |
|
Cardiomyopathy, Bilateral tonic-clonic seizure |
OMIM:611556 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Jervell And Lange-Nielsen Syndrome |
|
Seizure, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... |
OMIM:617836 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Epileptic spasm, Seizure |
OMIM:619561 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... |
OMIM:617113 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... |
OMIM:619605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... |
OMIM:614498 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia |
OMIM:616341 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Loss of ambulation, Seizure, Ataxia, Myoclonus |
OMIM:600143 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... |
ORPHA:139431 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... |
ORPHA:284324 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Seizure, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk, Focal-onset seizure... |
ORPHA:330050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Choreoathetosis, Myoclonus, Ac... |
OMIM:616230 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Diaminopentanuria |
|
Seizure, Spasticity, Ataxia |
OMIM:222350 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Hypoplastic hippocampus, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, ... |
OMIM:619317 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Seizure, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:104290 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... |
ORPHA:98818 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... |
OMIM:301020 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... |
OMIM:614322 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... |
ORPHA:86909 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity |
OMIM:545000 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:607876 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic corpus callosum, Unsteady g... |
OMIM:620317 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, H... |
ORPHA:208447 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block |
ORPHA:85447 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... |
ORPHA:2590 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus |
OMIM:159900 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Concentric hypertrophic cardiomyopathy, Seizure, Ab... |
OMIM:204200 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Third degree atrioventricular block |
ORPHA:480 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Seizure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... |
OMIM:609056 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Generalized-onset seizure, Bilateral tonic-clonic ... |
OMIM:620066 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Seizure, Bradycardia, Pul... |
OMIM:601005 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Focal impaired awareness seiz... |
ORPHA:382 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age... |
OMIM:619302 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Infantile spasms |
OMIM:278780 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... |
OMIM:617350 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Hereditary Continuous Muscle Fiber Activity |
|
Seizure, Slurred speech, Ataxia, Spastic gait |
ORPHA:972 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, My... |
ORPHA:228346 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Hypoplastic hippocampus, Pneumonia, Partial agenesis of the corpus callosum, Seizure, Conductive ... |
ORPHA:85179 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... |
ORPHA:71517 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... |
OMIM:615528 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure |
OMIM:619639 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Focal motor status epilepticus, Focal-onset seizure, Chorea, Poor coordination, Seizure, ... |
OMIM:619150 |
Benign Familial Neonatal Epilepsy |
|
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... |
ORPHA:1949 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Early Myoclonic Encephalopathy |
|
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... |
ORPHA:1935 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Abnormal peripheral nervous system synaptic transmission, Fatigable weakness, Diff... |
ORPHA:353327 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Intracranial hemorrhage... |
OMIM:614483 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... |
ORPHA:140927 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Congestive heart failure, Abnorma... |
OMIM:540000 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul... |
OMIM:256731 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ... |
ORPHA:66529 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Ataxia, Myoclonus |
OMIM:204500 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, A... |
OMIM:616645 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... |
OMIM:617711 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... |
OMIM:619028 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... |
OMIM:619913 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia |
OMIM:617862 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... |
ORPHA:71277 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... |
OMIM:613970 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramida... |
ORPHA:352596 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Developmental And Epileptic Encephalopathy 16 |
|
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... |
OMIM:615338 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Hypertonia, Syncope, Myoclonus |
OMIM:614618 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Bradycardia |
OMIM:620265 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Epistaxis, Spastic paraplegia, Intracranial hemor... |
ORPHA:369929 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus |
OMIM:618285 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Seizure, Hypertonia, Bradycardia |
OMIM:614654 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo... |
ORPHA:466677 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... |
ORPHA:561854 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Truncal ataxia, Intention tremor |
OMIM:614407 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619301 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... |
OMIM:617976 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus |
OMIM:300699 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxia, Clumsiness, Nonpr... |
ORPHA:453521 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hearing impairment |
OMIM:312910 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, EEG abnormality, Convulsive status epilepticus, Dystonia |
OMIM:618760 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Hypertens... |
OMIM:615474 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity |
OMIM:617065 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Seizure, Ataxia |
OMIM:618951 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dystonia, Loss... |
OMIM:618088 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Focal clonic seizure,... |
OMIM:220120 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Seizure, Pseudobulbar paralysis, Focal impaired awareness seizure... |
ORPHA:208441 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... |
OMIM:614307 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Limb dysmetria |
ORPHA:324262 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor |
OMIM:620221 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... |
ORPHA:225147 |
Congenital Myopathy 24 |
|
Cardiomyopathy, First degree atrioventricular block |
OMIM:617336 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Spasticity |
OMIM:616277 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia |
ORPHA:228169 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Hypsarrhythm... |
OMIM:612164 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... |
ORPHA:157941 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Seizure, Tip-toe gait, Gait di... |
ORPHA:216866 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure |
OMIM:618501 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... |
OMIM:614831 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:618237 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
Lissencephaly 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Agenesis of corpus callosum... |
OMIM:611603 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Spasticity, Dystonia, Progressive sensorine... |
OMIM:304700 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb... |
OMIM:607565 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Multifocal seizures, Hypoplastic hippocampus, Involuntary movements, Upper limb postural tremor, ... |
ORPHA:477774 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia |
ORPHA:139485 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:618856 |
Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus, Hypotension |
ORPHA:99825 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Congestive heart failure, Focal-onset seizure, ... |
ORPHA:91131 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:612126 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Dystonia, Ataxia, Clonic seizure, Gait ataxia, Seizure, Gait disturbance, ... |
OMIM:614458 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Episodic Ataxia Type 3 |
|
Episodic ataxia, Seizure, Hemiplegia |
ORPHA:79135 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment |
OMIM:165300 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Sensorineural heari... |
ORPHA:464282 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Clumsines... |
OMIM:616127 |
Pontocerebellar Hypoplasia Type 4 |
|
Seizure, Hypertonia, Myoclonus |
ORPHA:166063 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilepticus, Bradycardia, Pulmonary arteri... |
OMIM:619272 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cln5 Disease |
|
Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Inability to walk, Fo... |
