Juvenile Myoclonic Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... |
ORPHA:307 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... |
OMIM:607682 |
Myoclonic Epilepsy Of Infancy |
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Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg... |
ORPHA:86909 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Episodic Ataxia, Type 5 |
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Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, EEG with generalized spikes, Myo... |
OMIM:613855 |
Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
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Mania, Depression |
OMIM:125480 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Continuous spike and waves during slow sleep, Seizure, Attention defi... |
OMIM:301008 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
Continuous Spikes And Waves During Sleep |
|
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... |
ORPHA:725 |
Jeavons Syndrome |
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Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 9 |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Perioral Myoclonia With Absences |
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Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
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 |
Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
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 |
Epilepsy, Myoclonic Juvenile |
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Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Juvenile Absence Epilepsy |
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EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Myoclonic Epilepsy, Familial Infantile |
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Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... |
OMIM:605021 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Focal motor seizu... |
OMIM:617665 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Unilateral Focal Polymicrogyria |
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EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:614018 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs... |
OMIM:616409 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... |
OMIM:615744 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... |
OMIM:609446 |
Myoclonic Epilepsy, Hartung Type |
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Generalized myoclonic seizure |
OMIM:159600 |
Intellectual Developmental Disorder, X-Linked 89 |
|
Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ... |
ORPHA:31709 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, EEG with spike... |
ORPHA:36387 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, EEG abnormality, Stat... |
OMIM:617171 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... |
OMIM:616187 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms, Hypsarrhythmia |
ORPHA:3451 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:603204 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... |
ORPHA:33069 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Dravet Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
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 |
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 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, At... |
OMIM:619639 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, EEG abnormality, Tr... |
OMIM:608636 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... |
ORPHA:263516 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... |
ORPHA:308 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Seizure, EEG abnormality, Myoclonus, Loss of ambulation |
OMIM:600143 |
Benign Familial Neonatal Epilepsy |
|
Clonus, Simple febrile seizure, Focal EEG discharges with secondary generalization, Focal-onset s... |
ORPHA:1949 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
Benign Adult Familial Myoclonic Epilepsy |
|
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus |
ORPHA:86814 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Restlessness, Bilateral tonic-clonic seizure, Clumsiness, EEG abnormality, Focal impaired awarene... |
OMIM:610003 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Generalized-onset seizure, Focal-onset seizure, Inability to walk, Seizure, Hypertonia, Generaliz... |
OMIM:617188 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... |
OMIM:612736 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... |
OMIM:162350 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Multi... |
OMIM:617904 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... |
OMIM:618596 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... |
OMIM:619913 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... |
OMIM:616230 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no... |
ORPHA:98811 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking, Attention defic... |
OMIM:619191 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... |
OMIM:617771 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Polymicrogyria, Bilateral Temporooccipital |
|
Focal impaired awareness seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal o... |
OMIM:612691 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Restless legs, Myoclonus |
OMIM:102300 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... |
OMIM:613722 |
Early Myoclonic Encephalopathy |
|
Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ... |
ORPHA:1935 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... |
OMIM:616341 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus |
OMIM:204500 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Generali... |
OMIM:617836 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Myoclonus, Compulsive behaviors, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
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 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Inability to walk, EEG with burst suppression, Spastic tetraplegi... |
OMIM:617929 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:617709 |
Seizures, Benign Familial Neonatal, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Epilepsy, Progressive Myoclonic, 9 |
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Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Centralopathic Epilepsy |
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Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... |
OMIM:117100 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure |
OMIM:611092 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... |
ORPHA:382 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
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Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... |
OMIM:608105 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... |
ORPHA:289266 |
Familial Infantile Myoclonic Epilepsy |
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Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... |
ORPHA:352582 |
Developmental And Epileptic Encephalopathy 92 |
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Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Spasticity |
OMIM:617829 |
Developmental And Epileptic Encephalopathy 69 |
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Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, ... |
OMIM:618285 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
OMIM:615493 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
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Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
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EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Developmental And Epileptic Encephalopathy 27 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... |
OMIM:616139 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
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Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure |
OMIM:612621 |
Spinocerebellar Ataxia 20 |
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Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Hyperinsulinism-Hyperammonemia Syndrome |
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EEG with generalized epileptiform discharges, Generalized-onset seizure, Generalized non-motor (a... |
ORPHA:35878 |
Myoclonus, Cerebellar Ataxia, And Deafness |
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Ataxia, Myoclonus |
OMIM:159800 |
Developmental And Epileptic Encephalopathy 98 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Optic Atrophy 2 |
