| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Sensorineural hearing impairment, Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Axial hypotonia |
OMIM:616921 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Vertigo, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Axial hypotonia |
ORPHA:494526 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Generalized hypotonia, Hypotonia |
OMIM:213000 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Parkinsonism, Chorea |
OMIM:616922 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Generalized hypotonia, Chorea, Hypotonia |
OMIM:614055 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Neurodegeneration With Brain Iron Accumulation |
|
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Dystonia |
ORPHA:385 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia |
ORPHA:98809 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... |
ORPHA:98811 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Generalized hypotonia, Truncal ataxia, Chorea, Athetosis, Choreo... |
OMIM:130950 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment |
ORPHA:217012 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea |
ORPHA:494541 |
| Acid Phosphatase Deficiency |
|
Generalized hypotonia, Opisthotonus, Hypotonia |
OMIM:200950 |
| Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Chorea, Benign Hereditary |
|
Chorea |
OMIM:118700 |
| Dystonia With Ringbinden |
|
Dystonia, Chorea |
OMIM:224550 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Involuntary movements, Spasticity, Dystonia |
OMIM:617282 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... |
ORPHA:13 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Clonus, Poor moto... |
OMIM:500003 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Cataract 11, Multiple Types |
|
Hypertonia, Chorea |
OMIM:610623 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
| Nathalie Syndrome |
|
Hearing impairment, Abnormal EKG |
OMIM:255990 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Opisthotonus, Parkinsonism, Apraxia, Choreoathetosis, Spasticity, Spastic tetraparesis, Dystonia,... |
OMIM:619653 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor, Neonatal hypotonia |
OMIM:300703 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Generalized hypotonia |
OMIM:606053 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Stereotypical hand wringing, Chorea, Axial hypotonia |
OMIM:618760 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Generalized hypotonia, Tremor |
OMIM:264070 |
| Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Spastici... |
OMIM:616981 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia, Axial hypotonia |
ORPHA:324588 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Babinski sign, Chorea, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:258501 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Dystonia, Chorea |
ORPHA:98934 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia |
OMIM:619647 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia, Dystonia, Axial hypot... |
OMIM:619150 |
| Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity |
ORPHA:401849 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Athetosis, Choreoathetosis, Involuntary movements, Paroxysmal dyskinesia, Dystonia |
ORPHA:31709 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia |
OMIM:618317 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... |
ORPHA:251282 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Generalized hypotonia, Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spastici... |
OMIM:617493 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia |
OMIM:159900 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Hypot... |
OMIM:606703 |
| Spinocerebellar Ataxia Type 38 |
|
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia |
OMIM:606438 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis, Axial hypotonia |
OMIM:617270 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hypertonia, Ataxia, Upper limb spasticity, Opisthotonus, Retrocollis, Spastic diplegia, Babinski ... |
OMIM:205100 |
| Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait dist... |
ORPHA:363710 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... |
OMIM:607483 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Autism |
|
Motor stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Ataxia, Cochlear degeneration |
OMIM:271250 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Severe muscular hypotonia, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spastici... |
OMIM:614254 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia |
OMIM:601238 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Myoclonus, Ataxia |
OMIM:159800 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Parkinsonism, Chorea, Motor tics |
OMIM:615483 |
| Choreoathetosis, Familial Inverted |
|
Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis |
OMIM:118750 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Generalized hypotonia, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait a... |
ORPHA:94122 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... |
ORPHA:2589 |
| Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Chorea, Spasticity, Hypotonia, Dystonia, Axial hypotonia |
OMIM:616139 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
| Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Dysmetria, Chorea |
OMIM:603218 |
| Developmental And Epileptic Encephalopathy 17 |
|
Dystonia, Chorea, Athetosis |
OMIM:615473 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:118800 |
| Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Park... |
OMIM:617013 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hypotonia |
DECIPHER:8 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Spastic tetraplegia, Chorea, Clonus |
OMIM:613811 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
| Snijders Blok-Fisher Syndrome |
|
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Facial hypotonia |
OMIM:618604 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Generalized hypotonia, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
| Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Generalized hypotonia, Parkinsonism, Fasciculations, Chorea, Kinet... |
ORPHA:98756 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Opisthotonus, Axial hypotonia |
OMIM:616896 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyro... |
ORPHA:705 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign |
OMIM:300660 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Infantile Dystonia-Parkinsonism |
|
Hypertonia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Cerebral palsy,... |
ORPHA:238455 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
| Huntington Disease |
|
Rigidity, Gait ataxia, Bradykinesia, Chorea |
OMIM:143100 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Myoclonus |
OMIM:614937 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy, Appendicular hypotonia, Axial hypotonia, Hypotonia |
OMIM:620033 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Hypertonia, Ataxia, Axial dystonia, Opisthotonus, Retrocollis, Spastic di... |
ORPHA:300605 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Paroxysmal dyskinesia, Generalized hypotonia, Chorea |
ORPHA:79137 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Generalized hypotonia |
OMIM:617862 |
| Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypotonia |
OMIM:619561 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Dysmetria, Chorea, Gait ataxia, Axial hypotonia |
OMIM:618501 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea |
OMIM:607674 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval, Ventricular fibrillation, Profou... |
ORPHA:90647 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Sensorineural hearing impairment, Clumsiness, Dysmetria, Poor coordination, Ank... |
OMIM:270500 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Heart block, Syncope, Vertigo, Congestive heart failure |
ORPHA:871 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:104290 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
| Ravine Syndrome |
|
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... |
ORPHA:99852 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Writ... |
ORPHA:98759 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Generalized hypotonia, Rigidity, Tremor, S... |
ORPHA:98763 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Neonatal hypotonia |
OMIM:302500 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Opisthotonus, Extrapyramidal dyskinesia, Limb hypertonia, Babinski sign, Chorea, Spasticity, Clon... |
OMIM:612389 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Spinocerebellar Ataxia 17 |
|
Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Positive Romberg sign,... |
OMIM:607136 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Cochlear degeneration, Diabetes mellitus, Slowed slurred speech, Progressive sensorineura... |
OMIM:172500 |
| Atrial Standstill |
|
Abnormal heart morphology, Hemiplegia, Ventricular escape rhythm, Abnormal P wave, Atrial standst... |
ORPHA:1344 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
| Congenital Disorder Of Glycosylation, Type Ip |
|
Neonatal hypotonia, Opisthotonus |
OMIM:613661 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait |
OMIM:614063 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment |
ORPHA:101075 |
| Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... |
ORPHA:157946 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
| Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chorea, Oral motor hypo... |
ORPHA:248111 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
| Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Hypotonia, Opisthotonus, Axial hypotonia |
OMIM:619814 |
| Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:614820 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Opisthotonus |
OMIM:250800 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Striatonigral Degeneration, Infantile |
|
Dystonia, Choreoathetosis, Spasticity |
OMIM:271930 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
| Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Glutaric Acidemia I |
|
Opisthotonus, Spastic diplegia, Generalized hypotonia, Rigidity, Choreoathetosis, Hypotonia, Dyst... |
OMIM:231670 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Generalized hypotonia |