ORPHA:228360 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic parapare... |
ORPHA:391417 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hemimegalencephaly |
|
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic... |
ORPHA:99802 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Seizure, Spasticity, Ataxia |
OMIM:300983 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... |
OMIM:618917 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... |
ORPHA:521406 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, Seizure |
OMIM:226750 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... |
ORPHA:163985 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... |
OMIM:617290 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Seizure, Hypertrophic cardiomyopathy, Bradycardia, Spasticity |
OMIM:614702 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... |
ORPHA:79263 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Cardiac arrest, Myoclonus |
ORPHA:168593 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610090 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Seizure, Athetosis, Myoclonus, Hypertrophic cardiomyopathy |
OMIM:618241 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ... |
OMIM:607136 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Congenital Disorder Of Glycosylation, Type In |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Tetanus |
|
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of... |
ORPHA:3299 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Chorea, Myoclonic seizure, Seizure, Hyperkinetic movements, Focal impaired aware... |
OMIM:614254 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, EEG abnormality, Dystonia, A... |
ORPHA:457205 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:618412 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Glutathione Synthetase Deficiency |
|
Seizure, Ataxia, Spastic tetraparesis, Intention tremor |
OMIM:266130 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di... |
ORPHA:209370 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady gait, Babinski sign, F... |
ORPHA:98761 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Limb dystonia |
OMIM:620270 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Spastic paraplegia, Babinski sign, Choreoathetosis, Febrile seizure (w... |
OMIM:619735 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... |
OMIM:617493 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Spastic paraplegia, Ataxia |
OMIM:620379 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Phosphoserine Aminotransferase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610992 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch... |
OMIM:614487 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Unsteady gait, Sensory... |
ORPHA:2932 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Abnormality of extrapyramidal motor function, Bradycardia, Spast... |
OMIM:616299 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur... |
OMIM:159950 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasticity, Telangie... |
ORPHA:79279 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... |
ORPHA:90117 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure... |
OMIM:271980 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus, Cerebral hemorrhage |
ORPHA:324708 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Dilated cardiomyopathy, Babinski sign, Spasticity, Seizure, Myoclonus, Truncal ataxia, Hy... |
OMIM:252011 |
Peho-Like Syndrome |
|
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Hypsarrhythmia |
OMIM:617507 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Kearns-Sayre Syndrome |
|
Ataxia, Cardiomyopathy, Seizure, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Cardiomyopathy, Seizure, Bradycardia, Arrhythmia |
OMIM:609286 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Hypertension, Seiz... |
ORPHA:363400 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Impaired distal proprioception, Unsteady gait, Impaired distal vibration sensation, Dysmetria, Ga... |
OMIM:617633 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... |
ORPHA:542310 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr... |
ORPHA:289266 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... |
ORPHA:363654 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Seizure, Bradycardia |
OMIM:610015 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Ba... |
OMIM:618170 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... |
OMIM:616795 |
Infantile Cerebellar-Retinal Degeneration |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sensorineural hearing impairment, At... |
OMIM:614559 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Abnormal social behavior, Low-set ears |
ORPHA:436151 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity |
ORPHA:33445 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance |
OMIM:603472 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Mitral ... |
ORPHA:309155 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-... |
ORPHA:485350 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo... |
OMIM:604802 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Multifocal seizures, Bilateral tonic-clonic seizure, Clonus,... |
ORPHA:480864 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... |
ORPHA:363558 |
Stiff-Person Syndrome |
|
Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Hypertension, Myoclonic spasms... |
OMIM:184850 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:256730 |
Atypical Rett Syndrome |
|
Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Impaired pain s... |
ORPHA:3095 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... |
ORPHA:352403 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Seizure, Ataxia |
ORPHA:3233 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Supraventricular arrhythmia, Limb tremor, Myoclonus, Head tremor |
ORPHA:420492 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthria, Dysdia... |
ORPHA:313772 |
Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptiform disch... |
OMIM:617166 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh... |
OMIM:617105 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Developmental And Epileptic Encephalopathy 1 |
|
Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Abnormal pyramidal si... |
OMIM:308350 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Seizure, Myoclonus, Dysmetria |
OMIM:618251 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... |
ORPHA:248111 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto... |
OMIM:261640 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus |
OMIM:619303 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... |
OMIM:301058 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
EEG abnormality, Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure |
OMIM:604317 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Seizure |
OMIM:619470 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Decerebrate rigidity, ... |
ORPHA:314911 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Cerebellar gliosis, ... |
ORPHA:79243 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Thyrocerebrorenal Syndrome |
|
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta ... |
ORPHA:98784 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Gait... |
ORPHA:488635 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor |
OMIM:203450 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Eczema, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia... |
OMIM:272300 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... |
ORPHA:529665 |
Glycine Encephalopathy 1 |
|
Seizure, Myoclonus |
OMIM:605899 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conduction, Spastic tetraparesis,... |
ORPHA:3208 |
Variegate Porphyria |
|
Tachycardia, Paralysis |
OMIM:176200 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Multifocal seizures, Ataxia, Involuntary movements, Choreoathetosis, Status epilepticus, Dystonia... |
OMIM:615905 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Astrocytosis, Inappropriate behavior, Gait disturbance, Fascicula... |
ORPHA:275864 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:615476 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, P... |
ORPHA:79264 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Hyperekplexia 4 |
|
Seizure, Hypertonia, Myoclonus |
OMIM:618011 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Seizure, Myoclonus, Neonatal death... |
OMIM:620167 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Gliosi... |
ORPHA:457240 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Limb ataxia, Dysmetria, Hand tremor, Tongue fasciculations, Difficulty wal... |
ORPHA:276198 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Vocal cord paralysi... |
ORPHA:98863 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Seizure, Arrhythmia, Ataxia |
OMIM:616949 |
Riboflavin Transporter Deficiency |
|
Ataxia, Tremor, Hypertension, Seizure, Myoclonus |
ORPHA:97229 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic ... |
OMIM:600721 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure |
ORPHA:3124 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... |
ORPHA:13 |
Band Heterotopia |
|
Hypoplastic hippocampus, Seizure, Lateral ventricle dilatation, Spasticity, Agenesis of corpus ca... |
OMIM:600348 |
Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, Dysmetria, Seizure, Gait disturbance, Positive Romberg sign... |
ORPHA:94125 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Vocal cord paralysis, Seizure, Syncope, Bradycardia |
ORPHA:221098 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Epiphora, Malar rash,... |
ORPHA:330058 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, ... |
OMIM:617435 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Seizure, Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple... |
ORPHA:206443 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Periodic paralysis, Syncope, Palpitation... |
