Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616230 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Sei... |
OMIM:615362 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy, ... |
OMIM:618876 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure |
OMIM:616187 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dysto... |
OMIM:614860 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral ton... |
OMIM:162350 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebellar atrophy, Myoclonus, Seizure |
OMIM:600143 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Atrophy of the dentate nucleus... |
OMIM:125370 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, ... |
OMIM:616981 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Epileptic spasm, Atrophy/Degeneratio... |
OMIM:619971 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Seizure |
OMIM:612016 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Myoclonus, Hypoplasia of the pons, Agenesis of corpus callosum, Spasticity, Seizure, Dystonia |
OMIM:617669 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Cere... |
OMIM:619028 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy, Seizure |
OMIM:256731 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Parti... |
OMIM:604213 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
Creutzfeldt-Jakob Disease |
|
Abnormal cerebellum morphology, Extrapyramidal muscular rigidity, Myoclonus, Hemiparesis, Gait at... |
OMIM:123400 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar atrophy |
OMIM:619303 |
Lissencephaly 3 |
|
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissenceph... |
OMIM:611603 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Status epilepticus, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Abnorm... |
ORPHA:352596 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Cerebellar atroph... |
OMIM:617862 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Intention tremor, Hypergonadotropic hypogonadism, Myoclonus, Dysdiadochokinesi... |
ORPHA:251347 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... |
OMIM:619862 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Hypoplasia of the pons,... |
OMIM:618276 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty walking, Progressive spast... |
ORPHA:401820 |
Pontocerebellar Hypoplasia, Type 4 |
|
Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Myoclonus, Hypoplasia of the pons, C... |
OMIM:225753 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature ovarian insufficiency |
OMIM:615889 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Se... |
ORPHA:139485 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Failure to thrive, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Dys... |
OMIM:618356 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy, Seizure |
OMIM:141500 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Foxg1 Syndrome |
|
Motor stereotypy, Status epilepticus, Decreased body weight, Inability to walk, Myoclonus, Hyperk... |
ORPHA:561854 |
Peho-Like Syndrome |
|
Status epilepticus, Myoclonus, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Seizure, Pachyg... |
OMIM:617507 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus, Seizure, Olivopontocerebellar hypoplasia, Hypoplasia of the brainstem |
ORPHA:166063 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Atoni... |
ORPHA:2590 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... |
ORPHA:263516 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Phosphoserine Aminotransferase Deficiency |
|
Cerebellar vermis hypoplasia, Hypertonia, Myoclonus, Seizure |
OMIM:610992 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Cerebellar at... |
OMIM:254900 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus,... |
OMIM:614487 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Abnormal cerebellum morphology, Loss of ambulation, Myoclonus, Parkinsonism, Bilateral tonic-clon... |
OMIM:204200 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Perisylvian polymicrogyria, Focal hemiclonic seizure, Focal impaired awarenes... |
OMIM:619606 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... |
OMIM:618587 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Dystonia, Hypoplasia of the brainstem |
OMIM:619651 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure |
OMIM:208700 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... |
OMIM:183090 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... |
OMIM:224050 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Spastic paraparesis, Dysmetria, Generalized myoclonic seizure, Myoclonus, Dysdiadochokine... |
ORPHA:313772 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Generalized myoclonic seizure, Dysmetria, Rigidity, Gait disturbance, Tremor, ... |
OMIM:618090 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia |
OMIM:611092 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... |
OMIM:617282 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Seizure, Dysto... |