OMIM:617830 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Progressive spastic paraplegia, Limb tremor, Spastic gait, Lower limb spasticity |
ORPHA:401820 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations |
ORPHA:85162 |
| Developmental And Epileptic Encephalopathy 78 |
|
Neonatal hypotonia, Cerebral palsy, Generalized hypotonia, Chorea, Spasticity, Hypotonia |
OMIM:618557 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:619738 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticity, Dystonia, Abnormalit... |
OMIM:617672 |
| Sydenham Chorea |
|
Hemiballismus, Generalized hypotonia, Chorea |
ORPHA:306731 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Choreoathetosis, Parkinsonism |
OMIM:616413 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity, Dystonia |
OMIM:618917 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
| Rett Syndrome |
|
Cerebral cortical atrophy, Abnormal T-wave, EEG abnormality, Gait apraxia, Cachexia, Truncal atax... |
OMIM:312750 |
| Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity |
OMIM:312840 |
| Developmental And Epileptic Encephalopathy 84 |
|
Opisthotonus, Babinski sign, Generalized hypotonia, Chorea, Spasticity, Dystonia, Axial hypotonia |
OMIM:618792 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... |
OMIM:608029 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment |
ORPHA:101078 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hypertonia, Opisthotonus, Cerebral palsy, Babinski sign, Myoclonus, Spasticity, Spastic tetrapleg... |
OMIM:619847 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Generalized hypotonia, Tremor, Hypotonia |
OMIM:612016 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Loss of ambulation, Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Hypotonia, Generalized hypotonia, Chorea, Athetosis |
OMIM:309541 |
| Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
| Myoclonus, Intractable, Neonatal |
|
Myoclonus, Generalized hypotonia, Chorea, Athetosis |
OMIM:617235 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Hand tremor, Impaired vibration sensation in the lower limbs, D... |
ORPHA:352675 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Branchiootorenal Syndrome 1 |
|
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Euthyroid goiter, C... |
OMIM:113650 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Muscular ventricular septal defect, Atrophy/Degeneration affecting the bra... |
ORPHA:66634 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Hypotonia, Dystonia |
OMIM:261630 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Hypotonia |
OMIM:618709 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Chorea, Frequent falls, Gait ataxia, Oculomotor apraxia, Lower limb spasticit... |
OMIM:604391 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Generalized hypotonia, Spasticity |
OMIM:617393 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Nonprogressive cerebellar ataxia, Optic atrophy, Noncompaction cardiomyopat... |
OMIM:610198 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Generalized hypotonia, Chorea, Involuntary movements, Dystonia |
OMIM:617804 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor |
ORPHA:210571 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Myoclonus, Dysdiadochokinesis, Generalized hypotonia, Chorea... |
ORPHA:251347 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... |
ORPHA:454887 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Spastic dysarthria, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401830 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Generalized hypotonia, Chorea, Spasticity, Hypotonia, Dystonia |
ORPHA:88616 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Arrhythmia, Sick sinus syndrome, Patent ... |
ORPHA:542306 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Hearing impairment, Hemiplegia/hemiparesis, Ataxia |
ORPHA:480 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis, Hypotonia, ... |
OMIM:619317 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia, Axial hypotonia |
OMIM:619651 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Opisthotonus, Dystonia, Extrapyramidal dyskinesia, Chorea |
OMIM:277470 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Hypotonia... |
OMIM:213200 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Tremor, Adult onset sensorineural hearing i... |
ORPHA:1368 |
| Distal Monosomy 10Q |
|
High palate, Anal atresia, Protruding ear, Cochlear malformation, Congenital sensorineural hearin... |
ORPHA:96148 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Broad-based gait, Failure to thrive, Aganglionic megacolon, Underfo... |
OMIM:300352 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Infantile axial ... |
ORPHA:521406 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Intention tremor, Ataxia, Rigidity, Myoclonus |
OMIM:618876 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Babinski sign, Arrhythmia, Optic atrophy, I... |
ORPHA:480864 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Spasticity, Hypotonia, Dystonia |
OMIM:617820 |
| Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor |
OMIM:619988 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Abnormality of extrapyramidal motor function, Axial hypotonia |
OMIM:301020 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| D-Glyceric Aciduria |
|
Neonatal hypotonia, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia, H... |
OMIM:220120 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia |
OMIM:615010 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Opisthotonus, Myoclonus, Chorea, Tetraparesis, Hypotonia, Dystonia |
OMIM:616672 |
| Tetanus |
|
Hypertonia, Opisthotonus, Rigidity, Tremor, Spasticity of pharyngeal muscles |
ORPHA:3299 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Tinnitus, Prolonged QT interval, Hypertens... |
ORPHA:251274 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Lower limb spasticity |
OMIM:616948 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
High palate, Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Spasticity |
OMIM:300983 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... |
OMIM:617519 |
| Lesch-Nyhan Syndrome |
|
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Hypotonia, Dystonia, Abnormalit... |
OMIM:300322 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Generalized hyp... |
OMIM:619580 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Sensorineural hearing impairment, Torsade de pointes, Ataxia, Cerebral atrophy, Poor coordination... |
OMIM:616878 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor |
OMIM:615034 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Ileus, Absent brainstem auditory responses, Hypoplasia of th... |
OMIM:609136 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Generalized hypotonia, Hypotonia |
OMIM:239500 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity |
OMIM:210000 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Neonatal hypotonia, Spasticity, Opisthotonus |
OMIM:610678 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... |
ORPHA:284332 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal moto... |
OMIM:604290 |
| Huntington Disease-Like 3 |
|
Ataxia, Abnormal pyramidal sign, Chorea, Spasticity, Dystonia, Abnormality of extrapyramidal moto... |
OMIM:604802 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonus, Hyperkinetic movements, Choreoathetosis, Hypotonia, Dystonia |
OMIM:618497 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Babinski sign, Chorea, Choreoathetosis, Spasticity, Dystonia |
OMIM:618451 |
| Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Opisthotonus, Spastic tetraplegia, Hypotonia, Eyelid myoclonus |
OMIM:619913 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Hypotonia |
ORPHA:397933 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Neonatal hypotonia, Hyperkinetic movements, Choreoathetosis, Involuntar... |
OMIM:618218 |
| Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... |
ORPHA:157941 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... |
OMIM:601005 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Infantile muscular hypotonia, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, Spas... |
ORPHA:500180 |
| Apert Syndrome |
|
Ectopic anus, Sensorineural hearing impairment, Conductive hearing impairment, Narrow palate, Ova... |
ORPHA:87 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Babinski sign, Generalized hypotonia, Progressive spasticity, Choreoathetosis, Hypotonia |
OMIM:612233 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Sensorineural hearing impairment, Progressive cerebellar ataxia, Impaired vibration sensation in ... |
ORPHA:352641 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Dystonia, Generalized hypotonia, Spasticity, Chorea |
OMIM:613970 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hypertrophy, T-wave inversion, Vent... |
ORPHA:263297 |
| Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Somatic sensory dysfunction, Abnormal EKG... |
ORPHA:1177 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia, Axial hypotonia |
OMIM:612716 |
| Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Motor stereotypy, Hypotonia |
OMIM:619470 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:616140 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Athetosis, Spastic tetraplegia, Hypotonia, Dystonia |
OMIM:619922 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Low-set ears, Ataxia, Tremor |
OMIM:618951 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Decreased body weight, Hyperactivity |
OMIM:608747 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hypertonia, Ataxia, Opisthotonus, Myoclonus, Spastic paraplegia, Choreoathetosis, Spasticity, Hyp... |
OMIM:614969 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... |
ORPHA:445038 |
| Pseudohypoparathyroidism Type 2 |
|
Paresthesia, Laryngeal dystonia, Prolonged QT interval, Myoclonic spasms |
ORPHA:94090 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment |
ORPHA:99014 |
| Dystonia 9 |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Frequent falls, Spasticity, Opisthotonus, Generalized dystonia |
ORPHA:216866 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231169 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Choreoathetosis |
OMIM:616230 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia, Axia... |