OMIM:170390 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Second degree atrioventricular block, Seizure, Pulmonary arterial hypertension |
OMIM:617021 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox... |
ORPHA:168491 |
Glutathionuria |
|
Eczema, Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Pontocerebellar Hypoplasia, Type 2E |
|
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... |
OMIM:615851 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Tremor, Inability to walk, Inappropriate laughter, Macrotia |
OMIM:616269 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Upper limb postural tremor, Distal sensory impairment, Gait ataxia |
OMIM:180800 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... |
OMIM:620028 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Steppage gait, Hypertonia, Spasticity |
OMIM:609260 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Hypoplastic hippocampus, Reduced amygdala volume, Tonic seizure, Focal-onset seizure, Partial age... |
OMIM:619517 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity |
OMIM:618225 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia, Loss of ambulation,... |
OMIM:607694 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
Thyrocerebroretinal Syndrome |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... |
OMIM:615716 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Seizure, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... |
OMIM:208920 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... |
OMIM:615157 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Spontaneous Periodic Hypothermia |
|
Tremor, Seizure, Ataxia, Gait disturbance |
ORPHA:29822 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Secondary Syringomyelia |
|
Somatic sensory dysfunction, Paraplegia, Sensory ataxia, Fatigable weakness, Progressive cerebell... |
ORPHA:99857 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Myoclonus, Intractable, Neonatal |
|
Clonic seizure, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Lower limb spasticity, Abnormal pyramidal sign, Cardiomyopathy, Progressive gait at... |
ORPHA:1177 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Seizure, Mitral regurgitation, Myoclonus... |
OMIM:619167 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality of extrapy... |
OMIM:607822 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Distal sensory impairment, Hand tr... |
OMIM:302800 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Seizure, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of e... |
ORPHA:289494 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Babinski sign, Ankle clonus, Seizure, Bradycardia, ... |
ORPHA:565624 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... |
OMIM:607483 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Seizure, Hypertonia, Myoclonus, Hypotension |
ORPHA:43116 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Blepharonasofacial Malformation Syndrome |
|
External ear malformation, Lacrimation abnormality, Torsion dystonia, Hearing impairment |
ORPHA:1252 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Opisthotonus... |
OMIM:271900 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:603034 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Seizure, Hearing impairment |
ORPHA:79234 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Dysgenesis of the hippocampus, Clumsiness, Poor fine motor coordination, Agenesis... |
ORPHA:238722 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilated cardiomyopa... |
OMIM:620300 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia... |
OMIM:619877 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Posteriorly rotated ears, Ataxia, Spastic te... |
OMIM:618598 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi... |
ORPHA:276556 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis |
ORPHA:329284 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity |
OMIM:618201 |
Schindler Disease, Type I |
|
Seizure, Spasticity, Myoclonus |
OMIM:609241 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Myoclonic spas... |
ORPHA:36913 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
Chondroectodermal Dysplasia With Night Blindness |
|
Epiphora, Difficulty walking, Gait disturbance, Otitis media |
ORPHA:319195 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... |
OMIM:311510 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Abnormal hippocampus morphology, Seizure, Myoclonus, Dystonia |
ORPHA:163921 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... |
ORPHA:280219 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... |
OMIM:605711 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Seiz... |
OMIM:601338 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Acquired Methemoglobinemia |
|
Tachycardia, Seizure, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Sneddon Syndrome |
|
Tremor, Seizure, Chorea, Hemiparesis |
ORPHA:820 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... |
ORPHA:544254 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Epiphora |
OMIM:148200 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... |
ORPHA:251347 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
Congenital Disorder Of Glycosylation, Type Im |
|
Seizure, Dilated cardiomyopathy, Bradycardia, Tetraplegia |
OMIM:610768 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention t... |
OMIM:618356 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Bundle branch block, Poor fine motor coordination, First degree atrioventricular ... |
ORPHA:589821 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G... |
OMIM:616640 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... |
ORPHA:401866 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Pseudo-Torch Syndrome 2 |
|
Seizure, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic... |
OMIM:619580 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia |
OMIM:250620 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc... |
ORPHA:411986 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Seizure, Tachycardia |
ORPHA:276608 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,... |
OMIM:183086 |
Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... |
OMIM:619854 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Dilated cardiomyopathy, Spasticity, Seizure, Abnormality of extrapyramidal motor function... |
OMIM:614299 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Encephalitis Lethargica |
|
Tremor, Seizure, Parkinsonism, Bradycardia |
ORPHA:83600 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Heart Block, Congenital |
|
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... |
OMIM:234700 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi... |
ORPHA:276575 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Seizure, Hypertrophic cardiomyopathy, Myoclonus |
OMIM:614462 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Respiratory paralysis |
OMIM:121300 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... |
OMIM:619983 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epilepti... |
OMIM:619827 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Alexander Disease Type I |
|
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor |
ORPHA:363717 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi... |
ORPHA:442835 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Reduction of ... |
OMIM:312080 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Hypoglycemic seizures, Syncope, Status epilepticus, Palpitations, Hypertrophic cardi... |
ORPHA:276580 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Hyperkinetic movements |
ORPHA:397933 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... |
OMIM:617933 |
Lissencephaly Due To Tuba1A Mutation |
|
Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Infantile spasms, Dysgenesis of the hipp... |
ORPHA:171680 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Seizure, Low-set ears, Spasticity, Paroxysmal bursts of laughter |
OMIM:618718 |
Narp Syndrome |
|
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms |
ORPHA:644 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Bilateral tonic-clonic seizure |
OMIM:618120 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia |
OMIM:619556 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert... |
ORPHA:70594 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Febrile seizure (within the age range of 3 months to 6 years), Abnormal electro... |
OMIM:609438 |
Neuraminidase Deficiency |
|
Slurred speech, Dysmetria, Cardiomyopathy, Seizure, Myoclonus |
OMIM:256550 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis |
OMIM:300894 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity |
OMIM:618972 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Unsteady gait, Hemiparesis, Seizure, Agenesis of corpus callosum |
OMIM:617542 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, Hy... |
OMIM:619847 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Hydrocephalus, Generalized non-motor (absence) seizure, Clumsines... |
OMIM:300558 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... |
OMIM:617281 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Tremor, Uveitis, Seizure, Dec... |
ORPHA:90321 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... |
OMIM:616505 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Seizure, Shuffling... |
ORPHA:3077 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94090 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Seizure, Arrhythmia |
ORPHA:2151 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia |
OMIM:312170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Ataxia, Tremor, Inability to walk, Chorea, Truncal ataxia, Athetos... |
OMIM:615356 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... |
ORPHA:1942 |
Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Tremor, Rigidity, Dystonia, Loss of ambulation |
OMIM:615010 |
Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... |
ORPHA:98795 |
Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures |
OMIM:149400 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyopathy, Seizure, Hype... |
