Epilepsy, Benign Occipital |
|
Seizure, EEG abnormality |
OMIM:132090 |
Epilepsy, Reading |
|
Seizure, EEG abnormality |
OMIM:132300 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:601068 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
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 |
Bilateral Frontal Polymicrogyria |
|
Seizure, EEG abnormality |
ORPHA:208444 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Epilepsy, Familial Adult Myoclonic, 5 |
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Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... |
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 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... |
OMIM:617831 |
Angelman syndrome (Type 1) |
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Seizure, EEG abnormality |
DECIPHER:4 |
Angelman syndrome (Type 2) |
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Seizure, EEG abnormality |
DECIPHER:54 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Epilepsy, Myoclonic Juvenile |
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Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Phosphoserine Phosphatase Deficiency |
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Seizure, Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Spastic Ataxia With Congenital Miosis |
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Seizure, Ataxia, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Epilepsy, Familial Temporal Lobe, 1 |
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Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) s... |
OMIM:609446 |
Continuous Spikes And Waves During Sleep |
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Clumsiness, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... |
ORPHA:725 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Bilateral tonic-clonic seizure, Short stature, Continuous spike and waves during slow sleep, Foca... |
OMIM:245570 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
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EEG with generalized epileptiform discharges, Speech apraxia, Seizure, Bilateral tonic-clonic sei... |
ORPHA:163721 |
Neuropathy, Hereditary Sensory, Atypical |
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Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Developmental And Epileptic Encephalopathy 94 |
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Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Rigidity, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Tremor, Ataxia, EEG abnorm... |
OMIM:617836 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
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Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality |
OMIM:617643 |
Benign Familial Infantile Epilepsy |
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Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
Centralopathic Epilepsy |
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Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... |
OMIM:117100 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure |
OMIM:613721 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Stereotypy, Seizure, Generalized myoclonic seizure |
OMIM:616341 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave complexes, ... |
OMIM:254800 |
Nodular Neuronal Heterotopia |
|
Seizure, EEG abnormality |
ORPHA:2149 |
Autosomal Dominant Epilepsy With Auditory Features |
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EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
Epilepsy, Idiopathic Generalized |
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Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
Perioral Myoclonia With Absences |
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Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Focal seizure with... |
ORPHA:139426 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
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Spastic diplegia, Photosensitive tonic-clonic seizure |
OMIM:226800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:610003 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, EEG wit... |
ORPHA:79137 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Cortical Malformations, Occipital |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
Alternating Hemiplegia Of Childhood 1 |
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Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Episodic hem... |
OMIM:104290 |
Mental Retardation, X-Linked 82 |
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Seizure, EEG abnormality |
OMIM:300518 |
Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... |
ORPHA:101071 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
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Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
Juvenile Absence Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Seizure, Ataxia, Status epilepticus, Broad-based gait, Attention deficit hyper... |
OMIM:617665 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Short stature, Lower limb spasticity, Bilateral tonic-clonic seizure |
OMIM:619639 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:607876 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:607681 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Seizure, Tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Familial Focal Epilepsy With Variable Foci |
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EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... |
ORPHA:98820 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
ORPHA:36387 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, Atonic seizure, EEG a... |
ORPHA:2382 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... |
ORPHA:86909 |
Episodic Ataxia, Type 9 |