OMIM:614561 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Tremor, Myoclonic status epilepticus, Bila... |
OMIM:614018 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Myoclonus, Rigidity, Athetosis, Gait disturbance, Cerebellar atrophy, Seizure |
OMIM:618241 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypertonia, Ataxia, Failure to thrive, Myoclonus, Spasticity, Cerebellar atrophy, Seizure |
OMIM:618426 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Difficulty walkin... |
OMIM:500003 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Polymicrogyria, ... |
OMIM:614254 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dysmetria... |
ORPHA:284332 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Seizure, Dystonia |
OMIM:617829 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Gait imbalance, Abnormal cerebellum morphology, Bilateral tonic-clonic s... |
ORPHA:101070 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, Myoclonus, ... |
OMIM:619317 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... |
ORPHA:98762 |
Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 69 |
|
Status epilepticus, Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Dy... |
OMIM:618285 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Dysmetria, Myoclonus, Agenesis of corpus callosum, Seizure, Dystonia |
OMIM:250620 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea... |
ORPHA:71277 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Seizure, P... |
OMIM:606777 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... |
OMIM:608105 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Incoordination, Cerebellar hypoplasia, ... |
OMIM:618060 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure |
OMIM:545000 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy |
OMIM:607458 |
Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Parkinsonism, Fasciculations, C... |
ORPHA:98756 |
Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Clumsiness, Blepharospasm, Bilateral tonic-clonic seizure with generalized onset, General... |
ORPHA:352582 |
Epilepsy, Progressive Myoclonic, 9 |
|
Status epilepticus, Myoclonus, Gait ataxia, Seizure |
OMIM:616540 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Spinocerebellar Ataxia Type 36 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Limb ataxia, Dysmetria, Hand tremor, Int... |
ORPHA:276198 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... |
OMIM:204300 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... |
OMIM:210000 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... |
OMIM:616139 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Failure to thrive, Myoclonus, Unsteady gait, Seizure |
OMIM:610090 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, G... |
OMIM:617810 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Seizure, Dystonia |
OMIM:618497 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... |
OMIM:617145 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Failure to thrive in infancy, Bilateral tonic... |
OMIM:619065 |
Congenital Disorder Of Glycosylation, Type In |
|
Failure to thrive, Ataxia, Myoclonus, Spasticity, Seizure |
OMIM:612015 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral ... |
OMIM:618093 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait |
OMIM:618387 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Di... |
OMIM:616505 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walk... |
OMIM:159950 |
Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Failure to thrive, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Te... |
ORPHA:225154 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Seizure, Spastic tetraparesis |
OMIM:617065 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Myoclonus, Epileptic spasm, Lateral ventricle dilatation, Cerebellar vermis hypoplasi... |
ORPHA:284417 |
Neuroferritinopathy |
|
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Iron accumulation in substantia nigra,... |
ORPHA:157846 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Slender build, Hypertonia, Myoclonus, Seizure, Limb tremor, Focal tonic seizure |
OMIM:300699 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus, Seizure |
OMIM:204500 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:261630 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Abnormal cerebellum morphology, Acroparesthesia, Limb myoclonus, Gait ataxia, Paresthesia, Dysest... |
ORPHA:356 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... |
ORPHA:420492 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Chorea, Generalize... |
ORPHA:178469 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Huntington Disease |
|
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... |
ORPHA:399 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Atonic seizure, Inability to walk, Focal impaired awareness seizure, Generalize... |
ORPHA:411986 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Glycine Encephalopathy |
|