ORPHA:445038 |
Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Ventricular tachycardia, ... |
OMIM:300855 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Dysgenesis of the hippoc... |
OMIM:618325 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Decreased miniature endplate potentials |
OMIM:608930 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus, Myoclonic seizure |
OMIM:618240 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Infantile spasms, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, Gait ... |
OMIM:618321 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure... |
ORPHA:399 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Arrhythmia, Bilateral tonic-clonic... |
ORPHA:42 |
Unilateral Polymicrogyria |
|
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... |
ORPHA:268943 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L... |
ORPHA:845 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy, Seizure, Stillbirth, Myoclonus, Tongue fasciculations, Neonatal death |
OMIM:614922 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Rigidity, Abnormal pyramidal sign, Hemiparesis, P... |
ORPHA:199354 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Tetraplegia, Impaired myocardial... |
ORPHA:79102 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... |
OMIM:612949 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... |
OMIM:620292 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
Gaucher Disease, Type Iii |
|
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... |
OMIM:617854 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ataxia, Dysmetria, Telangiectasia, Seizure, Myoclonus, Spasticity |
ORPHA:93400 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:619422 |
Epithelial Recurrent Erosion Dystrophy |
|
Epiphora |
OMIM:122400 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Generalized-onset seizure, Tremor, Hemiparesis, Seizure, Hypertonia |
OMIM:619737 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Cardiomyopathy, Abnormal pyramidal sign, Abnormal atrioventricular conduction, Limb dysmetria |
ORPHA:329336 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... |
OMIM:608643 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... |
ORPHA:488613 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Abnormal heart rate variability, Seizure, ... |
ORPHA:206436 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Clonus, Poor coordination, Ventricular tachycardia, Spastic tetraplegia, ... |
OMIM:616878 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... |
OMIM:619574 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Seizure, Myoclonus, Apraxia, Spasticity |
OMIM:221770 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar... |
ORPHA:90068 |
Keratosis Pilaris Atrophicans |
|
Epiphora |
OMIM:604093 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Spastic tetraparesis, Seizure, Hypertonia, Myoclonus |
ORPHA:284417 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... |
ORPHA:765 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea,... |
ORPHA:2131 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Spasticity, Gait ataxia, Clumsiness, Seizure, Progressive gait ataxia, Tip-toe gai... |
ORPHA:309256 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Seizure, Myoclonus |
OMIM:300673 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Spasticity, Protruding ear, Seizure, L... |
ORPHA:481152 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Ataxia |
OMIM:300619 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... |
ORPHA:329308 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Posteriorly rotated ears, Infantile spasms, Dysgenesis of the hippocampus, Noncommunicati... |
OMIM:619320 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Seizure, Generalized-onset seizure, Limb hypertonia |
OMIM:617162 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Congestive heart failure, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic mo... |
OMIM:616271 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Seizure |
ORPHA:261295 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Sensorineural hearing impairment, Seizure, Hyperkinetic movements, Gait disturbance, Glio... |
OMIM:300957 |
Corneal Dystrophy, Meesmann, 2 |
|
Epiphora |
OMIM:618767 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Pyridoxal Phosphate-Responsive Seizures |
|
Seizure, Hypertonia, Status epilepticus, Myoclonus |
ORPHA:79096 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Opisthotonus, Status epilepti... |
OMIM:616672 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus |
OMIM:600795 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Corneal Dystrophy, Meesmann, 1 |
|
Epiphora |
OMIM:122100 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Lacrimation abnormality |
ORPHA:1484 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Dysgenesis of the hippocampus, Inability to walk, Focal-onset seizur... |
ORPHA:300570 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... |
OMIM:618056 |
Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Prolonged PR interval |
OMIM:108900 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, EEG with bu... |
ORPHA:1934 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Seizure, Hyperton... |
OMIM:617710 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertonia, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Lacrimation abnormality |
ORPHA:1562 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysgenesis of the hippocampus, Focal-onset seizure, Chore... |
OMIM:619435 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Bilateral tonic-clonic s... |
OMIM:201475 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Right hemiplegia, Hypertrophic cardiomyop... |
OMIM:607426 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
D-Glyceric Aciduria |
|
Seizure, Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... |
OMIM:616973 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epilepticus, Abnorma... |
OMIM:615673 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Bilateral tonic-clonic seizure, Myocarditis, Subconjunctival hemorrhage, S... |
ORPHA:319213 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Periodic paralysis |
OMIM:188580 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... |
ORPHA:31826 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Seizure, Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Limbal Stem Cell Deficiency |
|
Blepharospasm, Keratitis, Lacrimation abnormality, Epiphora |
ORPHA:171673 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Seizure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Frequent falls, Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Babinski sign, Spasticity, Clumsiness, Seizure, Progressive gait ataxia, Cholecystitis, Bilateral... |
ORPHA:309263 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil... |
ORPHA:544503 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Status epilepticus |
OMIM:613870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Myoclonus |
OMIM:619060 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Seizure, Progressive spastic quadr... |
ORPHA:309246 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Seizure, Hypertonia... |
OMIM:617864 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance, Photosensitive myoclonic ... |
ORPHA:1192 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Hypoglycemic seizures |
ORPHA:324575 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... |
OMIM:193003 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Prolonged miniature endplate currents, Abnormal synaptic transmission at the neuro... |
ORPHA:98915 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Neonatal death, Generalize... |
OMIM:615501 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus |
ORPHA:98768 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, My... |
OMIM:268800 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Lacrimation abnormality, Abnormalit... |
ORPHA:949 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Hypsar... |
ORPHA:457351 |
Waardenburg Syndrome Type 1 |
|
Lacrimation abnormality, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, ... |
ORPHA:894 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypoplastic hippocampus, Eczema, Recurrent pneumonia, Seizure, Septic arthritis, Hearing impairment |
OMIM:617780 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Seizure, Hearing impairment |
OMIM:620114 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor |
ORPHA:363722 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Lacrimation abnormality |
ORPHA:1135 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Seizure, Hypertonia, Bradycardia, Neonatal death |
OMIM:617248 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Lacrimation abnormality |
ORPHA:1882 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
Subependymal Nodular Heterotopia |
|
Focal-onset seizure, Seizure, Limb myoclonus, Focal aware seizure |
ORPHA:101030 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Sialidosis Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:87876 |
Microcephaly, Amish Type |
|
Myoclonus, Limb hypertonia |
OMIM:607196 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... |
ORPHA:683 |
Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplastic hippocampus, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Status epi... |
OMIM:618606 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Seizure, Sinus tachycardia, Convulsive status epilepticus |
OMIM:616716 |
Sepsis In Premature Infants |
|
Seizure, Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Vernal Keratoconjunctivitis |
|
Punctate keratitis, Lacrimation abnormality |
ORPHA:70476 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Intracranial hemorrhage, Pseudobulbar p... |
ORPHA:449285 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... |
ORPHA:98913 |
Paroxysmal Hemicrania |
|
Focal sensory seizure with olfactory features, Rhinitis, Epiphora |
ORPHA:157835 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Sensorineural hearing impairment, Spast... |