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Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Episo... |
OMIM:618924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Seizure, Tremor, Stereotypical hand wringing, Epileptic spasm |
OMIM:619561 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 32 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616366 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
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 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... |
OMIM:619317 |
Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure |
OMIM:612437 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Seizure |
OMIM:619061 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor, Focal-onset seizure, Prolonged somat... |
OMIM:608105 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Short stature, Postnatal growth retardation, Bilateral tonic-clonic seizure |
OMIM:608278 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Seizure, Ataxia, EEG abnormality, Generalized myoclonic seizure |
OMIM:614706 |
Seizures, Benign Familial Infantile, 1 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:601764 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor, Spasticity, Hemiplegia, Ab... |
OMIM:614561 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Seizure, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... |
ORPHA:3006 |
Carnosinase Deficiency |
|
Generalized myoclonic seizure, EEG abnormality |
ORPHA:1361 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... |
ORPHA:139431 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic ... |
ORPHA:53583 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Atonic seizure, Apraxia, Sp... |
OMIM:617810 |
Epilepsy, Progressive Myoclonic 7 |
|
Seizure, Ataxia, Myoclonus, Tremor |
OMIM:616187 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Babinski sign, Retinal degeneration, Growth delay, Seizure, Ataxia, Spasticity, Li... |
OMIM:614322 |
Isolated Focal Cortical Dysplasia |
|
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Hemiparesis, Seizure, Bil... |
ORPHA:65683 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Seizure, Abnormal nervous system electrophysiology |
OMIM:601780 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus |
OMIM:208700 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... |
OMIM:616645 |
Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:618873 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Normal interictal EEG, Focal impaired awareness ... |
OMIM:607745 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slurred speech, A... |
OMIM:300423 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia |
OMIM:612736 |
Unilateral Focal Polymicrogyria |
|
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... |
ORPHA:268947 |
Developmental And Epileptic Encephalopathy 4 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Spastic tetraplegia, Tremor, EEG with burst suppr... |
OMIM:612164 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Seizure, Ataxia, Status epilepticus, Tremor, Spasticity |
OMIM:614307 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spasticity, Spastic pa... |
ORPHA:100988 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Multifocal epileptiform discharges, S... |
OMIM:609056 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, EEG with polyspike wave complexes, ... |
ORPHA:308 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Bilateral tonic-clonic seizure, Short stature, Myoclonus, Ataxia, Spastic diplegia |
OMIM:619065 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Seizure, Ataxia |
OMIM:618876 |
Developmental And Epileptic Encephalopathy 43 |
|
Seizure, Hyperactivity, Ataxia |
OMIM:617113 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sh... |
ORPHA:289266 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619191 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... |
OMIM:619157 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, Convulsive status epilepticus, Stereotypical hand wringing, EEG abnormality, Focal-onset ... |
OMIM:618760 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:121200 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, EEG with focal spike waves, Limb myoclonus, Bilateral tonic-clonic seizure, Blepharos... |
ORPHA:352582 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:616281 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Tremor, Status epilept... |
ORPHA:330050 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Alternating Hemiplegia Of Childhood 2 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Ataxia, Seizure, Status epilepticu... |
OMIM:614820 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:618917 |
New-Onset Refractory Status Epilepticus |
|
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... |
ORPHA:363558 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Developmental And Epileptic Encephalopathy 90 |
|
Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... |
OMIM:301058 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Seizure, Ataxia, Tremor, Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:614018 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Brain Small Vessel Disease 2 |
|
Growth delay, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hemiplegia, Focal-onset seizure |
OMIM:614483 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Stereotypy, Seizure, Ataxia, Tremor |
OMIM:617862 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
Bilateral Generalized Polymicrogyria |
|
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Paroxys... |
ORPHA:208447 |
Lichtenstein-Knorr Syndrome |
|
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... |
OMIM:618856 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure... |
ORPHA:208441 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... |