Myoclonus, Agenesis of corpus callosum, Seizure |
OMIM:605899 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Generalized myoclonic seizure, Hand apraxia, Pill-rolling ... |
ORPHA:3095 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Atrophy/Degeneration affecting the brainstem, Myoclonus, Cerebellar atrophy, Seizure |
OMIM:614946 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Seizure |
ORPHA:391417 |
Hemimegalencephaly |
|
Status epilepticus, Focal motor seizure, Atonic seizure, Gray matter heterotopia, Myoclonus, Hemi... |
ORPHA:99802 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations, Generalized clonic seizure |
OMIM:611721 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Oculogyric crisis, Babinski sign, Parkinsonism, Rigidity, Myoclonus, Gait a... |
ORPHA:101150 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure |
OMIM:619191 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... |
OMIM:616127 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Abnormal cerebellum morphology, Progressive cerebellar ataxia, Abnormal pons morphology, ... |
ORPHA:98 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Atonic seizure, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Ba... |
ORPHA:93952 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure |
ORPHA:86814 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Failure to thrive, Myoclonus, Choreoathetosis, Bilateral tonic-clonic seizure |
OMIM:609056 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:79279 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... |
OMIM:617836 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizur... |
ORPHA:208447 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Small for gestational age, Increased body mass index, Hyperkineti... |
OMIM:300957 |
Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Aplasia of the infe... |
OMIM:610185 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Decreased body weight, Myoclonus, Epileptic spasm, Cerebellar atrophy |
OMIM:619060 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Abnormal cerebellar vermis morphology, Rigidity, Cerebellar hypoplasia, Tremo... |
ORPHA:33445 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Infertility, Ataxia, Impaired vibration sensation at ankles, Reduced sperm moti... |
ORPHA:320391 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Small for gestational age, Myoclonus, Dilated fourth ventricle, Cerebellar hypoplasia... |
ORPHA:3078 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Myoclonus, Babinski sign, T2 hypointense thalamus, Gait disturbance, Seizure, Apraxia |
OMIM:618193 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor, Seizure |
OMIM:618075 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Typical absence seizure, Ataxia, Cortical myoclonus, Atonic seizure, Inability ... |
ORPHA:168491 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, Myoclonus, Truncal ataxia, Febrile sei... |
OMIM:613855 |
Developmental And Epileptic Encephalopathy 16 |
|
Status epilepticus, Abnormality of extrapyramidal motor function, Myoclonus, Hemiparesis, Dystonia |
OMIM:615338 |
Developmental And Epileptic Encephalopathy 49 |
|
Myoclonus, Spasticity, Dandy-Walker malformation, Seizure |
OMIM:617281 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... |
OMIM:617225 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar a... |
OMIM:617435 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Difficulty walking, Ga... |
ORPHA:98768 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus, Seizure, Clonus |
OMIM:617290 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Myoclonus, Dysmetria, Seizure |
OMIM:618251 |
4H Leukodystrophy |
|
Ataxia, Decreased response to growth hormone stimulation test, Dysmetria, Hypogonadotropic hypogo... |
ORPHA:289494 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:306511 |
Cog8-Cdg |
|
Failure to thrive, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar at... |
ORPHA:95428 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Myoc... |
OMIM:619092 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... |
ORPHA:306 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis, Hyperkinetic... |
ORPHA:457240 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Clonic seizure, Inability to walk, Tonic seizure, Stereotypical hand wringing, ... |
OMIM:618917 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Focal T2 hyperintense thalamic lesion, Loss of ambulation, Clumsiness, Poor fin... |
ORPHA:79264 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizure, Generalized non-motor (abse... |
ORPHA:139426 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Focal tonic seizure, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus, ... |
ORPHA:485350 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... |
ORPHA:13 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Spasticity, Myoclonus, Seizure |
OMIM:256730 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:139406 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Bil... |