OMIM:261640 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
| Oculorenocerebellar Syndrome |
|
Spastic diplegia, Choreoathetosis |
OMIM:257970 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
| Gabriele-De Vries Syndrome |
|
Abnormal pinna morphology, Tremor, Waddling gait, Posteriorly rotated ears, Dystonia |
OMIM:617557 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... |
ORPHA:95433 |
| Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... |
OMIM:274600 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
| Canavan Disease |
|
Abnormal pyramidal sign, Opisthotonus, Hypotonia |
OMIM:271900 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Cerebral atrophy, Ankle clonus, Babinski sign, Spasticity, Spas... |
OMIM:616657 |
| Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Choreoathetosis, Spasticity, Hypotonia, Spastic tetraparesis, Axial hypotonia |
OMIM:617065 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Hypertonia, Neonatal hypotonia, Opisthotonus, Myoclonus, Spasticity, Spastic tetraplegia |
OMIM:615851 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Generalized hypotonia, Chorea,... |
OMIM:272750 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Dystonia, Choreoathetosis, Spasticity, Axial hypotonia |
OMIM:614249 |
| Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypotonia, Opisthotonus, Myoclonus, Hyperkinetic movements, Tremor, Choreoatheto... |
OMIM:616271 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval |
OMIM:619040 |
| Spinocerebellar Ataxia 47 |
|
Ataxia, Dysmetria, Generalized hypotonia, Chorea, Spasticity |
OMIM:617931 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Kinetic tremor, Inability to walk, Waddling gait, Macrotia |
OMIM:616269 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... |
OMIM:619092 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized hypotonia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremor, Impaired distal v... |
OMIM:208920 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
High palate, Recurrent hand flapping, Cleft palate, Attention deficit hyperactivity disorder, Low... |
OMIM:620021 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia, Axial hypotonia |
OMIM:612438 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Neonatal hypotonia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal... |
OMIM:245348 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia |
OMIM:128235 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Intention tremor, Truncal ataxia, Prominent antihelix, Macrotia, Dystonia, Atrioventricular block... |
OMIM:614407 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Sneddon Syndrome |
|
Tremor, Hemiparesis, Chorea |
ORPHA:820 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Infantile muscular hypotonia, Myoclonus, Rigidity, Progressive e... |
OMIM:612736 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomi... |
ORPHA:85451 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Rigidity, Myoclonic spasms, Frequent falls |
OMIM:184850 |
| Chiari Malformation Type Ii |
|
Ataxia, Generalized hypotonia, Opisthotonus, Hypotonia |
OMIM:207950 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Motor stereotypy, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity |
OMIM:619028 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Spastic tetraparesis, Hemiballismus, Chorea |
OMIM:618567 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokines... |
ORPHA:98755 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Hyperactivity, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
| Congenital Sialidosis Type 2 |
|
Low-set ears, Ataxia, Hepatomegaly, Dysmetria, Hepatosplenomegaly, Myoclonus, Optic atrophy, Hear... |
ORPHA:93400 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Generalized hypotonia, Athetosis, Tremor |
OMIM:617106 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy |
OMIM:613886 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Rigidity, Parkinsoni... |
OMIM:615528 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Postural tremor, Lower limb spas... |
ORPHA:100988 |
| Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... |
OMIM:300894 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Hypertonia, Neonatal hypotonia, Chorea, Spasticity, Spastic tetraplegia |
OMIM:617864 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity |
OMIM:308950 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Constipation, Gastroesophageal reflux, Progressive spasticity, Gait ataxia, Mac... |
DECIPHER:45 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... |
ORPHA:57777 |
| Adenylosuccinase Deficiency |
|
Opisthotonus, Myoclonus, Generalized hypotonia, Gait ataxia, Spasticity, Hypotonia |
OMIM:103050 |
| Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Generalized hypotonia, Hypotonia, Fasciculations |
OMIM:611721 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Hearing impairment, Ste... |
OMIM:609260 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Infantile muscular hypotonia, Spasticity |
ORPHA:500545 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... |
OMIM:614954 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
| Leukodystrophy, Hypomyelinating, 11 |
|