ORPHA:363549 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Seizure, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Chorea, Focal emotional s... |
ORPHA:178469 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, G... |
OMIM:618093 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Chorea, ... |
ORPHA:382 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Tremor |
OMIM:615362 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
OMIM:609800 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Seizure, Tremor, Status epilepticus, Oculomotor apraxi... |
ORPHA:529665 |
Rasmussen Subacute Encephalitis |
|
Involuntary movements, Increased theta frequency activity in EEG, EEG with focal epileptiform dis... |
ORPHA:1929 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Parkinson Disease 19A, Juvenile-Onset |
|
Rigidity, Bradykinesia, Abnormal pyramidal sign, Seizure, Tremor, Spasticity, Parkinsonism |
OMIM:615528 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Tremor, Ataxia, Spa... |
ORPHA:79262 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generali... |
OMIM:615744 |
Pontocerebellar Hypoplasia, Type 14 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetraplegia, Hyperto... |
OMIM:619301 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Ataxia, Status epilepticus, Hyperkinetic movements, EEG ... |
OMIM:271980 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure |
OMIM:616421 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, EEG with occipital... |
OMIM:619428 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ata... |
ORPHA:313772 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Growth delay, Bilateral tonic-clonic seizure, Seizure, EEG with ... |
ORPHA:488635 |
Rare Non-Syndromic Intellectual Disability |
|
Seizure, Spasticity, Bilateral tonic-clonic seizure |
ORPHA:101685 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Foxg1 Syndrome |
|
Severe postnatal growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, Choreoathe... |
ORPHA:561854 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Focal-onset sei... |
OMIM:618770 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic hemiparesis, Spastic... |
OMIM:619616 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Spa... |
OMIM:619338 |
Hemimegalencephaly |
|
Optic atrophy, Abnormal neuron morphology, Focal tonic seizure, Myoclonus, Hemihypsarrhythmia, Fo... |
ORPHA:99802 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Postnatal growth retardation, Ataxia, Short stature |
OMIM:616113 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Dravet Syndrome |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Pontocerebellar Hypoplasia, Type 15 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetraplegia, Hyperto... |
OMIM:619302 |
Spastic Ataxia 5, Autosomal Recessive |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia,... |
OMIM:614487 |
Lissencephaly, X-Linked, 1 |
|
Seizure, Ataxia, Postnatal growth retardation, Spasticity |
OMIM:300067 |
Juvenile Myoclonic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... |
ORPHA:307 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Bilateral tonic-clonic seizure, EEG with series of focal spikes, Focal t... |
ORPHA:168491 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Seizure, Tremor, Spastic paraplegia |
OMIM:600363 |
Systemic Primary Carnitine Deficiency |
|
Clumsiness, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Seizure, Limb ataxia, Gait ataxia |
ORPHA:404499 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, Fasciculations, Ste... |
ORPHA:275864 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Myoclonus, Seizure, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign |
OMIM:615924 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Retinal degeneration, Dysmetria, Myoclonus, Abnormal nervous system electrophysiology... |
OMIM:256731 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Myoclonus, Abnormal nervous system electrophysiology |
OMIM:204500 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Developmental And Epileptic Encephalopathy 79 |
|
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... |
OMIM:618559 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Rigidity, Dysmetria, Seizure, Tremor, Generalized myoclonic seizure |
OMIM:618090 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... |
ORPHA:2590 |
Severe Canavan Disease |
|
Babinski sign, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Spasticity |
ORPHA:314911 |
X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extrapyramidal muscular... |
ORPHA:93952 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Seizure, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia |
OMIM:618730 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:607317 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign |
OMIM:612016 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Focal tonic seizure, Cho... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 52 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... |
OMIM:617350 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Choreoathetosis, Myoclonus, Seizure, Tremor, Hypertonia |
OMIM:261630 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Intention tremor, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ... |
OMIM:610539 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure,... |
ORPHA:98784 |
Dk1-Cdg |
|
Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Hypsarrhythmia, EEG with general... |
ORPHA:91131 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... |
ORPHA:1945 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Seizure, Oculomotor apraxia, Inability to walk, Ataxia, Unsteady gait |
OMIM:618273 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Infantile Convulsions And Choreoathetosis |
|
Athetosis, Involuntary movements, Experiential epileptic aura, Normal interictal EEG, Choreoathet... |