ORPHA:726 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Seizure, Dystonia |
OMIM:612438 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Pachygyria, Hypoplasia of the pons, Oromotor... |
ORPHA:300573 |
Early Myoclonic Encephalopathy |
|
Focal motor seizure, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Focal seizure wi... |
ORPHA:1935 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Abnormal cerebellum morphology, Clumsiness, Progressive cerebellar ataxia, Poor fine ... |
ORPHA:137898 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypertonia, Ataxia, Cryptorchidism, Opisthotonus, Micropenis, Myoclonus, Hypoplasia of the pons, ... |
OMIM:614969 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure |
OMIM:619561 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Myoclonus, Rigidity, Parkinsonism, Weakness due to upper motor neuro... |
ORPHA:97355 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... |
ORPHA:254343 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Myoclonus, Hypoplasia of the pons, Agenesis of corpus callosum, Epileptic spasm, Partial agenesis... |
ORPHA:500144 |
Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... |
ORPHA:228360 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Tay-Sachs Disease |
|
Typical absence seizure, Inability to walk, Laryngeal dystonia, Focal impaired awareness seizure,... |
ORPHA:845 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Iron accumulation in substantia nigra, Spastic paraparesis, Rigidity, Parkinsonism,... |
ORPHA:329284 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Loss of ambulation, Dysmetria, Hypogonadotropic hypogonadism, Babinski sign, Tremor, Spas... |
OMIM:607694 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Abnormal pons morphology, Acroparesthesia, Hoff... |
ORPHA:206448 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Tr... |
OMIM:164500 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Foca... |
OMIM:117360 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II... |
OMIM:613153 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Dysmetria, Myoclonus, Abnormal pyramidal sign, Involuntary movements, Cerebellar atrophy |
OMIM:619780 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Hereditary Geniospasm |
|
Chin myoclonus |
ORPHA:53372 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Status epilepticus, Failure to thrive, Opisthotonus, Myoclonus, Cerebellar hypoplasia, Chorea, Te... |
OMIM:616672 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity, Small for gestational age |
OMIM:619057 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Myoclonus, Tremor, Hypogonadism, Seizure |
ORPHA:97229 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Impaired proprioception, Progres... |
ORPHA:98755 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Status epilepticus, Dysmetria, Cerebellar hypoplasia, Tremor, Difficulty walking, Gait ataxia, Bi... |
ORPHA:529665 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Failure to thrive, Cerebellar hypoplasia, Spasticity, Seizure, Simplified gyral pattern, Microlis... |
OMIM:617090 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
Developmental And Epileptic Encephalopathy 1 |
|
Hypertonia, Erratic myoclonus, Focal motor seizure, Generalized myoclonic seizure, Micropenis, To... |
OMIM:308350 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... |
ORPHA:401866 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, P... |
ORPHA:98759 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Seizure, Obesity |
OMIM:614947 |
Pontocerebellar Hypoplasia, Type 2E |
|
Hypertonia, Failure to thrive, Bilateral tonic-clonic seizure with generalized onset, Opisthotonu... |
OMIM:615851 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Generalized myoclonic seizure, Hyperkinetic movements, Bilateral toni... |
OMIM:271980 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Status epilepticus, Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Tremor, Diff... |
ORPHA:442835 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Cerebellar hypoplasia, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... |
ORPHA:101 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 ... |
ORPHA:86909 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Clumsiness, Focal hemiclo... |
ORPHA:725 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Olivopon... |
OMIM:615157 |
Cach Syndrome |
|
Abnormal pons morphology, Cerebellar vermis atrophy, Dysgyria, Dysmetria, Limb ataxia, Spastic di... |
ORPHA:135 |
Benign Familial Neonatal Epilepsy |
|
Status epilepticus, Generalized tonic seizure, Focal clonic seizure, Limb myoclonus, Simple febri... |
ORPHA:1949 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Acroparesthesia, Focal aware seizure, Limb myoclonus, Polymicrogyria, Pa... |
ORPHA:101030 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Status epilepticus, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia... |
