Epilepsy, Benign Occipital |
|
EEG abnormality, Seizure |
OMIM:132090 |
Epilepsy, Reading |
|
EEG abnormality, Seizure |
OMIM:132300 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... |
OMIM:601068 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enha... |
OMIM:615127 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... |
OMIM:619964 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
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Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal impaired awareness seizure, Focal aware seizure, EEG with spike-wave complexes, Visually-in... |
OMIM:614417 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... |
OMIM:617831 |
Continuous Spikes And Waves During Sleep |
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Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Seizure, Hypertonia |
OMIM:614023 |
Spastic Ataxia With Congenital Miosis |
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Ataxia, Hemiplegia/hemiparesis, Spastic ataxia, Seizure |
ORPHA:1182 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, E... |
OMIM:609446 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, S... |
OMIM:245570 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Continuous spike and waves during slow sleep, EEG with focal sharp waves, Bilateral tonic-clonic ... |
ORPHA:163721 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, EEG with genera... |
OMIM:615369 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... |
OMIM:618587 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, EEG with centrotemporal foca... |
OMIM:117100 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:613721 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Short stature, Rigidity, Tr... |
OMIM:617836 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... |
ORPHA:306 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Seizure |
OMIM:617643 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... |
OMIM:254800 |
Nodular Neuronal Heterotopia |
|
EEG abnormality, Seizure |
ORPHA:2149 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia |
OMIM:611092 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... |
OMIM:616341 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abno... |
OMIM:162350 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
Perioral Myoclonia With Absences |
|
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Chorea, Bilateral tonic-clonic s... |
OMIM:616139 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... |
OMIM:607682 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, ... |
OMIM:608105 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality, Clumsiness |
OMIM:610003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Autosomal Dominant Epilepsy With Auditory Features |
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Focal aware seizure, Interictal epileptiform activity, EEG with focal epileptiform discharges, Bi... |
ORPHA:101046 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Dyst... |
OMIM:104290 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... |
ORPHA:79137 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, T... |
OMIM:614018 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... |
OMIM:616409 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... |
OMIM:613855 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Short stature |
OMIM:619639 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:607681 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Clonic seizure, Generalized myoclonic seizure, EEG with burst suppression, Bi... |
OMIM:266100 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... |
OMIM:618924 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Familial Focal Epilepsy With Variable Foci |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... |
ORPHA:98820 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... |
ORPHA:2382 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Dystonia, Abnormality o... |
OMIM:614561 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... |
ORPHA:36387 |
Benign Adult Familial Myoclonic Epilepsy |
|
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure |
ORPHA:86814 |
Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Hemipare... |
ORPHA:101071 |
Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... |
OMIM:614558 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexe... |
ORPHA:86909 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure |
OMIM:619561 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, EEG abnormality, Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Landau-Kleffner Syndrome |
|
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... |
ORPHA:98818 |
Epilepsy, Progressive Myoclonic, 8 |
|
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Bila... |
OMIM:616230 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes ... |
OMIM:619317 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia, Seizure |
OMIM:616366 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Seizure |
OMIM:619061 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... |
OMIM:204300 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... |
OMIM:615871 |
Epilepsy, Progressive Myoclonic, 1B |
|
Atonic seizure, Dysmetria, Generalized myoclonic seizure, Babinski sign, Tremor |
OMIM:612437 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Bilateral tonic-clonic seizure, Par... |