OMIM:609136 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity |
OMIM:617664 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Impaired proprioception, Abnormal ... |
OMIM:606002 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Sudden cardiac death, Congestive heart failure, Dilated cardiomyo... |
ORPHA:73224 |
Biotinidase Deficiency |
|
Skin rash, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Sensorineural he... |
ORPHA:79241 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Seizure, Myoclonus |
OMIM:616158 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Sneddon Syndrome |
|
Tremor, Seizure, Hemiplegia, Impaired distal tactile sensation |
OMIM:182410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus,... |
OMIM:619055 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, Abnormal p... |
ORPHA:3452 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Infantile spasms, Inability to walk, Chorea, Oculomotor apraxia, Generalized non-motor (absence) ... |
ORPHA:404454 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Spasticity, Clumsiness, Seizure, Progressive gait ataxia, Progressive spas... |
ORPHA:309271 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Infantile spasms, Abnormal hippocampus morphology, Myoclonic seizure, Spas... |
ORPHA:572013 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... |
OMIM:616881 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Lacrimation abnormality, Dilatated internal auditory canal, Hypoplasia ... |
OMIM:113650 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Seizure, Abnormal social behavior, Posteriorly rotated ears, Low-set ears |
ORPHA:444002 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Lacrimation abnormality, Allodynia |
ORPHA:137596 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Low-set ears, Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor |
OMIM:618381 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Periodic paralysis |
OMIM:613239 |
Mercury Poisoning |
|
Tachycardia, Tremor, Hypertension, Seizure, Hypotension |
ORPHA:330021 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Tongue... |
OMIM:614969 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Seizure, Gait disturbance, Spasticity |
ORPHA:100 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus... |
ORPHA:395 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal... |
OMIM:614947 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... |
ORPHA:268940 |
Focal Facial Dermal Dysplasia Type Iii |
|
Lacrimation abnormality |
ORPHA:1807 |
Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Stat... |
OMIM:610042 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication |
OMIM:259900 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ... |
OMIM:105210 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M... |
OMIM:272750 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Babinski sign, Sinus bradycardia, Ankle clonus, Spasticity |
OMIM:618397 |
Melas |
|
Wolff-Parkinson-White syndrome, Abnormal central motor function, Bilateral tonic-clonic seizure, ... |
ORPHA:550 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Spasticity |
ORPHA:364028 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma... |
OMIM:614298 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Tachycardia, Hypotension |
OMIM:145600 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Overfolded helix, Bilateral tonic-clonic seizure, Impaired social interactions |
OMIM:616083 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia |
ORPHA:356 |
Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Dystonia, Parkinsonism, Fatigable w... |
ORPHA:1320 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Seizure, Dilated cardiomyopathy, Myoclonus, Gait ataxia |
ORPHA:70595 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia |
ORPHA:28378 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk... |
OMIM:617193 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Atrioventricular block, Seizure, Hypertonia,... |
ORPHA:581 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Hypertension, ... |
ORPHA:94093 |
Peho Syndrome |
|
Seizure, Myoclonus |
OMIM:260565 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... |
ORPHA:93399 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Inability ... |
OMIM:618143 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Seizure, Tachycardia |
OMIM:229700 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Ataxia, Myoclonus |
OMIM:256700 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Recurrent pneumonia, Tetraplegia, Spasticity, Fasciculati... |
ORPHA:496641 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor (absence) seizure, M... |
OMIM:615398 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Esophagitis |
ORPHA:71272 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Slurred speech, Seizure, Myoclonus |
ORPHA:812 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Infantile spasms |
OMIM:618374 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Cardiac conduction abnormality, Infantile spasms, Chorea,... |
ORPHA:255210 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Seizure, Epileptic spasm, Myoclonus |
OMIM:617669 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Dystonia |
OMIM:617050 |
Mepan Syndrome |
|
Chorea, Ataxia, Myoclonus, Spasticity |
ORPHA:508093 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Cardiomyopathy, Seizure, Hyperkinetic movements, Spasticity |
OMIM:620089 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Abnormal hippocampus morphology, Protruding ear, Seizure, Abnormal helix morphology, Spasticity, ... |
ORPHA:401777 |
Porphyria, Acute Intermittent |
|
Tachycardia, Paralysis, Hypertension, Seizure, Respiratory paralysis |
OMIM:176000 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of ton... |
ORPHA:2388 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hearing impairment |
OMIM:616351 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... |
ORPHA:314655 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Seizure, Histiocytoid cardiomyop... |
OMIM:300952 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplastic hippocampus, Infantile spasms, Spastic tetraparesis, Seizure, Myoclonus, Low-set ears... |
OMIM:614261 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Keratitis, Sensorineural hearing impairment, Babinski sig... |
OMIM:278800 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... |
ORPHA:171695 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Seizure, Spasticity, Hypertonia, Myoclonus |
ORPHA:3078 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Seizure, Myoclonus |
ORPHA:251004 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... |
OMIM:300672 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Generaliz... |
OMIM:619229 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Atrial fibrillation, Ataxia, Tremor, Rigidity, Dilated cardiomyopathy, Gait ataxi... |
ORPHA:254892 |
Cog8-Cdg |
|
Seizure, Ataxia, Myoclonus |
ORPHA:95428 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Japanese Encephalitis |
|
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor... |
ORPHA:79139 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Spasticity |
ORPHA:500144 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Eczema, Seizure, Lower limb hypertonia, Recurrent otitis media |
OMIM:169400 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... |
OMIM:613839 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Seizure, Limb h... |
OMIM:618076 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My... |
OMIM:614222 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges |
ORPHA:453510 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Prominent... |
OMIM:615802 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Cardiac arrest, Spastic hemiparesis, Dilated cardiomyopathy, Seizure, Myoclonus, Hypotens... |
ORPHA:20 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Hyperostosis Cranialis Interna |
|
Sensorineural hearing impairment, Tinnitus, Epiphora |
OMIM:144755 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Abnormal central motor function, Involuntary movements, Paralysis, Tr... |
ORPHA:3385 |
Atrial Septal Defect 1 |
|
Second degree atrioventricular block, Aortic valve stenosis |
OMIM:108800 |
Lacrimal Duct Defect |
|
Sinusitis, Conjunctivitis, Epiphora |
OMIM:149700 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia, Tongue fasciculations |
ORPHA:70 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Cardiomyopathy |
OMIM:619566 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo... |
OMIM:620070 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Athetosis,... |
ORPHA:25 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Myoclonic seizure, Limb hypertonia, Fasciculations, Hearing... |
OMIM:620327 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, G... |
OMIM:300912 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... |
OMIM:620224 |
Classic Phenylketonuria |
|
Eczema, Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia |
ORPHA:79254 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Cerebral palsy, Skin rash, Ataxia, Hemiplegia/hemiparesis, Sensorineural hearing im... |
ORPHA:36412 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Seizure, Spasticity, Myoclonus |
OMIM:246450 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension, Cortical myoclonus |
ORPHA:428 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Tremor, Hydrocephalus, Seizure, Gait di... |
ORPHA:220497 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Seizure, Arthritis, Bilateral sensorineural hearing impairment |
ORPHA:397744 |
Cinca Syndrome |
|
Skin rash, Uveitis, Seizure, Arthritis, Progressive sensorineural hearing impairment, Hearing imp... |
OMIM:607115 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus |
OMIM:609541 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Sensorineural hearing impairment, Generalized ... |
OMIM:614207 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Telangiectasia, Seizure, Myoclonus, Oculomotor apraxia |