ORPHA:363400 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Ankle clonus, Truncal at... |
ORPHA:284289 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Status epilepticus, Clonic seizure, Intention tremor, Myoclonus, Bilateral tonic-clonic seizure w... |
OMIM:610539 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... |
OMIM:302800 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Status epilepticus, Ataxia, Loss of ambulation, Hypergonadotropic hypogonadism, Myoclonus, Right ... |
OMIM:607426 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Tremor, Gait ataxia, Spas... |
ORPHA:1170 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive, Seizure |
OMIM:618951 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Hypertonia, Small for gestational age, Generalized tonic seizure, Myoclonus, Epileptic spasm, Ste... |
ORPHA:289266 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... |
ORPHA:370022 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Peho Syndrome |
|
Myoclonus, Polymicrogyria, Cerebellar atrophy, Seizure, Pachygyria |
OMIM:260565 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... |
ORPHA:363654 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Decreased body weight, Abnormal pyramidal sign, Polymicrogyria, Lisse... |
OMIM:614833 |
Myoclonus, Intractable, Neonatal |
|
Myoclonus, Seizure, Chorea, Athetosis |
OMIM:617235 |
Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Myoclonus, Abnormal mitochondrial shape, Gait disturbance, Cerebellar atr... |
ORPHA:412217 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Myoclonus, Babinski sign, Truncal ataxia, Spasticity, Seizure, Dystonia |
OMIM:252011 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hemiparesis, Fusion of the left and right thalami, Midline brainstem clef... |
OMIM:617542 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonus, Seizure |
OMIM:618225 |
Joubert Syndrome 32 |
|
Ataxia, Abnormal cerebellum morphology, Polymicrogyria, Large for gestational age, Oculomotor apr... |
OMIM:617757 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Failure to thrive, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Tremor, Seizure |
OMIM:619556 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Status epilepticus, Hypertonia, Opisthotonus, Micropenis, Small for gestational age, Cerebral pal... |
OMIM:619847 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Gonadal dysgenesis |
OMIM:615041 |
Spinocerebellar Ataxia Type 10 |
|
Status epilepticus, Focal motor seizure, Gait imbalance, Progressive cerebellar ataxia, Focal imp... |
ORPHA:98761 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal cerebellar cortex morphology, Impaired vibratory sensation, Myoclonus, Positive Romberg ... |
ORPHA:70595 |
Thyrocerebrorenal Syndrome |
|
Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech, Seizure |
ORPHA:3327 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Hypergonadotr... |
OMIM:619737 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia |
OMIM:600795 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... |
OMIM:619738 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Myoclonus, Spasticity, Seizure, Abnormality of extrapyramidal motor function |
OMIM:614299 |
Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... |
OMIM:208920 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Status epilepticus, Pain insensitivity, Micropenis, Myoclonus, Babinski sign, Cere... |
ORPHA:364028 |
Early Infantile Epileptic Encephalopathy |
|
Failure to thrive, Precocious puberty, Atonic seizure, Micropenis, Generalized tonic seizure, Pac... |
ORPHA:1934 |
Spinocerebellar Ataxia Type 42 |
|
Abnormal cerebellum morphology, Cerebellar vermis atrophy, Impaired vibration sensation at ankles... |
ORPHA:458803 |
Adenylosuccinase Deficiency |
|
Inability to walk, Opisthotonus, Myoclonus, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure |
OMIM:103050 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
Galloway-Mowat Syndrome 10 |
|
Simplified gyral pattern, Myoclonus, Cerebellar atrophy |
OMIM:619609 |
Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... |
OMIM:300623 |
Gaucher Disease, Type Iii |
|
Ataxia, Decreased body weight, Generalized myoclonic seizure, Spastic paraparesis, Myoclonus |
OMIM:231000 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity |
OMIM:278780 |
Hyperekplexia 4 |
|
Hypertonia, Myoclonus, Seizure |
OMIM:618011 |
Dystonia 34, Myoclonic |
|
Torticollis, Hand tremor, Myoclonus, Head tremor, Writer's cramp, Impaired tandem gait, Dystonia |
OMIM:619724 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Cerebellar vermis atrophy, Micropenis, Hypospadias, Polymicrogyria, Tremor, Ga... |
OMIM:300354 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Opisthotonus,... |
OMIM:619913 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... |
ORPHA:36387 |
D-Glyceric Aciduria |
|
Status epilepticus, Failure to thrive, Opisthotonus, Micropenis, Focal clonic seizure, Myoclonus,... |