ORPHA:31709 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Seizure, Ataxia, Tremor, Incoordination, Abnormal pyramidal sign |
OMIM:614947 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure, Short stature, Lower limb spasticity, Seizure, Generalized myoclo... |
ORPHA:464282 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Seizure, Tremor, Generalized-onset seizure, Tongue fas... |
OMIM:159950 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Growth delay, Choreoathetosis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Spasticity |
OMIM:612716 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Paresthesia |
OMIM:615361 |
Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Tremor |
OMIM:159900 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Limb hypertonia, Growth delay, Bilateral tonic-clonic seizure, EEG with generalized epileptiform ... |
ORPHA:488613 |
Hereditary Continuous Muscle Fiber Activity |
|
Seizure, Ataxia, Spastic gait, Slurred speech |
ORPHA:972 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia, Bilateral tonic-clonic seizure with ... |
OMIM:619028 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Tremor |
OMIM:300660 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Seizure, Ataxia, Tremor |
OMIM:618951 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:250972 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, EEG with generalized slow activity, Seizure... |
ORPHA:228360 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal... |
ORPHA:457205 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Tongue thrusting, Seizure... |
ORPHA:98795 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:618412 |
Developmental And Epileptic Encephalopathy 47 |
|
Gait disturbance, Optic disc pallor, Hypsarrhythmia, Seizure, Multifocal epileptiform discharges,... |
OMIM:617166 |
Developmental And Epileptic Encephalopathy 42 |
|
Athetosis, Seizure, Ataxia, Hypertonia, Tremor, EEG abnormality |
OMIM:617106 |
Sarcosinemia |
|
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Seizure, Tremor, Ataxia, Generalized-... |
ORPHA:79263 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Clumsiness, Bilateral tonic-clonic seizure, Frequent falls, EEG with generalized epileptiform dis... |
ORPHA:1947 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Seizure, Ataxia, Tremor, Tongue fasciculations |
OMIM:618170 |
Leukodystrophy, Hypomyelinating, 6 |
|
Rigidity, Choreoathetosis, Short stature, Seizure, Tremor, Ataxia, Spasticity |
OMIM:612438 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Dystonia, Growth delay, Dysmetria, Focal impaired awareness seizure, Hemiparesis, Seizure, Postna... |
OMIM:251950 |
Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Ankle clon... |
ORPHA:363654 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Upper limb spasticity, Bilateral tonic-clonic seizure, Short stature, Stereotypy, Seizure, Tremor... |
ORPHA:457240 |
Atypical Rett Syndrome |
|
Involuntary movements, Limb myoclonus, Growth delay, Infantile spasms, Tongue thrusting, Seizure,... |
ORPHA:3095 |
Cystathioninuria |
|
Seizure, Tremor |
ORPHA:212 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Seizure, Tremor, Parkinsoni... |
OMIM:300894 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Hsd10 Disease |
|
Rigidity, Choreoathetosis, Myoclonus, Seizure, Tremor, Ataxia, Postnatal growth retardation, Spas... |
ORPHA:391417 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... |
ORPHA:314632 |
Cataract-Ataxia-Deafness Syndrome |
|
Short stature, Decreased nerve conduction velocity, Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Short stature, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absenc... |
OMIM:300558 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... |
ORPHA:101110 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Rigidity, Choreoathetosis, Bradykinesia, Seizure, Tremor, Hypertonia, Ataxia, Parkinsonism |
OMIM:261640 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonus, Focal impaired ... |
ORPHA:501 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Bilateral tonic-clonic seizure, Poor motor coordination, Stereotypy... |
ORPHA:79264 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Seizure, Postnatal growth retardation, Intrauterine growth retardation, Spasticity |
OMIM:617093 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Dysmetria, Seizure, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, G... |
OMIM:614831 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Truncal ataxia, Bilateral tonic-clonic seizure |
ORPHA:369840 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Rigidity, Decreased sensory nerve conduction velocity,... |
OMIM:603472 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Myoclonus, Intention tremor, Generalized-onset seizure, Action tremor, Gait ataxia |
OMIM:254900 |
Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Fasciculations |
ORPHA:65684 |
Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Optic neuropathy, Dyssynergia, Choreoathetosis, D... |
ORPHA:101 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Seizure, Progressive cerebellar ataxia, Tremor, Abnormal pyramidal sign |
ORPHA:139485 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Seizure, Ataxia, Hypertonia, Tremor, Spasticity |
ORPHA:33445 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Seizure, Tremor, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... |
OMIM:619092 |
Mental Retardation, X-Linked, Syndromic 12 |
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Seizure, Postnatal growth retardation |
OMIM:309545 |
Developmental And Epileptic Encephalopathy 24 |
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Ataxia, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:615871 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