ORPHA:247262 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Sensorineural hearing impairment, B... |
ORPHA:423479 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus callosum, Sensorineural hearin... |
ORPHA:488627 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Myelomeningocele, Lacrimation abnormality, Hearing impairment |
ORPHA:3440 |
Hydroxykynureninuria |
|
Tachycardia, Hypertonia, Hypotension |
ORPHA:79155 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Bilateral tonic-clonic seizure, Eczema, Pneumonia, B... |
ORPHA:436159 |
Tay-Sachs Disease |
|
Seizure, Exaggerated startle response |
OMIM:272800 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Seizure, Reduced left ventricula... |
ORPHA:99829 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment, Decreased lacrimation, Conjunctivitis, Erythroderma |
OMIM:242150 |
Hereditary Coproporphyria |
|
Seizure, Tachycardia |
ORPHA:79273 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic... |
ORPHA:391428 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Seizure, Dystonia |
ORPHA:438216 |
Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Limb ataxia, Gait ataxia, Hypertro... |
OMIM:229300 |
Congenital Disorder Of Deglycosylation 1 |
|
Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Athetosis, Seizure, Hyperkinetic mov... |
OMIM:615273 |
Slc35A2-Cdg |
|
Hypoplastic hippocampus, Spastic tetraparesis, Infantile spasms, Inability to walk, Sensorineural... |
ORPHA:356961 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Epiphora, Cupped ear, Low-set ears |
OMIM:167730 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Focal-onset sei... |
ORPHA:163681 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Ataxia, Action tremor, Inability to walk, Spasti... |
ORPHA:191 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Pulmonic stenosi... |
ORPHA:435638 |
Refsum Disease |
|
Ataxia, Heart block, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Cardiomyopathy |
ORPHA:773 |
Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment |
OMIM:120100 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz... |
ORPHA:139396 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Eczema, Bilateral tonic-clonic seizure, Inability to walk, Vocal c... |
OMIM:617799 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis |
OMIM:617186 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspi... |
ORPHA:646 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... |
OMIM:252160 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Infantile spasms, Sensorineural hearing... |
OMIM:618733 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Hypoplastic hippocampus, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, No... |
ORPHA:314647 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myoclonus, Ap... |
ORPHA:209905 |
Angelman Syndrome |
|
Ataxia, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypical absence seizur... |
ORPHA:72 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ataxia, Sensorineural hearing impairment, Abnormal pyramidal sign, Seizure, Spasticity, Decreased... |
ORPHA:163746 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Epiphora |
ORPHA:137599 |
Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Lacrimation abnormality |
ORPHA:2315 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Ataxia, Tremor, Hydrocephalus, Seizure, Gait di... |
ORPHA:220493 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Epiphora |
ORPHA:98957 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Lacrimation abnormality |
ORPHA:2916 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Myocarditis, Seizure, Infectious encephalitis |
ORPHA:83317 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Bilateral tonic-clonic seizure, Underfolded helix, Posteriorly rotated ears, Focal-onset seizure,... |
OMIM:618316 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... |
OMIM:254900 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Seizure, Hypertonia, Hyperkinetic movements |
OMIM:236270 |
Lamb-Shaffer Syndrome |
|
Seizure, Abnormal social behavior, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Dilated cardiomyopathy, Babinski sign, Dysmetria, Gait ataxia, Seizure, Mitral regurgitat... |
OMIM:607459 |
Immunodeficiency 23 |
|
Ataxia, Vasculitis in the skin, Cortical myoclonus, Myoclonus |
OMIM:615816 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Seizure, Ataxia |
ORPHA:79095 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... |
OMIM:617798 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Sensorineural hea... |
OMIM:216400 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Low-set ears, Oculomotor... |
ORPHA:475 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Atypical absence status epilepticus, Capillary lea... |
ORPHA:99826 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Sensorineural hearing impairment, Recurrent skin infections, Decreased lacrimation |
OMIM:616488 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Epiphora |
OMIM:616353 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... |
ORPHA:860 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum, Hippocampal malrotation |
OMIM:614402 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset ... |
ORPHA:217253 |
Sunct Syndrome |
|
Increased tear production, Epiphora |
ORPHA:57145 |
Typhoid |
|
Tremor, Hypertonia, Ataxia |
ORPHA:99745 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... |
OMIM:620024 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Seizure, Ataxia, Myoclonus |
ORPHA:98794 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage, Opisthotonus |
ORPHA:335 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Bohring-Opitz Syndrome |
|
Seizure, Lower limb hypertonia, Bradycardia |
ORPHA:97297 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Clumsiness |
ORPHA:90674 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Uveitis, Limb hypertonia, Conjunctivitis, Gait disturbance, Diffic... |
ORPHA:90322 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressiv... |
OMIM:208900 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Seizure, Myoclonus, Myoclonic seizure |
OMIM:614946 |
Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Sensorineural hea... |
OMIM:133540 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Seizure, Athetosis, Lateral ... |
ORPHA:572798 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus |
OMIM:600072 |
Gitelman Syndrome |
|
Prolonged QT interval, Paralysis, Raynaud phenomenon, Focal-onset seizure, Low-to-normal blood pr... |
ORPHA:358 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia |
ORPHA:2752 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Seizure, Tachycardia |
ORPHA:263455 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Epiphora, Hearing impairment |
OMIM:613990 |
Dystonia-Aphonia Syndrome |
|
Seizure, Myoclonus |
ORPHA:412217 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures |
ORPHA:94089 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Seizure, Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
Amish Lethal Microcephaly |
|
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Spina bifida, Limb hypertonia |
ORPHA:99742 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block |
OMIM:617063 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Abnormality of extrapyramidal motor function, Difficulty walking, P... |
ORPHA:320406 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation |
OMIM:619705 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Tremor, Congestive heart failure, Hypertension, Hyperkinetic movements, Palp... |
ORPHA:525731 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Wolfram Syndrome 1 |
|
Tremor, Seizure, Ataxia |
OMIM:222300 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Epiphora |
ORPHA:293381 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr... |
ORPHA:512 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Bilateral tonic-clonic seizure, Portal hypertension, Paraparesis, Paraplegia, Hemiparesis, Pulmon... |
ORPHA:79124 |
W Syndrome |
|
Spasticity, Acne, Bilateral tonic-clonic seizure |
ORPHA:2804 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Epiphora |
ORPHA:141083 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Seizure, Hyperkinetic movements |
ORPHA:289522 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Seizure, Abnormality of extrapyramidal motor function, De... |
ORPHA:79255 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Ge... |
OMIM:614756 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Epiphora... |
OMIM:158310 |
Alexander Disease |
|
Ataxia, Clonus, Tremor, Aqueductal stenosis, Hydrocephalus, Chorea, Abnormal pyramidal sign, Tetr... |
ORPHA:58 |
1Q44 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Bilateral tonic-clonic seizure |
ORPHA:238769 |
Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
Glass Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Seizure, Low-set ears... |
OMIM:612313 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... |
OMIM:301072 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Cupped ear, Microtia, Conjunctivitis, Alacrima, Hearing impairment |
OMIM:620192 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, EEG with generalized slow activity, Tonic seizure, Seizure, Atonic ... |
OMIM:618367 |
Familial Dysautonomia |
|
Alacrima, Seizure, Ataxia, Gait disturbance |
ORPHA:1764 |
Vici Syndrome |
|
Sensorineural hearing impairment, Chronic mucocutaneous candidiasis, Seizure, Low-set ears, Abnor... |
OMIM:242840 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, R... |
ORPHA:2203 |
Eec Syndrome |
|
Lacrimation abnormality, Keratitis, External ear malformation, Sensorineural hearing impairment, ... |
ORPHA:1896 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Tremor, Seizure, Recurrent o... |
OMIM:619680 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Porphyria Variegata |
|
Tachycardia, Hypertension, Seizure, Respiratory paralysis, Tetraparesis |
ORPHA:79473 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Ataxia, Pneumonia, Pustule, Hemiparesis, Seizure, Abnormal hypothalamus morphology, In... |