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Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Obsessive-Compulsive Disorder |
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Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Parasomnia, Sleep Bruxism Type |
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Myoclonus, Bruxism |
OMIM:606840 |
Developmental And Epileptic Encephalopathy 108 |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
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Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
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Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
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Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... |
OMIM:266100 |
Dentatorubral-Pallidoluysian Atrophy |
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Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus |
OMIM:125370 |
Dystonia 11, Myoclonic |
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Tremor, Torticollis, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Episodic Ataxia, Type 1 |
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Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
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Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with fo... |
ORPHA:163721 |
Seizures, Benign Familial Infantile, 2 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Developmental And Epileptic Encephalopathy 93 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Inability ... |
OMIM:618012 |
Spastic Paraplegia 89, Autosomal Recessive |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Spastic paraplegia, Ataxia |
OMIM:620379 |
Developmental And Epileptic Encephalopathy 91 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
Developmental And Epileptic Encephalopathy 53 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
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Aggressive behavior, Focal tonic seizure, Limb tremor, Self-injurious behavior, Seizure, Hyperton... |
OMIM:300699 |
Polymyoclonus, Infantile |
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Ataxia, Myoclonus |
OMIM:263550 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity |
OMIM:545000 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 37 |
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Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity |
ORPHA:356996 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
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Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal choreoathetosis, Nor... |
OMIM:602066 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity... |
OMIM:618090 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... |
ORPHA:485350 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
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Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:618412 |
Developmental And Epileptic Encephalopathy 42 |
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Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Glut1 Deficiency Syndrome 1 |
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Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, EEG abnormality, Myoclon... |
OMIM:606777 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Upper motor ne... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Severe temper tantrums, A... |
OMIM:618402 |
Childhood Absence Epilepsy |
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Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
Hereditary Geniospasm |
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EEG abnormality, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
Spastic Paraplegia 86, Autosomal Recessive |
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Ataxia, Inability to walk, Spastic paraplegia, Babinski sign, Choreoathetosis, Febrile seizure (w... |
OMIM:619735 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, ... |
ORPHA:95434 |
Myoclonic-Astatic Epilepsy |
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EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure... |
ORPHA:1942 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity |
OMIM:615924 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
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Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walking, Febrile seizure ... |
ORPHA:512260 |
Seizures, Benign Familial Neonatal, 2 |
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Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
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Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 34 |
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Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc... |
OMIM:616645 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
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Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
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Hyperactivity, Generalized-onset seizure, Inability to walk, Babinski sign, Spastic tetraplegia, ... |
OMIM:616657 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... |
OMIM:611726 |
Autism, Susceptibility To, X-Linked 3 |
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Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300425 |
Developmental And Epileptic Encephalopathy 99 |
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Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Adult Neuronal Ceroid Lipofuscinosis |
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Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... |
OMIM:615516 |
Pyridoxine-Dependent Epilepsy |
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Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, EEG with burst ... |
ORPHA:3006 |
Unilateral Hemispheric Polymicrogyria |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Abnormal nervous system ... |
OMIM:256731 |
Alternating Hemiplegia Of Childhood 1 |
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Choreoathetosis, Bilateral tonic-clonic seizure, Episodic hemiplegia, Episodic quadriplegia |
OMIM:104290 |
Benign Familial Neonatal-Infantile Seizures |
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Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... |
ORPHA:140927 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ... |
OMIM:301020 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
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Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Att... |
OMIM:619971 |
Obesity, Hyperphagia, And Developmental Delay |
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Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impulsivity... |
OMIM:619028 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus |
OMIM:605899 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Limb ataxia, Gait a... |
OMIM:614322 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclonus, Spasticity |
OMIM:617065 |
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, Episo... |
OMIM:618924 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ... |
OMIM:619565 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... |
OMIM:617600 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Self-injurious behavior, Seizure, ... |
OMIM:614254 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... |
ORPHA:208447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Head titubation, Gait ataxia, Focal impaired awareness seizure, Truncal ataxia,... |
OMIM:620208 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Loss of ambulati... |
ORPHA:206443 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... |
ORPHA:363558 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... |
ORPHA:99802 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Infantile spasms, Tonic seizure, Unsteady gait, Seizure, Focal impaired awareness seizure |
OMIM:617601 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... |
OMIM:609056 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors |
OMIM:619651 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t... |
OMIM:300423 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... |
ORPHA:71277 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
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 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Progressive Myoclonic Epilepsy With Dystonia |
|
EEG with irregular generalized spike and wave complexes, Abnormal pyramidal sign, Hemiparesis, St... |
ORPHA:352596 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Inability to walk, Chorea, Self-injurious behavior, EEG abnormality, Convuls... |
