Myoclonic Epilepsy, Hartung Type |
|
Generalized myoclonic seizure |
OMIM:159600 |
Intellectual Developmental Disorder, X-Linked 89 |
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Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
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Generalized non-motor (absence) seizure |
OMIM:612269 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Intellectual Developmental Disorder, X-Linked 41 |
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Generalized non-motor (absence) seizure |
OMIM:300849 |
Epilepsy, Idiopathic Generalized |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Intellectual Developmental Disorder, X-Linked 100 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Familial Temporal Lobe, 7 |
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Focal sensory seizure with auditory features |
OMIM:616436 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Epilepsy, Myoclonic Juvenile |
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Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Epilepsy, Familial Temporal Lobe, 8 |
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Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
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Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Paroxysmal Exertion-Induced Dyskinesia |
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Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... |
ORPHA:98811 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Febrile Seizures, Familial, 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Epilepsy, Familial Temporal Lobe, 3 |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Developmental And Epileptic Encephalopathy 9 |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure |
OMIM:618596 |
Epilepsy, Familial Temporal Lobe, 1 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Epilepsy, Familial Temporal Lobe, 4 |
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Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Juvenile Myoclonic Epilepsy |
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Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Perioral Myoclonia With Absences |
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Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Focal motor seizure, Generalized non-motor (absence)... |
OMIM:617665 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Continuous Spikes And Waves During Sleep |
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Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... |
ORPHA:725 |
Myoclonic-Atonic Epilepsy |
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Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
Seizures, Benign Familial Infantile, 2 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... |
OMIM:615744 |
Dravet Syndrome |
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Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
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Slender build, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:617709 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
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Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
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Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... |
OMIM:607682 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... |
OMIM:608636 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Myoclonic seizure, Depression, Seizure, Abn... |
OMIM:162350 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... |
OMIM:254800 |
Developmental And Epileptic Encephalopathy 6B |
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Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... |
ORPHA:2382 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
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Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Epilepsy, Familial Adult Myoclonic, 1 |
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Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Female Restricted Epilepsy With Intellectual Disability |
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Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att... |
OMIM:619191 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Seizure, Ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Dystonia 31 |
|
Generalized dystonia, Parkinsonism, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... |
OMIM:619639 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... |
ORPHA:86909 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... |
OMIM:617836 |
Episodic Ataxia, Type 5 |
|
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, Status epilepticus, A... |
OMIM:617171 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Self-injuriou... |
ORPHA:382 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Cachexia, Tremor, Chorea, Babinsk... |
OMIM:618093 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... |
OMIM:614561 |
Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... |
OMIM:617904 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... |
OMIM:618090 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... |
OMIM:605021 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia |
OMIM:213000 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Abnormality of extrapyra... |
OMIM:204300 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Chore... |
OMIM:619150 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... |
OMIM:616657 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... |
OMIM:617862 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Decreased body weight, Abnormal repetit... |
OMIM:614063 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... |
OMIM:614322 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Generalized non-motor (absence) seizure, Difficulty walking, Spasticity |
OMIM:618242 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Spasticity, EEG abnormality, Seizure, Hypertonia, Arrhythmia, Failure to thrive |
ORPHA:1314 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,... |
OMIM:616230 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal... |
OMIM:602066 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clonic seizure, Focal-o... |
OMIM:618917 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Clumsiness, Irritability, Focal impaired awareness ... |
OMIM:610003 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Waddling gait, Broad-based gait, Involuntary movements, Aggressive behavior, Unsteady gait, Gait ... |
ORPHA:468620 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz... |
ORPHA:100988 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... |
ORPHA:157941 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... |
OMIM:301020 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:603204 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... |
ORPHA:330050 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia |
OMIM:141500 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoc... |
OMIM:618497 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
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 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Inability to walk, EEG with burst suppression, Spastic tetraplegi... |
OMIM:617929 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 97 |
|
Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing |
OMIM:619561 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:613886 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... |
OMIM:619913 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par... |
ORPHA:53583 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... |
OMIM:619065 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... |
OMIM:609056 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait dist... |
ORPHA:544254 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Seizure, Spasticity |
OMIM:620317 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... |