OMIM:220120 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Tremor, Seizure, Spastic tetraparesis, Simplified gyral pattern |
OMIM:619470 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Hypogonadotropic hypogonadism, Dy... |
OMIM:614381 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... |
OMIM:133190 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
Pyridoxal Phosphate-Responsive Seizures |
|
Status epilepticus, Hypertonia, Failure to thrive, Myoclonus, Unsteady gait, Seizure |
ORPHA:79096 |
Spinocerebellar Ataxia 32 |
|
Infertility, Ataxia, Testicular atrophy, Cerebellar atrophy, Azoospermia |
OMIM:613909 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Failure to thrive, Ataxia, Cerebellar vermis atrophy, Inability to walk, Intent... |
OMIM:312080 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia |
ORPHA:276183 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Multifocal seizures, Generalized myoclonic seizure, Babinski sign, Rigidity, Myocloni... |
OMIM:614498 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hypospadias, Dilated fourth ventricle, Dysgenesis of the cerebellar vermis, Cer... |
OMIM:617751 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... |
ORPHA:307 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Status epilepticus, Ataxia, Intention tremor, Hypergonadotropic hypogonadism, Hemiparesis, Tremor... |
OMIM:614307 |
Brain-Lung-Thyroid Syndrome |
|
Failure to thrive, Ataxia, Clumsiness, Intention tremor, Hypospadias, Myoclonus, Agenesis of corp... |
ORPHA:209905 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Dysmetria, Hoffmann sign, Ankle clonus, Abnormal brainstem white matte... |
ORPHA:139396 |
Japanese Encephalitis |
|
Status epilepticus, Hypertonia, Abnormal pons morphology, Focal motor seizure, Focal T2 hyperinte... |
ORPHA:79139 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Opisthotonus, Myoclonus, Hyperkinetic movements, Tremor, Choreoathetosis, Spasticity, Cer... |
OMIM:616271 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Precocious puberty, Rhombencephalosynapsis, Hypoplasia of the pons, A... |
ORPHA:280195 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... |
ORPHA:445038 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertonia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Tremor, Photosensitive myoclo... |
ORPHA:1192 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Head titubation, Spastic parapl... |
OMIM:615491 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Babinski sign, Spasticity, Upper motor neuron dysfunc... |
ORPHA:204 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Myoclonus, Babinski sign, Gait disturbance, Spasticity, Seizure, Apraxia |
OMIM:221770 |
Optic Atrophy 11 |
|
Ataxia, Hyperkinetic movements, Cerebellar hypoplasia, Dysmetria |
OMIM:617302 |
Myopathy With Extrapyramidal Signs |
|
Status epilepticus, Perisylvian polymicrogyria, Ataxia, Clumsiness, Chorea, Frequent falls, Tremo... |
OMIM:615673 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... |
ORPHA:98773 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Cerebellar hypoplasia, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:619422 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
Narp Syndrome |
|
Ataxia, Babinski sign, Myoclonic spasms, Progressive gait ataxia, Seizure |
ORPHA:644 |
Spinocerebellar Ataxia Type 8 |
|
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Impotence, Limb ataxia, Impaired vibratory sensa... |
ORPHA:98760 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... |
ORPHA:139431 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp... |
ORPHA:466722 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Slender build, Recurrent hand flapping, Focal impaired awareness seizure, Myocl... |
OMIM:617600 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Myoclonus, Seizure |
OMIM:274240 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... |
OMIM:619911 |
Joubert Syndrome With Renal Defect |
|
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Seizure, Oculomot... |
ORPHA:220497 |
Joubert Syndrome 30 |
|
Superior cerebellar dysplasia, Gray matter heterotopia, Cerebellar atrophy, Seizure, Molar tooth ... |
OMIM:617622 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ataxia, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Impaired vibratory sensation, Ankl... |
ORPHA:88644 |
Slc35A2-Cdg |
|
Precocious puberty, Inability to walk, Infantile spasms, Atrophy/Degeneration affecting the brain... |
ORPHA:356961 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... |
OMIM:616531 |
Meckel Syndrome 13 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Ataxia, Cerebellar vermis hypoplasia, Oculomotor apraxia,... |
OMIM:609583 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Febrile seizure (... |
ORPHA:477673 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Failure to thrive, Myoclonus, Rigidity, Polymicrogyria, Seizure |
OMIM:300673 |
Migraine, Familial Hemiplegic, 2 |
|
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Bilateral tonic-clo... |