OMIM:618760 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Abnormal pyramida... |
ORPHA:101070 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Seizure, EEG abnormality, Gait disturbance, Myoclonus, Disinhibition, Apraxia |
OMIM:618193 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Dystonia 23 |
|
Torticollis, Gait disturbance, Myoclonus, Head tremor |
OMIM:614860 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension |
OMIM:300706 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Generalized non-motor (absence) seizure, Difficulty walking, Spasticity |
OMIM:618242 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... |
OMIM:617976 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Generalized non-motor (absence) seizure, Aggressive behavior |
OMIM:247100 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... |
OMIM:619616 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Generalized-onset seizure, Infantile spasms, Spastic tetraplegia, Myoclonic seizure, Hypsarrhythm... |
OMIM:618677 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... |
OMIM:617862 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Mul... |
ORPHA:411986 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile... |
OMIM:617493 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Inability to walk, Seizure, Status e... |
ORPHA:330050 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... |
ORPHA:1929 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
L-Ferritin Deficiency |
|
Restless legs, Generalized-onset seizure |
OMIM:615604 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Febrile seizure (within the age range of 3 months to 6 years), Tics |
OMIM:619264 |
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 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Epilepsy, Hot Water, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:613339 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dys... |
ORPHA:79263 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Spastic paraplegia, Babin... |
ORPHA:100988 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Abeta Amyloidosis, Arctic Type |
|
Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:324723 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Generalized myoclonic seizure, EEG abnormality, Febrile seizure (within the age range of 3 months... |
OMIM:617873 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Nocturnal seizures,... |
OMIM:619725 |
Kohlschutter-Tonz Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... |
OMIM:226750 |
Developmental And Epileptic Encephalopathy 47 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Mu... |
OMIM:617166 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Myoclonus, Difficulty walking, Dysphagia, Generalized myocloni... |
OMIM:159950 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Seizure, Unsteady gait, Myoclonus |
OMIM:610090 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Epi... |
ORPHA:53583 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spastic dysarthria, EEG ab... |
ORPHA:313772 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619428 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor... |
OMIM:618170 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Spastic tetraplegia, Spasticity, Athetosis, Febrile seizure (within the age range of 3 mo... |
OMIM:250950 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, EEG abnormality, Status epilepticus, Abnorma... |
OMIM:239500 |
Atypical Rett Syndrome |
|
Restrictive behavior, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Tre... |
ORPHA:3095 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Unsteady gait, Seiz... |
ORPHA:79101 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Developmental And Epileptic Encephalopathy 1 |
|
Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, EEG with burst suppre... |
OMIM:308350 |
Lissencephaly 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Generalized tonic seizure |
OMIM:611603 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Ge... |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, P... |
OMIM:616521 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Ankle clonus, Febrile seizure (within the age range of 3 months to 6 years), Hand tremor, Dysphagia |
ORPHA:280384 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykine... |
ORPHA:13 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... |
OMIM:612164 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus |
OMIM:619647 |
Lafora Disease |
|
Giant somatosensory evoked potentials, Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-cl... |
ORPHA:501 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Ring Chromosome 21 Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, Seizure, EEG abnor... |
ORPHA:1445 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Dysmetria |
OMIM:618384 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch... |
OMIM:614487 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile... |
OMIM:614104 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Developmental And Epileptic Encephalopathy 16 |
|
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... |
OMIM:615338 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Truncal ataxia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebel... |
OMIM:607346 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Seizure, EEG abnormality, Myoclonus, Spasticity |
OMIM:256730 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Cerebral palsy, Focal-onset seizure, Babinski sign, Spastic paraplegia, Spasticity, Hypertonia, L... |
OMIM:614067 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... |
ORPHA:314632 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Falls, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Spasticity |
OMIM:619224 |
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 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Clonus, Babinski sign, Progressive cerebellar ataxia, EEG abnormality, Dysphagia, Febrile seizure... |
OMIM:618868 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... |
OMIM:616281 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... |
OMIM:615859 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Febrile seizure outside the age of 3 months to 6 years, Aggressive behavior, Fixated interests, T... |
OMIM:617788 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... |
ORPHA:561854 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Babinski sign, H... |
OMIM:301058 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Chorea, Seizure, EEG abnormality, Focal impaired awareness seizur... |
OMIM:613970 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Limb ataxia, Dysme... |
OMIM:607136 |
Benign Occipital Epilepsy |
|
Focal impaired awareness seizure, EEG with occipital focal spike waves |
ORPHA:25968 |
Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Hypertonia, Myoclonus, Dysphagia, Spasticity |
OMIM:225753 |
Congenital Disorder Of Glycosylation, Type In |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
Pontocerebellar Hypoplasia Type 2 |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Simple febr... |
ORPHA:2524 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Generalized non-motor (absence) seizure, Focal motor seizure |
OMIM:615553 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi... |
ORPHA:306511 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Seizure, Myoclonus, Dysmetria |
OMIM:618251 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Abnormal nerve c... |
OMIM:619862 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Bilateral tonic-clonic seizure, Involuntary movements, Multifocal epileptiform discharges, Seizur... |
ORPHA:209370 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Thyrocerebrorenal Syndrome |
|
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
Pontocerebellar Hypoplasia, Type 1E |
|
EEG with burst suppression, Myoclonus |
OMIM:619303 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Cln5 Disease |
|
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Abnormal cent... |
ORPHA:228360 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls |
OMIM:203740 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619301 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Seizure, EEG ... |
ORPHA:1934 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus |
ORPHA:139485 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait dist... |
ORPHA:544254 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Seizure, Addictive a... |
ORPHA:399 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Oromotor apr... |
ORPHA:454887 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysphagia, Spast... |