ORPHA:1942 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized... |
OMIM:617600 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus |
ORPHA:86814 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... |
ORPHA:31709 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... |
OMIM:614860 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Irritability, Difficulty walking, ... |
OMIM:617393 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Nocturnal seizures,... |
OMIM:619725 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Focal-onset seizure, Self-injurious behavior, Convulsive status epilep... |
OMIM:618760 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora... |
ORPHA:208447 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Dep... |
ORPHA:71517 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc... |
OMIM:616645 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... |
OMIM:618170 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Abnormal pyramida... |
ORPHA:101070 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:617830 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Seizure, Bruxism, Spasticity |
ORPHA:356996 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Seizure, Focal impaired awareness seizure, Infantile spasms, Tonic seizure |
OMIM:617601 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... |
OMIM:239500 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive |
OMIM:269840 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizur... |
ORPHA:561854 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Self-i... |
OMIM:617493 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi... |
ORPHA:168491 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz... |
ORPHA:314911 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, ... |
OMIM:614487 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity... |
OMIM:619028 |
Polymyoclonus, Infantile |
|
Irritability, Ataxia, Myoclonus |
OMIM:263550 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
Lissencephaly 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Generalized tonic seizure |
OMIM:611603 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical abse... |
ORPHA:225147 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:615476 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Seizure, Tip-toe ... |
ORPHA:216866 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Seizure, Dystonia, Spasticity,... |
OMIM:617820 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Bradykinesia, Seizure, Ankle c... |
OMIM:617435 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Foc... |
ORPHA:411986 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Seizure, Irritability, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Repetitive compulsive... |
OMIM:300260 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni... |
OMIM:615924 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Em... |
OMIM:234500 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Abno... |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... |
OMIM:617976 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
OMIM:615493 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
Lafora Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali... |
ORPHA:501 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Epileptic spasm, EEG with burst suppression, Focal-onset seizure, M... |
ORPHA:3006 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... |
ORPHA:140927 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity |
ORPHA:309169 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity |
OMIM:278780 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Infantile Cerebellar-Retinal Degeneration |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decreased body weight, Fa... |
OMIM:614559 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spastic dysarthr... |
ORPHA:313772 |
Developmental And Epileptic Encephalopathy 41 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
Paroxysmal Kinesigenic Dyskinesia |
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Involuntary movements, Writer's cramp, Chorea, Athetosis, Seizure, Dystonia, Focal sensory seizure |
ORPHA:98809 |
Rasmussen Subacute Encephalitis |
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Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... |
ORPHA:1929 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Developmental And Epileptic Encephalopathy 47 |
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Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li... |
OMIM:617166 |
Atypical Rett Syndrome |
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Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Gait di... |
ORPHA:3095 |
Spinocerebellar Ataxia Type 10 |
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Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady g... |
ORPHA:98761 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
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Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Tubulinopathy-Associated Dysgyria |
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Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... |
ORPHA:467166 |
Alternating Hemiplegia Of Childhood 2 |
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Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni... |
OMIM:614820 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
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Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Combined Oxidative Phosphorylation Deficiency 45 |
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Tremor, Seizure, Failure to thrive, Ataxia |
OMIM:618951 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomoto... |
OMIM:612716 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
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Focal impaired awareness seizure |
OMIM:616193 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
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Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... |
OMIM:620166 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
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Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Obes... |
ORPHA:464282 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
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Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... |
ORPHA:199354 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Episodic Kinesigenic Dyskinesia 2 |
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Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Urocanase Deficiency |
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Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
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Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Dentatorubral-Pallidoluysian Atrophy |
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Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia |
OMIM:125370 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Developmental And Epileptic Encephalopathy 32 |
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Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Kohlschutter-Tonz Syndrome |
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Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Spasticity |
OMIM:226750 |
Sarcosinemia |
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Emotional lability, Ataxia, Tetraparesis, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Optic Atrophy 3, Autosomal Dominant |
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Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... |
OMIM:165300 |
Hyperphenylalaninemia, Bh4-Deficient, A |
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Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Sei... |
OMIM:261640 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Developmental And Epileptic Encephalopathy 92 |