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Hypertonia, Postnatal growth retardation, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Crigler-Najjar Syndrome Type 1 |
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Seizure, Tremor |
ORPHA:79234 |
Myoclonic-Astatic Epilepsy |
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EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Tremor, Hereditary Essential, 4 |
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Postural tremor, Action tremor |
OMIM:614782 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Tremor, Kinetic tremor |
OMIM:611808 |
Null Syndrome |
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Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... |
ORPHA:280234 |
Intellectual Developmental Disorder, X-Linked 104 |
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Seizure, Ataxia, Spasticity, Tremor |
OMIM:300983 |
Autosomal Spastic Paraplegia Type 58 |
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Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Gait ataxia... |
ORPHA:397946 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Short stature, Focal EEG discharges with secondary generalization, Lower limb spasticity, Seizure... |
ORPHA:3077 |
Optic Atrophy 3, Autosomal Dominant |
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Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Rapid-Onset Dystonia-Parkinsonism |
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Torticollis, Bradykinesia, Seizure, Resting tremor, Parkinsonism, Gait ataxia |
ORPHA:71517 |
Corticobasal Syndrome |
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Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... |
ORPHA:454887 |
Spinocerebellar Ataxia Type 38 |
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Tremor, Gait ataxia |
ORPHA:423296 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Intrauterine growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia... |
ORPHA:79243 |
Spinocerebellar Ataxia Type 12 |
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Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... |
ORPHA:98762 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Pseudobulbar paralysis, Rigidity, Bilateral tonic-clonic seizure, Spastic ataxia, Hemiparesis, Sp... |
ORPHA:199354 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
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Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Lopes-Maciel-Rodan Syndrome |
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Bradykinesia, Seizure, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign |
OMIM:617435 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Babinski sign, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Tremor, Sp... |
ORPHA:477673 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Limb hypertonia, Opisthotonus, Bilateral tonic-clonic seizure, Tonic seizure, Choreoathetosis, My... |
OMIM:619580 |
Beta-Propeller Protein-Associated Neurodegeneration |
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Rigidity, Bradykinesia, Seizure, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
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EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clonic seizure, EEG wit... |
ORPHA:544503 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Myoclonic Epilepsy Of Lafora |
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Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Aprax... |
OMIM:254780 |
Infantile Cerebellar-Retinal Degeneration |
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Athetosis, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:614559 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Stereotypy, Seizure, Tremor, EEG abnormality, Spasticity |
OMIM:618718 |
Dystonia, Dopa-Responsive |
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Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... |
OMIM:128230 |
Saccharopinuria |
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Short stature, Seizure, Tremor, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
Bilateral Frontoparietal Polymicrogyria |
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Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
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Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Xeroderma Pigmentosum, Complementation Group G |
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Tremor, Ataxia, Growth delay, Spasticity |
OMIM:278780 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 10 |
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Babinski sign, Kinetic tremor, Dysmetria, EEG with generalized epileptiform discharges, Focal imp... |
ORPHA:98761 |
Early Infantile Epileptic Encephalopathy |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... |
ORPHA:1934 |
Spinal Muscular Atrophy, Jokela Type |
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Tremor, Fasciculations |
OMIM:615048 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Involuntary movements, Babinski sign, Clonus, Bilateral tonic-clonic seizure, Infantile spasms, F... |
ORPHA:480864 |
Intellectual Developmental Disorder, X-Linked 98 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Lower limb spasticity, Hypsarrhy... |
OMIM:300912 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
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Bilateral tonic-clonic seizure |
OMIM:618832 |
Glut1 Deficiency Syndrome 2 |
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Tremor, Ataxia, EEG abnormality, Choreoathetosis |
OMIM:612126 |
Paralysis Agitans, Juvenile, Of Hunt |
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Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:168100 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Bilateral tonic-clonic seizure, Hemiparesis |
OMIM:540000 |
Spinocerebellar Ataxia 18 |