ORPHA:391417 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Seizure, Stereotypical hand wringing, Hyperkinetic movements |
ORPHA:397933 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... |
OMIM:620166 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Developmental And Epileptic Encephalopathy 110 |
|
Continuous spike and waves during slow sleep, Chorea, Generalized non-motor (absence) seizure, Br... |
OMIM:620149 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Involuntary movements, Increased thet... |
ORPHA:98784 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Babinski sign, Seizure, EEG abnormality, Inappropriate behavior, Disinhibiti... |
OMIM:221770 |
Pontocerebellar Hypoplasia Type 4 |
|
Seizure, Hypertonia, Myoclonus |
ORPHA:166063 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... |
OMIM:618856 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, Hy... |
OMIM:619847 |
Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
Phosphoserine Aminotransferase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610992 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia |
ORPHA:324588 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Peho-Like Syndrome |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsi... |
OMIM:301107 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Spasticity |
OMIM:617284 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Febrile seizure (within the age range of 3 months to 6 years), Compulsive behaviors |
OMIM:266265 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Thyrocerebroretinal Syndrome |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor |
OMIM:203450 |
Hyperekplexia 4 |
|
Seizure, Hypertonia, Myoclonus, Hypsarrhythmia |
OMIM:618011 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Seizure, Abnormal nervous system electrophysiology |
OMIM:601780 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Atten... |
ORPHA:467166 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz... |
ORPHA:314911 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypsarrhythmia |
OMIM:619561 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl... |
OMIM:619302 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... |
OMIM:612949 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Athetosis, Seizure, Focal sensory seizure |
ORPHA:98809 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Athetosis, Seizure, Gait disturbance, Myoclonus, Loss of ambulation |
OMIM:618241 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Focal-onset seizure, Spasticity, Babinski sign, Bilateral tonic-clonic seizure with generalized o... |
OMIM:618770 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, EEG abnormality, Status ... |
ORPHA:529665 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality of extrapy... |
OMIM:607822 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykin... |
ORPHA:240103 |
Megalencephaly |
|
Atrial septal defect, Long penis, Macroorchidism |
ORPHA:2477 |
Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation |
DECIPHER:8 |
Myoclonus, Intractable, Neonatal |
|
Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
Fragile X Syndrome |
|
Joint laxity, Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse |
OMIM:300624 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Limb ataxia, Dysmetria, Hand tremor, Tongue fasciculations... |
ORPHA:276198 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus, Dysphagia |
ORPHA:324708 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Gait ataxia, Seizure, EEG with focal spikes, Gait imbalance |
ORPHA:488635 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizu... |
OMIM:618356 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Familial Or Sporadic Hemiplegic Migraine |
|
Involuntary movements, EEG with focal sharp waves, Focal motor seizure, Hemiparesis, EEG abnormal... |
ORPHA:569 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My... |
ORPHA:163921 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Febrile seizure (within the age range of 3 months to 6 years), Slurred speech, Ataxia, Gait distu... |
ORPHA:1349 |
Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
ORPHA:100973 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, EEG abnor... |
ORPHA:457205 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Developmental And Epileptic Encephalopathy 72 |
|
Infantile spasms, Inability to walk, Hypsarrhythmia, Hyperkinetic movements, Dysphagia |
OMIM:618374 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait |
OMIM:615031 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Fatigable weakness, Fatigable weakness of neck muscles, F... |
ORPHA:42 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fas... |
ORPHA:276435 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Seiz... |
ORPHA:464282 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:614483 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal clonic seizure, Loss of ambulatio... |
OMIM:617933 |
Microphthalmia, Isolated 4 |
|
Coloboma, Absent testis |
OMIM:613094 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Lissencephaly Due To Lis1 Mutation |
|
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Tetraplegia, Opisthotonus, Hy... |
ORPHA:95232 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity |
OMIM:618225 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Febrile se... |
OMIM:301069 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus, Anorexia |
ORPHA:99825 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Seizure, Typical absence seizure, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:576283 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi... |
ORPHA:401866 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Oculomotor apraxia,... |
OMIM:612716 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypsarrhyt... |
OMIM:619877 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Agg... |
OMIM:300912 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... |
ORPHA:457351 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Sei... |
ORPHA:363400 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Joint hypermobility |
OMIM:300143 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Alexander Disease Type I |
|
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Dysphagia, Palatal tremor |
ORPHA:363717 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101075 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Seizure, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Blepharospasm,... |
ORPHA:53351 |
Liang-Wang Syndrome |
|
Ataxia, Generalized non-motor (absence) seizure, Status epilepticus |
OMIM:618729 |
Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Aggressive behavior, Unsteady g... |
ORPHA:98761 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal pyramidal si... |
ORPHA:500180 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Athetosis, Ataxia, Bilateral tonic-clonic seizure |
OMIM:614559 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro... |
OMIM:617854 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Tetraparesis, Myoclonu... |
OMIM:618972 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... |
OMIM:613839 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... |
ORPHA:1020 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,... |
OMIM:618877 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Seizure, Myoclonus, EEG abnormality |
OMIM:300673 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Abnormal repetitive mannerisms, Ataxia, Nocturnal seizures, S... |
OMIM:619229 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, EEG abnormality, Brux... |
OMIM:618718 |
Sarcosinemia |
|
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Hypsarrhythmia, Seizure, Dysphagia, Limb hypertonia |
OMIM:617162 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia |
OMIM:250620 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Hypsarrhythmia, Abnormality of extrapyramidal mot... |
ORPHA:204 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Limb hyper... |
OMIM:620028 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, EEG w... |
OMIM:614498 |
Fragile X Syndrome |
|
Joint laxity, Macroorchidism, Mitral valve prolapse |
ORPHA:908 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G... |
OMIM:616640 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... |
OMIM:619580 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... |
OMIM:300672 |
Pyridoxal Phosphate-Responsive Seizures |
|
EEG with burst suppression, Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus |
ORPHA:79096 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, EEG with abnormally sl... |
ORPHA:98794 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Harel-Yoon Syndrome |
|