ORPHA:53583 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Abnormal... |
ORPHA:382 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, EEG abnormality, Generalized myoclonic seizure, Retinal dystrophy, Optic atrophy, Seizure |
OMIM:614706 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Interictal epileptiform activity, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized ... |
OMIM:619157 |
Seizures, Benign Familial Infantile, 1 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Normal interic... |
OMIM:601764 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Cogwheel rigidity,... |
OMIM:616981 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... |
ORPHA:139431 |
Carnosinase Deficiency |
|
EEG abnormality, Generalized myoclonic seizure |
ORPHA:1361 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... |
OMIM:619000 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Ataxia, Bilateral tonic-clonic seizure |
OMIM:617709 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Seizure |
OMIM:616187 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616172 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis |
OMIM:300388 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Seizure |
OMIM:616921 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure |
OMIM:208700 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure, Short stature |
OMIM:608278 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... |
OMIM:614322 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
EEG abnormality, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Bilateral tonic-clonic sei... |
OMIM:617810 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... |
ORPHA:65683 |
Lissencephaly 10 |
|
Torticollis, Atypical absence seizure, Atonic seizure, EEG abnormality, Focal impaired awareness ... |
OMIM:618873 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Delayed mena... |
ORPHA:330050 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Pyridoxine-Dependent Epilepsy |
|
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... |
ORPHA:3006 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure... |
OMIM:619065 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia, Seizure |
ORPHA:85338 |
Developmental And Epileptic Encephalopathy 34 |
|
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Ab... |
OMIM:616645 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Seizure |
OMIM:601780 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... |
OMIM:607745 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Status epilepticus, EEG abnormality, Focal impaired awareness seizure, Chorea, Bilateral tonic-cl... |
OMIM:613970 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Convulsive status epilepticus, Stereotypical hand wringing, Chorea, Focal-onset ... |
OMIM:618760 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:605021 |
Unilateral Focal Polymicrogyria |
|
Focal motor seizure, EEG with frontal focal spikes, Focal impaired awareness seizure, EEG with pa... |
ORPHA:268947 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, EEG with focal epileptiform discharges, Myoclonus, Limb myoclonus,... |
ORPHA:263516 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:139406 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Bilateral tonic-clonic seizur... |
OMIM:300423 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... |
OMIM:619913 |
Developmental And Epileptic Encephalopathy 4 |
|
Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, EE... |
OMIM:612164 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... |
OMIM:608096 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Clumsiness, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Bilateral ... |
OMIM:619911 |
Developmental And Epileptic Encephalopathy 98 |
|
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, E... |
OMIM:619605 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Ataxia, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... |
ORPHA:308 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Clonic seizure, Tonic seizure, Stereotypical hand wringing, Chorea, Febrile sei... |
OMIM:618917 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Postural tremor, Lower limb sp... |
ORPHA:100988 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Seizure |
OMIM:618876 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... |
OMIM:615697 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... |
OMIM:121200 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Generalized tonic seizure, Short stature, Myoclonus, Epileptic spasm, Stereotypical h... |
ORPHA:289266 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
Developmental And Epileptic Encephalopathy 56 |
|
Status epilepticus, Focal motor seizure, Ataxia, EEG abnormality, Action tremor, EEG with polyspi... |
OMIM:617665 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... |
ORPHA:726 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Status epilepticus, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, Bilateral ton... |
OMIM:619701 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Bilateral tonic-clonic seizure, Dysmetria, Ataxia |
OMIM:619191 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Limb ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Short stature, Tremor, Seizure |
OMIM:617862 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Developmental And Epileptic Encephalopathy 106 |
|
Tonic seizure, Focal clonic seizure, Limb hypertonia, Infantile spasms, Bilateral tonic-clonic se... |