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Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Late-Infantile/Juvenile Krabbe Disease |
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Clumsiness, Prolonged brainstem auditory evoked potentials, Febrile seizure (within the age range... |
ORPHA:206443 |
Hyperphenylalaninemia, Bh4-Deficient, B |
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Limb hypertonia, Rigidity, Choreoathetosis, Seizure, Tremor, Hyperkinetic movements |
OMIM:233910 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Seizure, Tremor, Hypertonia,... |
OMIM:618877 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Cerebral palsy, Interictal epileptiform activity, EEG with generalized epileptiform discharges, L... |
ORPHA:163681 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Involuntary movements, Limb hypertonia, Rigidity, Short stature, EEG with multifocal slow activit... |
ORPHA:442835 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
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Limb hypertonia, Growth delay, Rigidity, Cerebral palsy, Bradykinesia, Seizure, Tremor |
ORPHA:70594 |
Atypical Juvenile Parkinsonism |
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Involuntary movements, Rigidity, Myoclonus, Bradykinesia, Seizure, Resting tremor, Abnormal pyram... |
ORPHA:391411 |
Ring Chromosome 21 Syndrome |
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Short stature, Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, S... |
ORPHA:1445 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Babinski sign, Choreoathetosis, Spastic gait, Bradykinesia, Spastic tetraplegia, EEG with general... |
OMIM:300055 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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EEG with frontal sharp slow waves, Limb hypertonia, Infantile spasms, Bilateral tonic-clonic seiz... |
ORPHA:457351 |
4H Leukodystrophy |
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Short stature, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, ... |
ORPHA:289494 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
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Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm |
ORPHA:420485 |
Parkinson Disease 22, Autosomal Dominant |
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Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
Urocanase Deficiency |
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Tremor, Ataxia, Short stature |
OMIM:276880 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Athetosis, Bilateral tonic-clonic seizure, Cerebral palsy, Focal impaired awareness seizure, Seiz... |
ORPHA:369929 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
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Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Hypertonia, Focal-onset... |
OMIM:619091 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Opisthotonus, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Generalized-onset seizure |
OMIM:615501 |
Sneddon Syndrome |
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Seizure, Chorea, Hemiparesis, Tremor |
ORPHA:820 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... |
ORPHA:216873 |
Spinocerebellar Ataxia 23 |
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Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve conduction velo... |
OMIM:609260 |
3-Methylglutaconic Aciduria, Type Viii |
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Seizure, Hypertonia, Growth delay, Tremor |
OMIM:617248 |
Bilateral Polymicrogyria |
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Infantile spasms, Bilateral tonic-clonic seizure, Cerebellar ataxia associated with quadrupedal g... |
ORPHA:268940 |
Inherited Creutzfeldt-Jakob Disease |
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Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Babinski sign, Clonus, Limb hypertonia, Intrauterine growth retardation, Bilateral tonic-clonic s... |
ORPHA:423479 |
Kufor-Rakeb Syndrome |
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Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Seizure, Tremor, Hype... |
OMIM:606693 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
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Myoclonic seizure, Hypsarrhythmia, Seizure, Hypertonia, Bilateral tonic-clonic seizure with gener... |
OMIM:619076 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Tremor, Abnormal sensory nerve conduction velocity, Fasciculations, Tongue fasciculations |
ORPHA:276435 |
Parkinson Disease 17 |
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Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:600116 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Athetosis, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Short stature, Focal ... |
ORPHA:79351 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Familial Dyskinesia And Facial Myokymia |
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Chorea, Resting tremor, Myoclonus, Limb hypertonia |
ORPHA:324588 |
Gm2 Gangliosidosis, Ab Variant |
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Short stature, Chorea, Exaggerated startle response, Seizure, Postnatal growth retardation, Progr... |
ORPHA:309246 |
Angelman Syndrome |
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Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Tongue thrusting, Seizure, Tremor, S... |
ORPHA:72 |
Sneddon Syndrome |
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Seizure, Hemiplegia, Tremor |
OMIM:182410 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Seizure, Postnatal growth retardation, Speech apraxia, Stereotypy |
ORPHA:529965 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
Spinocerebellar Ataxia 7 |
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Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Behr Syndrome |