Inability to walk, Spasticity, Ataxia, Generalized non-motor (absence) seizure |
OMIM:617183 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Subependymal Nodular Heterotopia |
|
Interictal EEG abnormality, Focal-onset seizure, EEG with temporal focal spike waves, Seizure, EE... |
ORPHA:101030 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... |
ORPHA:488613 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... |
ORPHA:72 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Ataxia, Tonic seizure, Rigidity, Inability to walk, Repetitive compulsive ... |
OMIM:300260 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101078 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... |
OMIM:614207 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Joint hyperflexibility, Macroorchidism, Camptodactyly of finger |
ORPHA:776 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
Schindler Disease, Type I |
|
Seizure, Spasticity, Myoclonus |
OMIM:609241 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Gaucher Disease, Type Iii |
|
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Seizure, Spasticity, Myoclonic abse... |
OMIM:616034 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Se... |
ORPHA:101112 |
Periventricular Nodular Heterotopia 7 |
|
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure |
OMIM:617201 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity |
OMIM:618201 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:619989 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Seizure, Inappr... |
OMIM:103050 |
Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Hype... |
OMIM:272300 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im... |
OMIM:300607 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... |
OMIM:183090 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... |
ORPHA:282166 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... |
ORPHA:251347 |
Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Narp Syndrome |
|
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms |
ORPHA:644 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination... |
ORPHA:79264 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with... |
ORPHA:163681 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... |
OMIM:617798 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, EEG with abnormally slow frequencies, Inability to walk, Unsteady gait, Spastic tetrapleg... |
ORPHA:1947 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clonus, Seizure, Bradykinesia, Hyp... |
OMIM:617435 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Seiz... |
OMIM:615716 |
Dystonia 34, Myoclonic |
|
Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor |
OMIM:619724 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasci... |
OMIM:617281 |
Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Seizure, Myoclonus, Dysphagia |
ORPHA:97229 |
Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... |
OMIM:619983 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, Opisthotonus, Hypsarrhythm... |
OMIM:220120 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Upper ... |
ORPHA:457240 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor |
ORPHA:420485 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Fo... |
ORPHA:228346 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... |
ORPHA:91131 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... |
ORPHA:395 |
Clark-Baraitser syndrome |
|
Joint laxity, Macroorchidism |
OMIM:300602 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Lower limb spasticity, Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriat... |
ORPHA:363686 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Tremor, Inability to walk, Gait disturbance, Difficult... |
ORPHA:101077 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Tetraplegia, Spasticity, Fasciculations, Progressive spas... |
ORPHA:496641 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Rigidity, Abnormal pyramidal... |
ORPHA:199354 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Oromotor apraxia, Spasticity |
ORPHA:466934 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Seizure, Myoclonus |
OMIM:616158 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Gait ataxia, Titubation, Seizure, Clumsiness, Bradykinesia, Myoclonus, ... |
ORPHA:98768 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... |
ORPHA:280219 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
EEG with polyspike wave complexes, Epileptic spasm, Spastic tetraparesis, EEG with focal sharp wa... |
ORPHA:284417 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... |
OMIM:271900 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Hypertonia, Steppage gait, Spas... |
OMIM:609260 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetrapar... |
ORPHA:2203 |
Nicolaides-Baraitser Syndrome |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:3051 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
19P13.3 Microduplication Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Hyperacti... |
ORPHA:447980 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavio... |
OMIM:612313 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dysphagia, Limb hypertonia |
OMIM:233910 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Macroorchidism, Recurrent fractures, Osteomalacia, Elevated circ... |
ORPHA:562 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... |
OMIM:137440 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
Cog4-Cdg |
|
Complex febrile seizure, Ataxia, Limb hypertonia |
ORPHA:263501 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Hypsarrhythmia, Seizure, Myoclonus, Dysphagia |
OMIM:617669 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia |
OMIM:312170 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Dysphagia, Dystonia |
OMIM:304700 |
Paganini-Miozzo Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:301025 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia |
OMIM:618237 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... |
OMIM:620073 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia |
OMIM:619780 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures |
OMIM:149400 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Myoclonic seizure, Seizu... |
OMIM:618325 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Myoclonus, Hypsarrhythmia |
OMIM:619060 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Spastic paraparesis, Palatal tremor |
ORPHA:363722 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, Seizure, EEG abnormality, Ga... |
ORPHA:812 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus, Myoclonic seizure |
OMIM:618240 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG a... |
OMIM:618218 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Attention deficit hyperac... |
ORPHA:404440 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... |
ORPHA:79351 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho... |
OMIM:618451 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure |
OMIM:619239 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:609438 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, M... |
OMIM:615398 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Spastic tetraparesis, Ste... |
OMIM:619179 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes, Hypertonia, Focal impaired awarenes... |
ORPHA:163985 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... |
OMIM:614880 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoclonus, Inte... |
OMIM:616505 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... |
ORPHA:79279 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... |
OMIM:600721 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Hypertoni... |
OMIM:615802 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb ataxia, Progressive... |
ORPHA:284324 |
Chromosome 5Q12 Deletion Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:615668 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Rigidity, Head titubation, Babinski sign, Chor... |
OMIM:608804 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Unsteady gait, Limb tremor, Myoclonus, Difficulty walking, Head tremor |
ORPHA:420492 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Aggressive behavior, Self-injurious behavior, Seizure, EEG abnorma... |
ORPHA:468678 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia |
ORPHA:356 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, EEG w... |
ORPHA:544503 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism, Flexion contracture, Wrist flexion contracture |
OMIM:300055 |
Developmental And Epileptic Encephalopathy 101 |
|
Seizure, Myoclonus, Opisthotonus |
OMIM:619814 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Tremor, Inability to walk, Typical absence seizure,... |