OMIM:620028 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic tetraple... |
OMIM:619301 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... |
OMIM:619606 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, EEG with focal spike w... |
ORPHA:352582 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:601217 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal impaired awareness seizure, Ankle clonus, Limb hypertonia, Babinski sign, EEG with burst su... |
OMIM:301058 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Spasticity, Seizure |
ORPHA:101685 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Focal-onset seizure, Growth delay |
OMIM:614483 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic seizure, G... |
OMIM:618093 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure |
OMIM:141500 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Choreoathetosis, Multifocal epilep... |
OMIM:609056 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... |
OMIM:617935 |
Bilateral Generalized Polymicrogyria |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... |
ORPHA:208447 |
New-Onset Refractory Status Epilepticus |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Multifocal epile... |
ORPHA:363558 |
Infantile Convulsions And Choreoathetosis |
|
Focal impaired awareness seizure, Experiential epileptic aura, Chorea, Complex febrile seizure, A... |
ORPHA:31709 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Spastic... |
ORPHA:208441 |
Rasmussen Subacute Encephalitis |
|
Focal impaired awareness seizure, Interictal epileptiform activity, EEG with focal spikes, Focal ... |
ORPHA:1929 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... |
ORPHA:363549 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 19 |
|
EEG with photoparoxysmal response, Status epilepticus, Atonic seizure, Focal hemiclonic seizure, ... |
OMIM:615744 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... |
ORPHA:178469 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic... |
OMIM:619616 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizur... |
OMIM:618856 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... |
ORPHA:79262 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Spastic tetraple... |
OMIM:619302 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, EEG abnormality, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus... |
ORPHA:313772 |
Foxg1 Syndrome |
|
Status epilepticus, Motor stereotypy, Short stature, Severe postnatal growth retardation, Myoclon... |
ORPHA:561854 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Hyperkinetic movement... |
OMIM:271980 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Atypical absence seizure, Ataxia, Focal impaired awareness seizure, Tonic seizu... |
OMIM:619428 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Status epilepticus, EEG abnormality, Dysmetria, Tremor, Bilateral tonic-clonic seizure, Gait atax... |
ORPHA:529665 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... |
ORPHA:307 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus,... |
OMIM:614487 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia |
OMIM:615924 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei... |
OMIM:618770 |
Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Spastic paraparesis, Complex febrile seizure, Bilateral tonic-clonic seizure... |
OMIM:619338 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
Hemimegalencephaly |
|
EEG with focal spikes, Status epilepticus, Focal motor seizure, Atonic seizure, EEG with polyspik... |
ORPHA:99802 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Ataxia, Spasticity, Seizure |
OMIM:300067 |
Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, EEG abnormality, Athetosis, Tremor, Seizure |
OMIM:617106 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Clumsiness, Focal impaired awareness seizure, Generalized myoclonic seizure, EEG with gen... |
ORPHA:1947 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure |
OMIM:125370 |
Oxoglutarate Dehydrogenase Deficiency |
|
Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia |
OMIM:203740 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Infantile spasms, Tremor, Spasticity, Growth delay |
OMIM:278780 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Gait ataxia, Limb ataxia, Seizure |
ORPHA:404499 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
EEG with focal spikes, Bilateral tonic-clonic seizure, Gait ataxia, Seizure, Growth delay, Intrau... |
ORPHA:488635 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Short stature, Myoclonus, Seizure, Limb tremor, Focal tonic seizure, Interictal epile... |
OMIM:300699 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Retinal degeneration, Dysmetria, M... |
OMIM:256731 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity, Seizure |
OMIM:600363 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... |
ORPHA:2590 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Atonic se... |
ORPHA:168491 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Developmental And Epileptic Encephalopathy 52 |
|
Atypical absence seizure, Focal hemiclonic seizure, Limb ataxia, Generalized myoclonic seizure, A... |
OMIM:617350 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
EEG with focal spikes, Paroxysmal dystonia, Motor stereotypy, Increased theta frequency activity ... |
ORPHA:98784 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Short stature, Myoclonus, C... |