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Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Pelger-Huet Anomaly |
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Seizure, Mild short stature, Lower limb hypertonia, Bilateral tonic-clonic seizure |
OMIM:169400 |
Pelizaeus-Merzbacher Disease |
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Head titubation, Short stature, Choreoathetosis, Seizure, Tremor, Ataxia, Progressive spastic qua... |
OMIM:312080 |
Parkinson Disease 14, Autosomal Recessive |
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Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
X-Linked Non-Syndromic Intellectual Disability |
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Seizure, Babinski sign, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:777 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Poor coordination, Eating-induced seizure, Tremor, Ataxia, Generalized-onset seizure, Recurrent h... |
ORPHA:544254 |
Hypermanganesemia With Dystonia 2 |
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Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
OMIM:617013 |
Nipah Virus Disease |
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Seizure, Myoclonus, Tremor |
ORPHA:99825 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Dysmetria, Ataxia, Tremor |
OMIM:617917 |
Japanese Encephalitis |
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Paralysis, Decreased motor nerve conduction velocity, Opisthotonus, Weakness due to upper motor n... |
ORPHA:79139 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Babinski sign, Bilateral tonic-clonic seizure, Short stature, Myoclonus, Seizure, Status epilepti... |
ORPHA:364028 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Bilateral tonic-clonic seizure, Stereotypy |
OMIM:616351 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
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Short stature, Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
OMIM:619059 |
Waisman Syndrome |
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Cogwheel rigidity, Bradykinesia, Seizure, Resting tremor, Parkinsonism |
OMIM:311510 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism |
ORPHA:521406 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
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Growth delay, Choreoathetosis, Seizure, Tremor, Ataxia |
OMIM:619422 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Poor motor coordination, Myoclonus, Seizure, Tremor, Status epilepticus, Ataxia, Tetraparesis, Sp... |
ORPHA:363400 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Seizure, Eyelid myoclonus, Tremor, Oculomotor apraxia, Incoordination, Ataxia, Abnormal pyramidal... |
OMIM:618060 |
Leukoencephalopathy With Ataxia |
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Optic neuropathy, Abnormal chorioretinal morphology, Limb ataxia, Gait ataxia |
OMIM:615651 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Tremor, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Bilateral tonic-clonic seizure, Lower limb spasticity, Hemiparesis, Seizure, Ataxia, Upper motor ... |
ORPHA:395 |
Trisomy X |
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Seizure, Tremor |
ORPHA:3375 |
Autosomal Dominant Cerebellar Ataxia |
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Torticollis, Fasciculations, Paraparesis, Seizure, Tongue fasciculations, Abnormal pyramidal sign... |
ORPHA:99 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Progressive gait at... |
ORPHA:329308 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
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Upper limb spasticity, Bilateral tonic-clonic seizure, Cataplexy, Growth delay, Lower limb spasti... |
OMIM:617193 |
Pyruvate Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Growth delay, Choreoathetosis, Cerebral palsy, Seizure, Tremor, ... |
ORPHA:765 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Athetosis, Spastic tetraplegia, Cerebral palsy, Bilateral tonic-clonic seizure |
OMIM:615474 |
Spontaneous Periodic Hypothermia |
|
Seizure, Ataxia, Tremor |
ORPHA:29822 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Classic Phenylketonuria |
|
Growth delay, Paraplegia, Seizure, Tremor, Hypertonia, Hemiplegia |
ORPHA:79254 |
Epilepsy, Progressive Myoclonic, 10 |
|
Myoclonus, Spastic tetraplegia, Spastic ataxia, Seizure, Ataxia, Progressive cerebellar ataxia, S... |
OMIM:616640 |
Parkinsonism-Dystonia 1, Infantile-Onset |
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Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... |
OMIM:183090 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Bilateral tonic-clonic seizure |
ORPHA:99742 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Progressive spasticity, Febrile seizure (within the age range of 3 months to 6 years), Growth del... |
ORPHA:496641 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked potentials, Motor ... |
ORPHA:206594 |
Sialidosis Type 2 |
|
Seizure, Ataxia, Short stature, Tremor |
ORPHA:87876 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... |
ORPHA:53351 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure |
ORPHA:453510 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Growth delay, Pseudobulbar paralysis, Short stature, Tremor, Tetraplegia, Spastici... |
OMIM:616586 |
Sandhoff Disease |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Exaggerated startle response, Fasciculations, ... |
OMIM:268800 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Bilateral tonic-clonic seizure, Short stature, Chorea, Stereotypy, Ataxia, Focal-onset... |
OMIM:619435 |
Pontocerebellar Hypoplasia Type 2 |
|
Babinski sign, Infantile spasms, Choreoathetosis, Upper limb hypertonia, Seizure, Bilateral tonic... |
ORPHA:2524 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Chorea, Bradykinesia, Seizure, Atypical absence status epilepticus, Resting tremor... |