ORPHA:845 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Self-injurious behavior, Seizure, ... |
OMIM:616078 |
Pontocerebellar Hypoplasia, Type 2E |
|
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... |
OMIM:615851 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... |
ORPHA:206594 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Generalized myoclonic seizure, Dysmetria, Seizure, Myoclonus, Dysp... |
ORPHA:93399 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Generalized-onset seizure, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cere... |
ORPHA:284289 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Tongue thrusting, Gen... |
ORPHA:77299 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Vocal cord paralysis, Hypsarrhythmia, Seizure, Myoclonus, Dysphagia, Spasticity |
ORPHA:500144 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ... |
OMIM:616672 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/ado... |
OMIM:620224 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Dysph... |
OMIM:128100 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, EEG with focal sharp... |
ORPHA:79243 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s... |
ORPHA:139396 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bruxism |
OMIM:612337 |
Unilateral Polymicrogyria |
|
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... |
ORPHA:268943 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Clonus, Incoordina... |
ORPHA:480864 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic paraparesis, Progressive... |
ORPHA:329308 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Tatton-Brown-Rahman Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:615879 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure, Gait imbalance |
OMIM:618120 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... |
OMIM:302800 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ... |
OMIM:603472 |
Mepan Syndrome |
|
Ataxia, Chorea, Gait disturbance, Myoclonus, Dysphagia, Spasticity |
ORPHA:508093 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin... |
ORPHA:171695 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Iris coloboma, Mitral valve prolapse |
OMIM:618874 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Inappropriate laughter, Bruxism, F... |
OMIM:156200 |
D-Glyceric Aciduria |
|
Seizure, Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis |
OMIM:619574 |
Dystonia-Aphonia Syndrome |
|
Unsteady gait, Seizure, Gait disturbance, Myoclonus, Dysphagia |
ORPHA:412217 |
Peho Syndrome |
|
Seizure, Myoclonus, Hypsarrhythmia |
OMIM:260565 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab... |
ORPHA:466943 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H... |
ORPHA:447997 |
Cog8-Cdg |
|
Seizure, Ataxia, Myoclonus |
ORPHA:95428 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Babinski sign, Seizure, Status epilepticus, ... |
ORPHA:364028 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Steppage gait, Gait disturbance, Tremor |
OMIM:118300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal defect,... |
OMIM:309520 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Shashi-Pena Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb hypertonia |
OMIM:617190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ataxia, Tremor, Gait ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 year... |
OMIM:300998 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... |
ORPHA:314655 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the ... |
OMIM:614837 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Abnormal peripheral action potential amplitude, Limb fasciculations, Inability to walk |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Neuraminidase Deficiency |
|
Seizure, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... |
OMIM:612953 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Focal motor seizure, Multifocal epileptiform discharges, Seizure, EEG abnormal... |
ORPHA:1675 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Athetosis, Seizure, S... |
OMIM:617302 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Self-mutilation |
ORPHA:453510 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait |
OMIM:616795 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Athetosis, Seizure, Focal imp... |
ORPHA:369929 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis,... |
ORPHA:268940 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, I... |
OMIM:619475 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized myoclonic seizure, Infantile spasms, Atonic seizure, Action tremor, Inability to walk... |
ORPHA:404454 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Tongue... |
OMIM:614969 |
Microcephaly, Amish Type |
|
Myoclonus, Limb hypertonia |
OMIM:607196 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,... |
OMIM:254900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Seizure, Spasticity, Myoclonus, EEG abnormality |
OMIM:246450 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Dysphagia, Loss of ambulation, Right hemi... |
OMIM:607426 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... |
ORPHA:445038 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Dysphagia, Abnormal... |
ORPHA:216866 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Generalized myoclonic seiz... |
OMIM:615501 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Bilateral tonic-clonic seizure |
OMIM:540000 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Death in childhood, Oculomotor apraxia |
OMIM:614867 |
Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Seizure, Hypertonia, Agitation, Myoclonus |
ORPHA:43116 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Hypsarrh... |
OMIM:618321 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Dpm1-Cdg |
|
Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Spasticity, Atonic ... |
ORPHA:79322 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Death in early adulthood, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Lo... |
OMIM:607694 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Bilateral tonic-clonic seizure, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia,... |
ORPHA:2131 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Prolidase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:170100 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Micropenis, Decr... |
OMIM:610628 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Weakness due to upper ... |
ORPHA:79139 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Tongue thrusting, Babinski sign, Limb tremor, Choreoat... |
OMIM:608643 |
Trisomy 20P |
|
Hypospadias, Camptodactyly of finger, Cryptorchidism, Reduced bone mineral density, Joint hyperfl... |
ORPHA:261318 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... |
ORPHA:206436 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus, Dysphagia |
OMIM:600072 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Seizure, Limb h... |
OMIM:618076 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Seizure, Myoclonus |
OMIM:614462 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... |
OMIM:605711 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... |
ORPHA:90790 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hemiparesis, Generalized-onset seizure, Dysphagia |
OMIM:615750 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Seizure, Difficul... |
ORPHA:481152 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Seizure, Pica, Generalized non-motor (absence) seizure |
OMIM:617360 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Seizure, Hyperkinetic movements, Gait disturbance, Spasticity |
OMIM:300957 |
Hatipoglu Immunodeficiency Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Slurred speech |
OMIM:620331 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Spasti... |
OMIM:616271 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:620237 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... |
OMIM:617988 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor... |
ORPHA:137898 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure, Fascicul... |
OMIM:268800 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Inability to walk... |
OMIM:617193 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
EEG abnormality, Seizure, Myoclonus, Myoclonic seizure |
OMIM:614946 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Seizure, Spasticity, Hypertonia, Myoclonus |
ORPHA:3078 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Chorea, Dysphagia, Gait ataxia, Titubation, Dystonia, Abnormal posturing |
ORPHA:225147 |
Huntington Disease-Like 1 |
|
Restlessness, Chorea, Dysmetria, Gait ataxia, Abnormal posturing |