OMIM:617284 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure |
OMIM:612016 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Myoclonus, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abnormality of extrapyramidal m... |
OMIM:204200 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Generalized myoclonic seizure, Rigidity, Tremor, Seizure |
OMIM:618090 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:261630 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Growth delay, Ataxia, Tremor, Choreoathetosis, Spasticity, Seizure, Oculomotor apraxia, Dystonia |
OMIM:612716 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, EEG abnormality, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:612126 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... |
ORPHA:98811 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Focal impaired awareness seizure, Stereotypical hand wringing, Bilateral tonic-clonic... |
OMIM:619854 |
Developmental And Epileptic Encephalopathy 79 |
|
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Migrati... |
OMIM:618559 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Ataxia, Short stature |
OMIM:616113 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, EEG with continuous slow activity, Bilateral tonic-clonic seizure, Fasciculatio... |
ORPHA:275864 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ataxia, Dysmetria, Intention tremor, Babinski sign, Bilateral tonic-clonic seizure, Generalized n... |
OMIM:618170 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Progressive cerebellar ataxia, Focal impaired awareness seizure, Myoclonus... |
ORPHA:485350 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:615942 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Dystonia, Bilateral tonic-clonic seizure, Intrauterine growth retardation, Spastic tetraplegia |
OMIM:618237 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia, Seizure |
OMIM:618730 |
X-Linked Intellectual Disability, Hedera Type |
|
Atonic seizure, Action tremor, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Freque... |
ORPHA:93952 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Generalized myoclonic seizure, Short stature, Bilateral tonic-clonic seizure, Focal myocl... |
ORPHA:464282 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ataxia, Inability to walk, Short stature, Unsteady gait, Seizure, Oculomotor apraxia |
OMIM:618273 |
Severe Canavan Disease |
|
Decerebrate rigidity, Babinski sign, Bilateral tonic-clonic seizure, Spasticity, Seizure |
ORPHA:314911 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Short stature, Rigidity, Tremor, Choreoathetosis, Spasticity, Seizure, Dystonia |
OMIM:612438 |
Rolandic Epilepsy |
|
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... |
ORPHA:1945 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Status epilepticus, Clonic seizure, Intention tremor, Myoclonus, Bilateral tonic-clonic seizure w... |
OMIM:610539 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Hypocalcemia, Autosomal Dominant 2 |
|
Paresthesia, Postnatal growth retardation |
OMIM:615361 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... |
ORPHA:79263 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Short stature, Abnormal pyramidal sign, Tremor, Seizure, Incoordination |
OMIM:614947 |
Developmental And Epileptic Encephalopathy 102 |
|
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... |
OMIM:619881 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Hypertonia, Bilateral tonic-clonic seizure, Spasticity, Generalized non-motor (absence) seizure, ... |
OMIM:616281 |
Developmental And Epileptic Encephalopathy 47 |
|
Status epilepticus, EEG abnormality, Inability to walk, Limb ataxia, Gait disturbance, Optic disc... |
OMIM:617166 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Dk1-Cdg |
|
Short stature, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Multifo... |
ORPHA:91131 |
Developmental And Epileptic Encephalopathy 61 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spasticity, Seizure |
OMIM:617933 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Febrile seizure (within the age range of 3 months to 6 years), Progressive cerebellar ataxia |
OMIM:618412 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Parkinsonism, Ri... |
OMIM:300894 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus, Fasciculations, Frequent falls, Tremor, Generalized-ons... |
OMIM:159950 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure,... |
OMIM:619877 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Dysmetria, Myoclonus, Tremor, Lowe... |
OMIM:619028 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:614559 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
Sulfite Oxidase Deficiency, Isolated |
|
Hemiplegia, Hypertonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Multifocal epile... |
OMIM:272300 |
Atypical Rett Syndrome |
|
EEG abnormality, Generalized myoclonic seizure, Hand apraxia, Pill-rolling tremor, Infantile spas... |
ORPHA:3095 |
Cln5 Disease |
|
EEG with focal spikes, Ataxia, Poor gross motor coordination, Clumsiness, EEG with spike-wave com... |
ORPHA:228360 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Status epilepticus, Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Focal-onset seizur... |
OMIM:614307 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, EEG abnormality, Focal impaired awareness seizure, Limb hypertonia, EEG with genera... |