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Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
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Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Autism, Susceptibility To, X-Linked 3 |
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Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Developmental And Epileptic Encephalopathy 12 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity |
OMIM:613722 |
Cln5 Disease |
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Hyperactivity, Generalized-onset seizure, Ataxia, Abnormal central motor function, Aggressive beh... |
ORPHA:228360 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
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Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Myoclonic seizure, Self-... |
OMIM:614254 |
Spinocerebellar Ataxia Type 14 |
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Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
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Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Seizures, Benign Familial Infantile, 3 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Spastic Paraplegia 6, Autosomal Dominant |
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Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Glut1 Deficiency Syndrome 1 |
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Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Seizure, Hemi... |
OMIM:606777 |
Huntington Disease |
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Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
Spinocerebellar Ataxia 17 |
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Broad-based gait, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetri... |
OMIM:607136 |
Familial Infantile Myoclonic Epilepsy |
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Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si... |
ORPHA:352582 |
Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity |
OMIM:300983 |
Developmental And Epileptic Encephalopathy 30 |
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Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
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Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
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Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spinocerebellar Ataxia 35 |
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Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... |
OMIM:619580 |
Spinocerebellar Ataxia 12 |
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Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Liang-Wang Syndrome |
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Dystonia, Ataxia, Generalized non-motor (absence) seizure, Status epilepticus |
OMIM:618729 |
Epilepsy, Progressive Myoclonic, 11 |
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Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor |
OMIM:618876 |
Huntington Disease-Like 1 |
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Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... |
OMIM:603218 |
2,4-Dienoyl-Coa Reductase Deficiency |
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Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Seizure, Dystonia, Spasticity, Fail... |
OMIM:616034 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Bilateral tonic-clonic seizure, Tremor, Overweight, Depression, Seizure, Hyperkinetic movements, ... |
ORPHA:457240 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Harel-Yoon Syndrome |
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Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Dystonia, Spasticity |
OMIM:617183 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Autism |
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Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
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Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Spinocerebellar Ataxia Type 20 |
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Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spinal Muscular Atrophy, Jokela Type |
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Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Bruxism, Focal impaired awar... |
OMIM:620149 |
Intellectual Developmental Disorder, X-Linked 30 |
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Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
Dystonia, Dopa-Responsive |
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Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
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Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
His Bundle Tachycardia |
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Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Familial Focal Epilepsy With Variable Foci |
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Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa... |
ORPHA:98820 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Dysesthesia, Unstea... |
ORPHA:79101 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... |
OMIM:302500 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, ... |
OMIM:300912 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Focal impaired awareness seizure, Generalized non-motor (absence) seizure |
OMIM:616521 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav... |
OMIM:617695 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Seizure, Status epilepticus, Spasti... |
OMIM:614307 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Hypoglycemia, Leucine-Induced |
|
Seizure, Spasticity, Ataxia, Irritability |
OMIM:240800 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... |
ORPHA:284324 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... |
ORPHA:98764 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Benign Familial Neonatal Epilepsy |
|
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... |
ORPHA:1949 |
Cdkl5-Deficiency Disorder |
|
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Gait disturbance, Inappropriate l... |
ORPHA:505652 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Fo... |
ORPHA:228346 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic... |
OMIM:617082 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Seizure, Irritability, Hyperkinetic movements, Dysph... |
OMIM:233910 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Seizure, Pill-rolling tremor, Shuf... |
OMIM:615528 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Spasticity, ... |
OMIM:618718 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... |
OMIM:616710 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... |
ORPHA:395 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... |
ORPHA:529665 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Dystonia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness... |
ORPHA:79263 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Seizure, Irritability, Dystonia |
OMIM:612126 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Depression, Prog... |
ORPHA:254881 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Seizure, Progressive spasticity, Dysphagia, Failure t... |
DECIPHER:45 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Hearing impairment |
OMIM:614369 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... |
OMIM:137440 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dysp... |
OMIM:618088 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Generalized-onset seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febrile s... |
OMIM:617188 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Inability ... |
OMIM:618012 |
Raynaud-Claes Syndrome |
|
Lower limb spasticity, Aggressive behavior, Depression, Progressive cerebellar ataxia, Seizure, F... |
OMIM:300114 |
Intellectual Developmental Disorder, X-Linked 72 |
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Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Coenzyme Q10 Deficiency, Primary, 4 |