ORPHA:68 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Dilated cardiomyopathy, Concentric hypertrophic c... |
OMIM:610505 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Clonus, Tremor, Clonic seizure, Spastic tetraplegia, Seizure, Limb ... |
OMIM:615574 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Infantile spasms, Seizure, Athetosis, Hyperkinetic movements, Spasticity |
OMIM:612073 |
Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Lacrimation abnormality, Clonus, Cheilitis, Protruding ear, Ar... |
ORPHA:534 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Trisomy 8P |
|
Posteriorly rotated ears, Hydrocephalus, Aplasia/Hypoplasia of the tragus, Seizure, Conductive he... |
ORPHA:264450 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Progr... |
ORPHA:575 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Cardiomyopathy, Arrhythmia, Seizure |
ORPHA:228308 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Generalized-onset seizure, Posteriorly rotated ears, Rigidity, Babi... |
OMIM:617527 |
Pgm3-Cdg |
|
Ataxia, Seizure, Vasculitis in the skin, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Hydrocephalus, Tetraplegia, Seizure, Lo... |
OMIM:257300 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Inability to walk, Babinski sign, Tongue tremor, Atopic dermatitis, Diaphragmatic paralys... |
ORPHA:466768 |
Gaucher Disease |
|
Osteomyelitis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hemiplegia/hemiparesis, Hydrocepha... |
ORPHA:355 |
Carcinoid Syndrome |
|
Epiphora |
ORPHA:100093 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus, Hypertrophic cardiomyopathy |
ORPHA:17 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Exaggerated startle response, Hydrocephalus, Seizure, Holoprosencephaly, Agenesis ... |
OMIM:253800 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Diaphragmatic para... |
OMIM:232300 |
Listeriosis |
|
Pericarditis, Ataxia, Tremor, Myocarditis, Congestive heart failure, Hemiparesis, Seizure, Arteri... |
ORPHA:533 |
Farber Disease |
|
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity |
ORPHA:333 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Leukodystrophy, Hypomyelinating, 10 |
|
Seizure, Spasticity, Babinski sign, Hyperkinetic movements |
OMIM:616420 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
X Small Rings |
|
Seizure, Mitral stenosis, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... |
OMIM:277590 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Epiphora, Cupped ear, Low-set ears |
ORPHA:2399 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Bilateral tonic-clonic seizure, Hypovolemia, Apraxia, Generalized myoclonic seizure |
ORPHA:99885 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Sensorineural hearing impairment, Alacrima |
OMIM:608088 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements |
OMIM:617302 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Seizure, Sinus bradycardia |
OMIM:619482 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Chorea, Reduced left ventricular ejection fraction |
ORPHA:268 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... |
ORPHA:99956 |
48,Xxxy Syndrome |
|
Tremor, Seizure, Abnormal social behavior, Chronic otitis media |
ORPHA:96263 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Low-set ears, Decreased lacrimation |
OMIM:613451 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Focal-onset seizure, Abnormal hippocampus morphology, Microtia, Overfolded helix, Lop ear |
ORPHA:436003 |
9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
Cholera |
|
Seizure, Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Williams Syndrome |
|
Low-set, posteriorly rotated ears, Ataxia, Lacrimation abnormality, Involuntary movements, Tremor... |
ORPHA:904 |
Posterior Polymorphous Corneal Dystrophy |
|
Lacrimation abnormality |
ORPHA:98973 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Tremor, Congestive heart failure, Hypertension, Seizure, Palpitation... |
ORPHA:91347 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc... |
ORPHA:447997 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Tonic seizure, Aqueductal stenosis, Hyd... |
OMIM:619512 |
Stuve-Wiedemann Syndrome 1 |
|
Seizure, Low-set ears, Decreased lacrimation |
OMIM:601559 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Seizure, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Developmental And Epileptic Encephalopathy 89 |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Hypert... |
OMIM:619124 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Infantile spasms, Congestive heart failure, Chorea, Spastic dipleg... |
ORPHA:506 |
Hallermann-Streiff Syndrome |
|
Bilateral tonic-clonic seizure, Spina bifida, Recurrent pneumonia, Choreoathetosis, Low-set ears |
OMIM:234100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Seizure, Tachycardia |
ORPHA:348 |
Holoprosencephaly 14 |
|
Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Par... |
OMIM:619895 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturbance, Low-set ears, ... |
ORPHA:1454 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Spasticity, Ataxia, Alacrima, Hearing impairment |
OMIM:615510 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Cupped ear, Conjunctivitis, Low-set ears, Alacrima |
OMIM:615560 |
Fg Syndrome Type 1 |
|
Broad-based gait, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Seizure, Microtia,... |
ORPHA:93932 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Bilateral tonic-clonic seizure, G... |
ORPHA:457359 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms |
OMIM:252150 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Impaired social interactions, Dystonia, Spasticity |
ORPHA:2828 |
Pitt-Hopkins Syndrome |
|
Incoordination, Hypoplastic hippocampus, Cupped ear, Gait ataxia, Seizure, Thickened helices |
OMIM:610954 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Seizure, Epileptic spasm, Infantile spasms |
OMIM:191100 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... |
OMIM:203700 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... |
ORPHA:369837 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Involuntary movements, Choreoathetosis, Hypertension, Myoclonic spasms, Hy... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures |
ORPHA:79444 |
Cone-Rod Dystrophy 10 |
|
Epiphora |
OMIM:610283 |
Acute Intermittent Porphyria |
|
Tachycardia, Tremor, Hypertension, Seizure, Pseudobulbar paralysis, Respiratory paralysis |
ORPHA:79276 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Protruding ear... |
ORPHA:268261 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Lacrimation abnormality, Aqueductal stenosis, External ear mal... |
ORPHA:138 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Seizu... |
OMIM:301040 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Cone-Rod Dystrophy 8 |
|
Epiphora |
OMIM:605549 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Photosensitive tonic-clonic seizure, Seizure, Hyperkinetic movements, Truncal ataxia |
OMIM:300243 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Concentric hypertrophic cardiomyopathy, Sp... |
OMIM:252010 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... |
OMIM:601104 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Sensorineural hearing impairment, Uveitis, Scleritis, Conjunctivitis, In... |
ORPHA:1467 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D... |
OMIM:612199 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Alacrima, Multifocal seizures, Uplifted earlobe, Myoclonic seizure |
OMIM:618548 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Babinski sign, Ataxia, Alacrima |
OMIM:231550 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Sensorineural hearing impairment, Poor ... |
ORPHA:466943 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Cupped ear, Microtia, Alacrima, Hearing impairment |
OMIM:620193 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Delayed early-childhood social milestone development, Alacrima |
ORPHA:289483 |
D-Bifunctional Protein Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Gliosis, Low-set ears, Hearing impairment |
OMIM:261515 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Anteverted ears, Inability to walk, Focal-onset seizure, ... |
ORPHA:459070 |
Cinca Syndrome |
|
Retrobulbar optic neuritis, Sensorineural hearing impairment, Uveitis, Inflammatory abnormality o... |
ORPHA:1451 |
Poliomyelitis |
|
Paralysis, Paraparesis, Hypertension, Hypovolemic shock, Hyperkinetic movements, Fasciculations, ... |
ORPHA:2912 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hypertonia, Clonus, Low-set ears |
OMIM:617301 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear... |
ORPHA:2363 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Sensorineural hearing impairment, Seizure, Impaired social interactions, Infectious encephalitis,... |
ORPHA:293987 |
Webb-Dattani Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:615926 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Abnorm... |
ORPHA:513456 |
Hydranencephaly |
|
Hypoplastic hippocampus, Spastic diplegia, Opisthotonus, Seizure, Infantile sensorineural hearing... |
ORPHA:2177 |
Lathosterolosis |
|
Seizure, Myoclonus |
ORPHA:46059 |
Hartsfield Syndrome |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Alobar holoprosencephaly, Lobar holopro... |
OMIM:615465 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Kilquist Syndrome |
|
Alacrima, Bilateral sensorineural hearing impairment, Low-set ears |
OMIM:619080 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Seizure, Epileptic spasm, Infantile spasms |
OMIM:613254 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Uplifted earlobe, Myoclonic seizure, Gait ataxi... |
OMIM:280000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Incoordination, Tachycardia |
OMIM:223900 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Epiphora |
OMIM:224230 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, ... |
OMIM:301044 |
Schinzel-Giedion Syndrome |
|
Epileptic spasm, Abnormality of the stapes, Recurrent pneumonia, Vocal cord paralysis, Neural tub... |