ORPHA:488613 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Myoclonus, Cerebral ... |
OMIM:617600 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Seizure |
OMIM:618951 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, EEG with generalized epileptiform discharges, Bilateral tonic-clonic seizure, Gener... |
OMIM:619827 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... |
ORPHA:454887 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:261640 |
Parkinson Disease 19A, Juvenile-Onset |
|
Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Rigidi... |
OMIM:615528 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Seizure |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Focal impaired awareness seizure, Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizur... |
OMIM:619983 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... |
ORPHA:98795 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Canavan Disease |
|
Opisthotonus, Abnormal pyramidal sign, Epileptic spasm, Bilateral tonic-clonic seizure, Hypsarrhy... |
OMIM:271900 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Tremor, Choreoathetosis, Seizure, Postnatal gro... |
ORPHA:391417 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis |
ORPHA:3129 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure, Dystonia |
ORPHA:139485 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Growth delay, Focal impaired awareness seizure, Tip-toe gait, Dysmetria, Hemiparesis, Spasticity,... |
OMIM:251950 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Short stature, Tremor |
ORPHA:1368 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Short stature, Hyperkinetic movements, Tremor, Bilateral tonic-clonic seizure, ... |
ORPHA:457240 |
D-Glyceric Aciduria |
|
Status epilepticus, Opisthotonus, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral to... |
OMIM:220120 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:300558 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Migraine, Familial Hemiplegic, 2 |
|
Hemiplegia, Focal motor seizure, Dysmetria, Hemiparesis, Tremor, Bilateral tonic-clonic seizure, ... |
OMIM:602481 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-moto... |
OMIM:615637 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Dys... |
OMIM:617435 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Cystathioninuria |
|
Tremor, Seizure |
ORPHA:212 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Motor stereotypy, Seizure |
OMIM:619470 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxi... |
OMIM:614831 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Seizure |
OMIM:309545 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Seizure, Grow... |
ORPHA:70594 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Postnatal growth retardation, Intrauterine growth retardation, Spasticity, Seizure |
OMIM:617093 |
Lafora Disease |
|
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Ataxia, Focal im... |
ORPHA:501 |
Childhood Absence Epilepsy |
|
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:64280 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Null Syndrome |
|
Ataxia, Inability to walk, Decreased nerve conduction velocity, Progressive spastic quadriplegia,... |
ORPHA:280234 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Seizure, Dystonia |
ORPHA:329284 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Bilat... |
ORPHA:79264 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Generalized-onset seizure, Postural tremor |
OMIM:254900 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
Myoclonic-Astatic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Ataxia, EEG with focal spi... |
ORPHA:1942 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Short stature, Intention tremor, Babinski sign, Abnorm... |
ORPHA:397946 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Seizure |
ORPHA:79234 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Fasciculations, Tremor |
ORPHA:65684 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Spasticity, Seizure |
OMIM:300983 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity, Seizure |
ORPHA:33445 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Myoc... |
OMIM:619092 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Short stature, Parkinsonism, Tremor, Focal EEG discharges with secondary generali... |
ORPHA:3077 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Dentatorubral Pallidoluysian Atrophy |
|
Optic neuropathy, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia,... |
ORPHA:101 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure, Truncal ataxia, Chorea |
ORPHA:369840 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Seizure |
OMIM:618718 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Status epilepticus, Hemiplegia, Focal impaired awareness seizure, Limb hypertonia, Infantile spas... |
OMIM:616973 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure, Postnatal growth retardation |
ORPHA:79350 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Seizure, Dystonia |
OMIM:233910 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years),... |
ORPHA:477673 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Short stature, Tremor, Gait ataxia, Spasticity, Incoordination |
OMIM:213200 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Status epilepticus, Opisthotonus, Myoclonus, Chorea, Tetraparesis, Bilateral tonic-clonic seizure... |
OMIM:616672 |