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Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Dystonia 16 |
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Limb dystonia, Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnorm... |
OMIM:612067 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
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Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Spinocerebellar Ataxia 23 |
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Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul... |
OMIM:256731 |
Leukoencephalopathy With Calcifications And Cysts |
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Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... |
ORPHA:542310 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
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Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... |
OMIM:613970 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Developmental And Epileptic Encephalopathy 98 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... |
ORPHA:289266 |
Dystonia 13, Torsion, Autosomal Dominant |
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Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Gait imbalance, Gait ataxia |
ORPHA:488635 |
Den Hoed-De Boer-Voisin Syndrome |
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Tremor, Abnormal repetitive mannerisms, Ataxia, Overweight, Obesity, Nocturnal seizures, Stereoty... |
OMIM:619229 |
Unilateral Hemispheric Polymicrogyria |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi... |
ORPHA:101071 |
Chromosome 3Q29 Deletion Syndrome |
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Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Dystonia 16 |
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Limb dystonia, Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign... |
ORPHA:210571 |
Cortical Malformations, Occipital |
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Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Pontocerebellar Hypoplasia, Type 14 |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619301 |
Epilepsy, Familial Focal, With Variable Foci 4 |
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Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Irritability, Myoclonus, Truncal ataxia, L... |
OMIM:250620 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreo... |
ORPHA:13 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Generalized-onset seizure, Tremor, Myoclonus, Difficulty walking, Dysphagia, Generalized myocloni... |
OMIM:159950 |
Childhood Absence Epilepsy |
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Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Tay-Sachs Disease |
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Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typical abse... |
ORPHA:845 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... |
OMIM:613839 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
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Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Seizure, Difficulty walking, Dyston... |
ORPHA:280763 |
Spinocerebellar Ataxia 42 |
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Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
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Broad-based gait, Head titubation, Gait ataxia, Focal impaired awareness seizure, Truncal ataxia,... |
OMIM:620208 |
Developmental And Epileptic Encephalopathy 66 |
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Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Spinocerebellar Ataxia 19 |
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Postural tremor, Limb ataxia, Gait ataxia, Dysphagia, Progressive cerebellar ataxia, Cogwheel rig... |
OMIM:607346 |
Hyperphenylalaninemia, Bh4-Deficient, D |
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Tremor, Hypertonia |
OMIM:264070 |
Autosomal Spastic Paraplegia Type 58 |
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Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Spinocerebellar Ataxia 18 |
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Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Kufor-Rakeb Syndrome |
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Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Periventricular Nodular Heterotopia 7 |
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Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Seizure, Failure to thrive |
OMIM:617201 |
Autosomal Recessive Dopa-Responsive Dystonia |
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Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Clonic seizure, Spastic tetraplegia, Self-injurious behavior, Seizure, Hypertonia, Abnormal repet... |
OMIM:615282 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... |
OMIM:614831 |
Angelman Syndrome |
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Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... |
ORPHA:72 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
Leukodystrophy, Hypomyelinating, 11 |
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Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Encephalopathy Due To Prosaposin Deficiency |
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Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
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Dystonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, ... |
OMIM:607483 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Primary Dystonia, Dyt2 Type |
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Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
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Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, S... |
OMIM:614104 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Hearing i... |
OMIM:613724 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... |
OMIM:615716 |
Parkinson-Dementia Syndrome |
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Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Neuronal Intranuclear Inclusion Disease |
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Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Seizure, Syncope, Gait distu... |
OMIM:603472 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
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Inability to walk, Irritability, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:457205 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... |
ORPHA:329308 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Dystonia |
ORPHA:139485 |
Seizures, Benign Familial Neonatal, 2 |
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Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
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Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Bilateral tonic-clonic seizure, Spastic tetraplegia, Irritability, Dystonia, Failure to thrive |
OMIM:618237 |
Dystonia 24 |
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Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Rigidity, Tremor, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... |
ORPHA:240085 |
Pontocerebellar Hypoplasia, Type 15 |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619302 |
Sulfite Oxidase Deficiency, Isolated |
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Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Hypertonia, Agitat... |
OMIM:272300 |
Developmental And Epileptic Encephalopathy 107 |
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Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Hsd10 Disease |
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Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysphagia, Spast... |
ORPHA:391417 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Progressive Multifocal Leukoencephalopathy |
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Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemipl... |
ORPHA:217260 |
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