ORPHA:225147 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Seizure, Spastic diplegia, Postnatal growth retardation, Tremor |
ORPHA:480907 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic sei... |
ORPHA:42 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Seizure, Tremor, Hypertonia, S... |
ORPHA:137898 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Short stature, Dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
OMIM:610185 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Rigidity, Paroxysmal dyskinesia, Chorea, Focal m... |
ORPHA:2131 |
Leber Optic Atrophy |
|
Leber optic atrophy, Optic atrophy, Optic neuropathy, Dystonia, Postural tremor, Ataxia, Central ... |
OMIM:535000 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity, Paraparesis |
ORPHA:99014 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Photosensitive myoclonic seizure, Hypertonia, Short stature |
ORPHA:1192 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Short stature, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity... |
ORPHA:1170 |
Sialidosis Type 1 |
|
Short stature, Myoclonus, Decreased nerve conduction velocity, Seizure, Ataxia, Tremor, Slurred s... |
ORPHA:812 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Seizure, Decreased nerve conduction velocity, Tremor |
ORPHA:397744 |
Ddost-Cdg |
|
Seizure, Oromotor apraxia, Short stature, Tremor |
ORPHA:300536 |
Pontocerebellar Hypoplasia, Type 2E |
|
Opisthotonus, Infantile spasms, Tonic seizure, Short stature, Myoclonic seizure, Myoclonus, Spast... |
OMIM:615851 |
Jaberi-Elahi Syndrome |
|
Choreoathetosis, Dysmetria, Seizure, Tremor, Spasticity, Gait ataxia |
OMIM:617988 |
Nivelon-Nivelon-Mabille Syndrome |
|
Severe short stature, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:600092 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Ataxia, Gait ataxia, Tremor |
OMIM:618387 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Abnormal peripheral action potential amplitude, Limb fasciculations |
ORPHA:90117 |
Ataxia-Telangiectasia |
|
Short stature, Seizure, Ataxia, Tremor, Spasticity, Delayed puberty |
ORPHA:100 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... |
OMIM:213600 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature |
OMIM:615925 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
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Decreased motor nerve conduction velocity, Gait disturbance, Optic neuropathy, Optic disc pallor,... |
ORPHA:101076 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
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Seizure, Ataxia, Hypertonia, Tremor |
OMIM:619556 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
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Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogwheel rigid... |
OMIM:607483 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Growth delay, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Oculomotor apraxia, Ataxia, EEG... |
ORPHA:247262 |
Gerstmann-Straussler Disease |
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Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... |
OMIM:137440 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Babinski sign, Bilateral tonic-clonic seizure, Short stature, Stereotypy, Hypertonia, Spasticity,... |
OMIM:615802 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Limb trem... |
OMIM:218000 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Clonus, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure, Lower limb spasticity... |
ORPHA:447997 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
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Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Spastic tetraparesis, Bilateral tonic-clonic seizure |
OMIM:608809 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Seizure, Tremor |
ORPHA:276608 |
Myopathy With Extrapyramidal Signs |
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Clumsiness, Clonus, Growth delay, Choreoathetosis, Frequent falls, Chorea, Abnormality of extrapy... |
OMIM:615673 |
Aicardi-Goutieres Syndrome 6 |
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Tremor, Rigidity |
OMIM:615010 |
3P25.3 Microdeletion Syndrome |
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Bilateral tonic-clonic seizure, Stereotypy, Ataxia, Generalized myoclonic seizure, Generalized no... |
ORPHA:435638 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:617145 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordination, Aprax... |
OMIM:615157 |
Kohlschutter-Tonz Syndrome-Like |
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Stereotypy, Seizure, Focal-onset seizure, Generalized tonic seizure, Intrauterine growth retardat... |
OMIM:619229 |
Dopa-Responsive Dystonia |
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Rigidity, Poor coordination, Abnormality of extrapyramidal motor function, Seizure, Tremor, Slurr... |
ORPHA:255 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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Limb hypertonia, Bilateral tonic-clonic seizure, Seizure, Ataxia, Spasticity, Focal myoclonic sei... |
ORPHA:481152 |
Hermansky-Pudlak Syndrome 10 |
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Focal myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:617050 |
Riboflavin Transporter Deficiency |
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Seizure, Ataxia, Myoclonus, Tremor |
ORPHA:97229 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Dysmetria, Truncal titubation, Seizure, Tremor, Hypertonia, Gait ataxia |
OMIM:618056 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Seizure, Convulsive status epilepticus, Growth delay, Short stature |
OMIM:616716 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Decreased motor nerve conduction velocity, Babinski sign, Frequent falls, Dysmetria, Hand tremor,... |