Atypical Juvenile Parkinsonism |
|
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... |
ORPHA:391411 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia |
ORPHA:324588 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Dysmetria, Short stature, Babinski sign, Tremor, Spasticity, Delayed puberty, Seizure, Po... |
OMIM:607694 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
Early Infantile Epileptic Encephalopathy |
|
Atonic seizure, EEG abnormality, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... |
ORPHA:1934 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... |
OMIM:618877 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... |
ORPHA:101070 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
4H Leukodystrophy |
|
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Seizure, D... |
ORPHA:289494 |
Saccharopinuria |
|
Short stature, Spastic diplegia, Tremor, Gait ataxia, Seizure |
ORPHA:3124 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Pseudobulbar paralysis, Abnormal pyramidal sign, Rigidity, Hemiparesis, Bilateral tonic-clonic se... |
ORPHA:199354 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypertonia, Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized ... |
ORPHA:480864 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Clonic seizure, Recurrent hand flapping, Focal impaired awareness seizu... |
OMIM:619580 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Hypertonia, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clonic seiz... |
ORPHA:544503 |
Spinocerebellar Ataxia Type 10 |
|
Status epilepticus, Focal motor seizure, Progressive cerebellar ataxia, Focal impaired awareness ... |
ORPHA:98761 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... |
OMIM:300055 |
Myoclonic Epilepsy Of Lafora |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... |
OMIM:254780 |
3-Methylglutaconic Aciduria, Type Viii |
|
Hypertonia, Tremor, Seizure, Growth delay, Dystonia |
OMIM:617248 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
EEG with focal spikes, Ataxia, EEG with focal sharp waves, Infantile spasms, Bilateral tonic-clon... |
ORPHA:79243 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Myoclonus, Spasticity, Ataxia |
OMIM:616494 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Abnormal pyramidal sign, Progressive spastic quadrip... |
ORPHA:309246 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Status epilepticus, Ataxia, Short stature, Myoclonus, Limb hypertonia, Rigidity, Tremor, EEG with... |
ORPHA:442835 |
X-Linked Dystonia-Parkinsonism |
|
Progressive extrapyramidal muscular rigidity, Parkinsonism with favorable response to dopaminergi... |
ORPHA:53351 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Status epilepticus, Motor stereotypy, Ataxia, Atonic seizure, Recurrent hand flapping, Tonic seiz... |
OMIM:300912 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure, Hemiparesis |
OMIM:540000 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, EEG abnormality, EEG with frontal sharp slow waves, Generalized myoclonic seizu... |
ORPHA:457351 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Ataxia, Bilateral tonic-clonic seizure with focal onset, Cerebral palsy, S... |
ORPHA:163681 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Sneddon Syndrome |
|
Tremor, Hemiparesis, Chorea, Seizure |
ORPHA:820 |
Urocanase Deficiency |
|
Tremor, Ataxia, Short stature |
OMIM:276880 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Growth delay, Dystonia |
OMIM:619422 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Postnatal growth retardation, Speech apraxia, Seizure |
ORPHA:529965 |
Ring Chromosome 21 Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Generalized myoclonic sei... |
ORPHA:1445 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... |
OMIM:609260 |
Dopa-Responsive Dystonia |
|
Leg dystonia, Generalized tonic seizure, Poor coordination, Abnormality of extrapyramidal motor f... |
ORPHA:255 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Tongue fasciculations, Fasciculations, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure, Short stature |
OMIM:618120 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Inherited Creutzfeldt-Jakob Disease |
|
EEG with persistent abnormal rhythmic activity, Progressive extrapyramidal muscular rigidity, Clu... |
ORPHA:282166 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Status epilepticus, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia... |
ORPHA:363400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Focal impaired awareness seizure, Cerebral palsy, Athetosis, Spastic paraplegia, Bilateral tonic-... |
ORPHA:369929 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
3-Methylglutaconic Aciduria, Type Viia |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... |
OMIM:619835 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor |
OMIM:210000 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Spasticity,... |
OMIM:619076 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic quadriplegia, Progressive extrapyramidal movement disorder, Progressive spast... |
ORPHA:329308 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia |
OMIM:128235 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Generalized-onset seizure, Eating-ind... |
ORPHA:544254 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Intrauterine growth retardation, Atonic seizure, Generalized myoclonic seizure, Short... |