ORPHA:798 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Focal motor seizure, Seizure, Large earlobe, Hypertonia, Febrile seizure (with... |
ORPHA:1675 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Sensorineural hearing im... |
ORPHA:728 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis |
OMIM:617044 |
Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Chilblains, Tremor, Hemiplegia/hemiparesis, Abnormal ... |
ORPHA:51 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, EBV encephalitis, Uveitis |
OMIM:615122 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal sign, Spasti... |
ORPHA:909 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Broad-based gait, Bilateral tonic-clonic seizure, Eczema, Posteriorly rotated ears, Recurrent pne... |
OMIM:620330 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Alacrima |
OMIM:240000 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication |
ORPHA:416 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Cerebral hemorrhage, Focal-onset seizu... |
ORPHA:2495 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... |
OMIM:614921 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile seizure, Typical absence... |
ORPHA:466950 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Seizure, Dilated cardiomyopathy, Pulmonic stenosis |
OMIM:619343 |
Incontinentia Pigmenti |
|
Skin rash, Keratitis, Hemiplegia/hemiparesis, Uveitis, Seizure, Gait disturbance, Spasticity, Spi... |
ORPHA:464 |
X-Linked Intellectual Disability, Snyder Type |
|
Generalized myoclonic seizure, Involuntary movements, Focal motor seizure, Myoclonus |
ORPHA:3063 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Sialuria |
|
Seizure, Hyperkinetic movements |
ORPHA:3166 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Incoordination, Ataxia, Congestive heart failure, Babinski sign, Concentric hypertr... |
OMIM:601992 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
Deeah Syndrome |
|
Alacrima, Seizure, Low-set ears, Hearing impairment |
OMIM:619004 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Seizure, Alacrima |
OMIM:619005 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Bronchiectasis, Uveitis |
OMIM:612387 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine, Epiphora |
OMIM:181000 |
Alacrima, Congenital, Autosomal Recessive |
|
Alacrima |
OMIM:601549 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Punctate keratitis, Keratoconjunctivitis sicca, Thyroiditis, Uveitis |
OMIM:617388 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Localized Scleroderma |
|
Fasciitis, Uveitis, Arthritis, Seizure, Focal impaired awareness seizure, Esophagitis, Hashimoto ... |
ORPHA:90289 |
Dyskeratosis Congenita, X-Linked |
|
Epiphora, Ataxia, Conjunctivitis, Blepharitis |
OMIM:305000 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Knee osteoarthritis, Oligoarthritis, Uveitis |
ORPHA:85410 |
Benign Schwannoma |
|
Allodynia, Abnormality of peripheral nervous system electrophysiology |
ORPHA:252164 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Epileptic spasm, Involuntary movements, Inability... |
ORPHA:438213 |
Dyskeratosis Congenita, Digenic |
|
Epiphora |
OMIM:620040 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Ataxia, Paraparesis, Uveitis, Seizure, Tetraparesis, Conductive hearin... |
OMIM:164200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Generalized-onset seizure, Eczema, Spina bifida, Hearing impairment, Focal hemicl... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Generalized-onset seizure, Eczema, Spina bifida, Hearing impairment, Focal hemicl... |
ORPHA:363958 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Joubert Syndrome 1 |
|
Oculomotor apraxia, Hemifacial spasm, Ataxia |
OMIM:213300 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Seizure, Myoclonus, Tetraplegia |
OMIM:618278 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
Oliver Syndrome |
|
Small earlobe, Bilateral tonic-clonic seizure, Absent earlobe |
ORPHA:2920 |
Transketolase Deficiency |
|
Seborrheic dermatitis, Conjunctivitis, Uveitis, Hearing impairment |
ORPHA:488618 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Scimitar Syndrome |
|
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension |
ORPHA:185 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Febr... |
ORPHA:810 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Alacrima |
OMIM:300858 |
Alacrima, Congenital, Autosomal Dominant |
|
Alacrima, Decreased lacrimation |
OMIM:103420 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Seizure, Hemiparesis |
ORPHA:369950 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Epiphora |
OMIM:122000 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... |
ORPHA:31204 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Hydrocephalus, Seizure, Low-set ears, Abnormal social behavi... |
ORPHA:401973 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Sensorineural hearing impairment, Generalized non-motor (... |
OMIM:612474 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Rift Valley Fever |
|
Skin rash, Paralysis, Paraparesis, Hepatitis, Uveitis, Hemiparesis, Decerebrate rigidity, Infecti... |
ORPHA:319251 |
Isolated Congenital Alacrima |
|
Keratitis, Conjunctivitis, Alacrima |
ORPHA:91416 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... |
ORPHA:32960 |
Apert Syndrome |
|
Abnormal morphology of the limbic system, Acne, Chronic otitis media, Agenesis of corpus callosum... |
OMIM:101200 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Hi... |
ORPHA:85408 |
Stüve-Wiedemann Syndrome |
|
Lacrimation abnormality |
ORPHA:3206 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... |
ORPHA:505248 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Cartilage-Hair Hypoplasia |
|
Heart block, Cardiomyopathy |
ORPHA:175 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Tick-Borne Encephalitis |
|
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... |
ORPHA:297 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis |
OMIM:107320 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Persistent Hyperplastic Primary Vitreous |
|
Epiphora |
ORPHA:91495 |
Prader-Willi Syndrome Due To Translocation |
|
Seizure, Lateral ventricle dilatation, Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Keratitis, Uveitis, Seizure, Spasticity |
OMIM:308300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Seizure, Spasticity, Myoclonus |
OMIM:253280 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Uveitis |
ORPHA:158000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Gastroin... |
ORPHA:95455 |
Doors Syndrome |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclonus, Aspiration pneumonia... |
ORPHA:79500 |
Helix Syndrome |
|
Alacrima |
OMIM:617671 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor, Conductive hearing impairm... |
ORPHA:821 |
Episodic Ataxia Type 1 |
|
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Posteriorly rotated ears, Uplifted earlobe, Inability to walk, Focal-on... |
ORPHA:2152 |
Kabuki Syndrome 1 |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure with focal onset, Hydrocephalus, Protrud... |
OMIM:147920 |
Tuberous Sclerosis Complex |
|
Epileptic spasm, Infantile spasms, Focal-onset seizure, Noncommunicating hydrocephalus, Seizure, ... |
ORPHA:805 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Seizure, Colitis, Pann... |
ORPHA:3261 |
Orofaciodigital Syndrome Type 2 |
|
Conductive hearing impairment, Bilateral tonic-clonic seizure, Protruding ear |
ORPHA:2751 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Eczema, Keratitis, Cheilitis, Uveitis, Scleritis, Seizure, Agenesis of corpus callo... |
ORPHA:2273 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy |
ORPHA:522077 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Low-set ears, Decreased lacrimation |
ORPHA:572333 |
Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Abnormal hippocampus morphology, Cupped ear, Large earlobe, Seizure, Recurrent ... |
OMIM:235730 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Inability to walk, Focal-onset seiz... |
ORPHA:261537 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Seizure, Hypertonia, Hyperkinetic movements, Spasticity |
ORPHA:468631 |
Bloom Syndrome |
|
Skin rash, Pneumonia, Cheilitis, Uveitis, Rhinitis, Otitis media |
ORPHA:125 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... |
ORPHA:797 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Inability to walk, Focal-onset seiz... |
ORPHA:261552 |
Smith-Lemli-Opitz Syndrome |
|
Hypertension, Seizure, Hypertonia, Hypertrophic cardiomyopathy, Ventricular fibrillation |
OMIM:270400 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Tubuloint... |
ORPHA:91500 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Plague |
|
Tachycardia, Hematemesis, Slurred speech, Hypotension, Arrhythmia |
ORPHA:707 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Seizure, Microtia, Low-set ears, Small ea... |
OMIM:619522 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis |
ORPHA:3384 |
Primary Sclerosing Cholangitis |
|
Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pancreatitis |
ORPHA:171 |
Hepatoerythropoietic Porphyria |
|
Scleritis, Recurrent bacterial skin infections, Seborrhoeic blepharitis, Keratoconjunctivitis |
ORPHA:95159 |
Stickler Syndrome |
|
Hemiplegia/hemiparesis, Sensorineural hearing impairment, Osteoarthritis, Uveitis, Chronic otitis... |
ORPHA:828 |
Degcags Syndrome |
|
Pulmonary arterial hypertension, Tachycardia, Vocal cord paralysis, Pulmonic stenosis |
OMIM:619488 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Cupped ear, Microtia, Conjunctivitis, Alacrima, Hearing impairment |
OMIM:149730 |
Leprosy |
|
Steppage gait, Iritis, Uveitis |
ORPHA:548 |
Hallermann-Streiff Syndrome |
|
Uveitis |
ORPHA:2108 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Uveitis |
OMIM:221900 |
Congenital Erythropoietic Porphyria |
|
Scleritis, Recurrent bacterial skin infections, Seborrhoeic blepharitis, Keratoconjunctivitis |
ORPHA:79277 |
Cardiac-Urogenital Syndrome |
|
Tachycardia |
OMIM:618280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Retinoblastoma |
|
Uveitis |
ORPHA:790 |