OMIM:602481 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Myoclonus, Spastic tetraplegia, Seizure |
OMIM:614462 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Failure to thrive, Cerebellar vermis atrophy, Inability to walk, Substantia nig... |
OMIM:617988 |
Spinocerebellar Ataxia 36 |
|
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Cere... |
OMIM:614153 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Status epilepticus, Hypertonia, Ataxia, Failure to thrive, Myoclonus, Epilepsia partialis continu... |
OMIM:203700 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure, Dystonia |
OMIM:617493 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Multifocal seizures, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Lat... |
ORPHA:572798 |
Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar atrophy, I... |
OMIM:608768 |
Hereditary Hyperekplexia |
|
Hypertonia, Ataxia, Myoclonus, Rigidity, Gait disturbance, Spasticity, Seizure, Fasciculations |
ORPHA:3197 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Impotence, Babinski sign, Aplasia/Hypoplasia of the cerebellum, Tremor, Impaired distal v... |
ORPHA:99027 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Abnormal cerebellum morphology, Truncal titubation, Dysmetria, Tremor, Gait ataxia, C... |
OMIM:618056 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Micropenis, Hypospadias, Oligospermia, Dysgenesis of th... |
ORPHA:8 |
Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Abnormality of extrapyramidal motor function, Distal sensory impairment, Seizure |
OMIM:604218 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Status epilepticus, Ataxia, Decreased body weight, Inability to walk, Generaliz... |
OMIM:619229 |
Machado-Joseph Disease |
|
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, A... |
OMIM:109150 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Angelman Syndrome |
|
Status epilepticus, Atypical absence seizure, Ataxia, Precocious puberty in females, Recurrent ha... |
ORPHA:72 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Failure to thrive, Inability to walk, Hyperkinetic movements, Athetosis, Spasticity, Loss of abil... |
OMIM:612073 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure |
OMIM:607876 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal cord paresis, Impaired pain... |
OMIM:619574 |
Abeta Amyloidosis, Iowa Type |
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Gait disturbance, Myoclonus |
ORPHA:324708 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Ataxia, Recurrent hand flapping, Poor coordination, Hypospadias, Gait disturbance, Tremor, Genera... |
ORPHA:544254 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, T... |
ORPHA:98794 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
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Broad-based gait, Myoclonus, Inability to walk, Seizure |
OMIM:616158 |
Coach Syndrome 2 |
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Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus cal... |
OMIM:619111 |
Congenital Disorder Of Glycosylation, Type Ie |
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Failure to thrive, Ataxia, Pontocerebellar atrophy, Tremor, Patent ductus arteriosus, Seizure |
OMIM:608799 |
Sialidosis Type 1 |
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Ataxia, Myoclonus, Gait disturbance, Tremor, Seizure, Slurred speech |
ORPHA:812 |
Joubert Syndrome With Ocular Defect |
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Ataxia, Polymicrogyria, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Seizure, Oculomot... |
ORPHA:220493 |
Dopa-Responsive Dystonia |
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Leg dystonia, Inability to walk, Poor coordination, Generalized tonic seizure, Abnormality of ext... |
ORPHA:255 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Ataxia-Telangiectasia |
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Failure to thrive, Ataxia, Inability to walk, Progressive cerebellar ataxia, Intention tremor, My... |
OMIM:208900 |
Alzheimer Disease 3 |
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Abnormality of extrapyramidal motor function, Myoclonus, Babinski sign, Apraxia, Gait disturbance... |
OMIM:607822 |
Parkinsonian-Pyramidal Syndrome |
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Bradykinesia, Intention tremor, Myoclonus, Abnormal pyramidal sign, Babinski sign, Parkinsonism, ... |
ORPHA:171695 |
Developmental And Epileptic Encephalopathy 68 |
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Status epilepticus, Failure to thrive, Exaggerated startle response, Myoclonus, Spasticity, Clonus |
OMIM:618201 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Motor stereotypy, Hypospadias, Cerebellar hypoplasia, Polymicrogyria, Patent ductus arteriosus, C... |
ORPHA:500159 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Seizure, Obesity, Lower l... |
ORPHA:3077 |
Posttransplant Acute Limbic Encephalitis |
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