ORPHA:79351 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Tremor, Choreoathetosis, Spasticity, Seizure, Gr... |
ORPHA:765 |
Angelman Syndrome |
|
Status epilepticus, Atypical absence seizure, Ataxia, Atonic seizure, EEG abnormality, Recurrent ... |
ORPHA:72 |
Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Limb hypertonia, Babinski sign, Bilateral tonic-clonic seizure, Clonus, Spastic te... |
ORPHA:423479 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Bilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cerebellar ataxia associated with quadrupedal gait, Generalized myoclonic... |
ORPHA:268940 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Seizure |
ORPHA:99825 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... |
OMIM:607483 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Seizure, Oculomotor apraxia, Eyelid myoc... |
OMIM:618060 |
Leukoencephalopathy With Ataxia |
|
Optic neuropathy, Gait ataxia, Abnormal chorioretinal morphology, Limb ataxia |
OMIM:615651 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Growth d... |
OMIM:619738 |
X-Linked Non-Syndromic Intellectual Disability |
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Babinski sign, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
ORPHA:777 |
Japanese Encephalitis |
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Status epilepticus, Focal motor seizure, Hypertonia, EEG abnormality, Opisthotonus, Respiratory p... |
ORPHA:79139 |
Aicardi-Goutieres Syndrome 6 |
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Tremor, Rigidity, Dystonia |
OMIM:615010 |
Pelger-Huet Anomaly |
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Mild short stature, Bilateral tonic-clonic seizure, Lower limb hypertonia, Seizure |
OMIM:169400 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... |
ORPHA:225147 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Hypertonia, Generalized myoclonic seizure, Limb hypertonia, Bilateral tonic-clonic seizure, Gener... |
OMIM:615501 |
Ritscher-Schinzel Syndrome 4 |
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Motor stereotypy, Ataxia, Short stature, Chorea, Athetosis, Bilateral tonic-clonic seizure, Focal... |
OMIM:619435 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Tremor, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Trisomy X |
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Tremor, Seizure |
ORPHA:3375 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Motor stereotypy, Bilateral tonic-clonic seizure |
OMIM:616351 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
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Spastic diplegia, Tremor, Seizure, Postnatal growth retardation, Dystonia |
ORPHA:480907 |
Waisman Syndrome |
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Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Seizure |
OMIM:311510 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Status epilepticus, Short stature, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Spas... |
ORPHA:364028 |
Parkinson Disease 14, Autosomal Recessive |
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Axial dystonia, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rolling... |
OMIM:612953 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
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Bilateral tonic-clonic seizure |
OMIM:616083 |
Jaberi-Elahi Syndrome |
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Dysmetria, Appendicular spasticity, Tremor, Choreoathetosis, Bilateral tonic-clonic seizure, Gait... |
OMIM:617988 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... |
OMIM:617145 |
Developmental And Epileptic Encephalopathy 100 |
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Typical absence seizure, EEG with photoparoxysmal response, Motor stereotypy, Tonic seizure, Myoc... |
OMIM:619777 |
Classic Phenylketonuria |
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Hemiplegia, Hypertonia, Tremor, Paraplegia, Seizure, Growth delay |
ORPHA:79254 |
Spontaneous Periodic Hypothermia |
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Tremor, Ataxia, Seizure |
ORPHA:29822 |
Epilepsy, Progressive Myoclonic, 10 |
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Ataxia, Progressive cerebellar ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Spas... |
OMIM:616640 |
Pelizaeus-Merzbacher Disease |
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Ataxia, Short stature, Intention tremor, Abnormal pyramidal sign, Progressive spastic quadriplegi... |
OMIM:312080 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
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Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Tremor, Ataxia |
OMIM:619099 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Ataxia, Upper motor neuron dysfunction, Generalized myoclonic seizure, Spastic paraparesis, Hemip... |
ORPHA:395 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Motor stereotypy, Ataxia, Cataplexy, Generalized tonic seizure, Progressive spasticity, Febrile s... |
ORPHA:496641 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Athetosis |
OMIM:615474 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
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Growth delay, Ataxia, Cataplexy, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clon... |
OMIM:617193 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Seizure, ... |
OMIM:617710 |
Sialidosis Type 2 |
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