ORPHA:157941 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... |
OMIM:277590 |
Microcephaly-Capillary Malformation Syndrome |
|
Seizure, Spastic tetraparesis, Myoclonus, Infantile spasms |
OMIM:614261 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first decade, Truncal ata... |
OMIM:300243 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:613026 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Generalized-onset seizure, Cerebral palsy, Infantile spasms, Focal-onset seizure, Poor gross moto... |
ORPHA:2148 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Generalized-onset seizure, Inability to walk, Babinski sign, Gait disturba... |
ORPHA:280229 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Seizure, Ataxia, Myoclonus |
OMIM:619167 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Seizure, Gait disturba... |
ORPHA:247262 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure... |
ORPHA:391428 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A... |
ORPHA:209905 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure |
ORPHA:96147 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, Increased theta f... |
ORPHA:459070 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Involuntary movements, Rigidity, Hypersexuality, Focal-onset seizure, ... |
ORPHA:217253 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence se... |
ORPHA:268261 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryp... |
ORPHA:432 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Loss of ability to walk in early childhood, Infantile spasms, Inabilit... |
OMIM:612073 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to ... |
OMIM:617799 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Loss of ambulation, Spasticity |
OMIM:620089 |
Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Opisthotonus, Seizure, Hypertonia, Febrile seizure (within the age range of... |
OMIM:614098 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, L... |
OMIM:208920 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizu... |
OMIM:618143 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myo... |
OMIM:620070 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk, Spastic tetraplegia, My... |
OMIM:614222 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... |
OMIM:229070 |
9P13 Microdeletion Syndrome |
|
Hand tremor, Myoclonus, Attention deficit hyperactivity disorder, Bruxism |
ORPHA:324313 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Pituitary hypothyroidism, Macroorchidism, Thyro... |
ORPHA:90674 |
Congenital Sialidosis Type 2 |
|
Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity |
ORPHA:93400 |
Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... |
OMIM:618733 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Seizure, Myoclonus, Gait ataxia |
ORPHA:70595 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor |
OMIM:607734 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Seizure, Hyperkinetic movements, Bruxism |
ORPHA:289522 |
Carney Complex |
|
Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility, Precocious puberty, O... |
ORPHA:1359 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... |
ORPHA:369837 |
Pelger-Huet Anomaly |
|
Seizure, Lower limb hypertonia, Bilateral tonic-clonic seizure |
OMIM:169400 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Seizure, Myoclonus |
OMIM:620167 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... |
ORPHA:464306 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, O... |
ORPHA:371428 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp... |
ORPHA:646 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
Eiken Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:600002 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Babinski sign, Seizure, Hyperkinetic movements, Spasticity |
OMIM:616420 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Seizure, Polyphagia, Myoclonus |
ORPHA:251004 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Dysphagia |
ORPHA:258 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Seizure, Broad-based gait, Convulsive status epilepticus |
OMIM:616716 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory acti... |
ORPHA:2388 |
Biotinidase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Spastic p... |
ORPHA:79241 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Seizure, Myoclonus, Tongue fasciculations |
OMIM:614922 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Whipple Disease |
|
Ataxia, Anorexia, Abnormal pyramidal sign, Seizure, Myoclonus, Polydipsia |
ORPHA:3452 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, Babinski sign, Limb hypertonia |
ORPHA:423479 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Anorexia, Spastic hemiparesis, Hypsarrhythmia, Seizure, EEG abnormality, Myoclonus, Spast... |
ORPHA:20 |
Shigellosis |
|
Febrile seizure (within the age range of 3 months to 6 years), Anorexia |
ORPHA:810 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysmetria, Myoclonic seiz... |
OMIM:615273 |
East Syndrome |
|
Salt craving, Ataxia, Generalized-onset seizure, Inability to walk, Seizure, Difficulty walking, ... |
ORPHA:199343 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Aymé-Gripp Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG abnormality |
ORPHA:1272 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:620141 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abno... |
ORPHA:464311 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Myoclonus |
OMIM:256700 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Seizure, Hyp... |
OMIM:615356 |
Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia |
ORPHA:2752 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... |
OMIM:301072 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Seizure, Gait disturbance, ... |
ORPHA:488627 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Parkinsonism, Abnormal auditory evoked potentials, Aggressive behavior, D... |
ORPHA:909 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... |
OMIM:620024 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Status epilepticus |
ORPHA:564178 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Decreased nerve conduction velocity, Sp... |
OMIM:609136 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus |
OMIM:619055 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto... |
OMIM:618249 |
Sialuria |
|
Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder |
ORPHA:3166 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Seizure, Progressive gait ataxia... |
OMIM:607459 |
Melas |
|
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hem... |
ORPHA:550 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Generalized joint laxity, Increased ... |
ORPHA:99330 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... |
OMIM:252160 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni... |
ORPHA:255210 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
ORPHA:2804 |
Hyper-Igd Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:260920 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,... |
OMIM:278800 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure, Limb hypertonia |
ORPHA:99742 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Seizure, Typical absence seizure |
OMIM:618343 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Immunodeficiency 23 |
|
Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, Dyston... |
OMIM:610217 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Developmental And Epileptic Encephalopathy 89 |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, EEG with burst suppressio... |
OMIM:619124 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Macroorchidism, Craniosynostosis, Joint ... |
ORPHA:744 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94090 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Disinhibition, Gait disturbance,... |
ORPHA:43 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Truncal ataxia, Ato... |
OMIM:620066 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Gen... |
OMIM:614756 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Fasciculations, Difficulty walking, Fr... |
ORPHA:329478 |
Autoimmune Hypoparathyroidism |
|
Myoclonic spasms, Hypocalcemic seizures |
ORPHA:36913 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... |
OMIM:203700 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Abnormal posturing |
OMIM:614857 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:606002 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Farber Disease |
|
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity |
ORPHA:333 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Inability to walk, Unsteady gait, Focal motor seizure, EEG abnormality, My... |
ORPHA:3063 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism, Joint hypermobility |
OMIM:619950 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, S... |
OMIM:615873 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Unsteady gait, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements,... |
ORPHA:17 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Ethylene Glycol Poisoning |
|
Ataxia, Slurred speech, Seizure, Addictive alcohol use, Myoclonus |
ORPHA:31826 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... |
OMIM:614947 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hyperactivity, Short stature |
OMIM:608747 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Inability to walk, Seizure, Hypertonia, Convulsive status epilepticus, Spasticity |
OMIM:608885 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Joubert Syndrome 1 |
|
Hemifacial spasm, Hyperactivity, Ataxia, Aggressive behavior, Oculomotor apraxia, Self-mutilation |
OMIM:213300 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms |
OMIM:252150 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Pgm3-Cdg |
|
Seizure, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca... |
OMIM:301044 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Tremor, Seizure, Ataxia, Bilateral tonic-clonic seizure |
OMIM:610505 |
Webb-Dattani Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:615926 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Difficulty walking... |
OMIM:617675 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Seizure, Spasticity, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure |
OMIM:301040 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... |
ORPHA:90068 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Generalized myoclonic seizure, Apraxia, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:99885 |
Oromandibular Dystonia |
|
Torticollis, Bruxism, Blepharospasm, Hyperkinetic movements, Dysphagia |
ORPHA:93958 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Fatigable weakness of skeletal muscles, Seizure, Hypertonia, Myoclonus, Fa... |
ORPHA:284339 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Epileptic spasm, Rigidity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Status e... |
ORPHA:2636 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b... |
OMIM:612474 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Hypogonadism, Vaginal atresia... |
OMIM:209900 |
Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus |
ORPHA:466677 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Hypsarrhythmia, Choreo... |
ORPHA:506 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... |
ORPHA:90793 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Typical absence seizure, Seizure, Bruxism |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Typical absence seizure, Seizure, Bruxism |
ORPHA:352665 |
Poliomyelitis |
|
Anorexia, Paralysis, Abnormal motor nerve conduction velocity, Inability to walk, Paraparesis, Hy... |
ORPHA:2912 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Microp... |
ORPHA:95699 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Aspartylglucosaminuria |
|
Macroorchidism, Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
Lathosterolosis |
|
Seizure, Myoclonus |
ORPHA:46059 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Ataxia, Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Apraxia |
ORPHA:77293 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia |
ORPHA:79124 |
Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia |
ORPHA:319213 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Tetraplegia |
OMIM:257300 |
Tick-Borne Encephalitis |
|
Speech apraxia, Generalized-onset seizure, Incoordination, Anorexia, Paralysis, Tremor, Focal-ons... |
ORPHA:297 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
X Small Rings |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure |
OMIM:261515 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:234100 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Tremor, Phonic tics, Dysphagia, Blepharospasm, Choreoathetosis, ... |
OMIM:234200 |
Autosomal Dominant Hypocalcemia |
|
Fatigable weakness, Cortical myoclonus |
ORPHA:428 |
Oliver Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2920 |
Listeriosis |
|
Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus |
ORPHA:533 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Epileptic spasm, Exaggerated startle response, Involuntary movements, Inability... |
ORPHA:438213 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Cystic Echinococcosis |
|
Ovarian cyst, Bone cyst, Abnormality of the testis size, Abnormal heart morphology |
ORPHA:400 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Falls,... |
ORPHA:447753 |
Aspartylglucosaminuria |
|
Joint laxity, Pathologic fracture, Macroorchidism |
OMIM:208400 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Tongue fasciculations, Spasticity |
OMIM:252010 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular sys... |
OMIM:300166 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hemiparesis, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:150230 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Seizure, Myoclonus, Tetraplegia |
OMIM:618278 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Poor coordination, Generalized non-m... |
ORPHA:821 |
Holoprosencephaly 14 |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:619895 |
Pseudohypoparathyroidism Type 1B |
|
Myoclonic spasms, Hypocalcemic seizures |
ORPHA:94089 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
Pseudohypoparathyroidism Type 1C |
|
Myoclonic spasms, Polyphagia, Hypocalcemic seizures |
ORPHA:79444 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Myoclonic seizure, Gait ataxia, Seizure, Violen... |
OMIM:280000 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Hyperkinetic movements, Polydipsia, Polyphagia |
ORPHA:525731 |
Gaucher Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Hemiplegia/hemiparesis, Oculomotor apraxia, Abnor... |
ORPHA:355 |
Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Choreoathetosis, Myoclonic spasms, Polyphagia, Hypocalcemic seizures |
ORPHA:79443 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Focal-onset seizure, Typical absence seizure, Atonic seizure |
OMIM:617157 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Spasticity, Generalized-onset seizure, Generalized non-motor (absence) seizure, Dysphagia |
ORPHA:500150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Seizure, Spasticity, Myoclonus, EEG abnormality |
OMIM:253280 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Vici Syndrome |
|
Postnatal growth retardation, Abnormal posturing, Dysphagia |
OMIM:242840 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Difficulty walking, Gait ataxia |
ORPHA:457359 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seiz... |
ORPHA:2495 |
Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure |
OMIM:614976 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Dysphagia, Ab... |
OMIM:300855 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility |
ORPHA:2714 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Self-injurious behavior, Seizure, Hypertonia, Hyperkinetic movements, Sp... |
ORPHA:468631 |
Doors Syndrome |
|
EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Focal-onset seizure, Bruxism, Seizure, Status epilep... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Inability to walk, Focal-onset seizure, Bruxism, Poor fine motor coordination, ... |
ORPHA:261537 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Hartsfield Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:615465 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Inability to walk, Focal-onset seizure, Bruxism, Poor fine motor coordination, ... |
ORPHA:261552 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility, Increased... |
ORPHA:881 |
Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure |
ORPHA:2751 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... |
OMIM:157170 |
Norrie Disease |
|
Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Optic atrophy, Erect... |
ORPHA:649 |
Pierson Syndrome |
|
Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr... |
OMIM:609049 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Remnants of the hyaloid vascular system, Lens coloboma, ... |
OMIM:619539 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Kabuki Syndrome 1 |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:147920 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Alström Syndrome |
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Incoordination, Ataxia, Typical absence seizure, Poor fine motor coordination, Polyphagia |
ORPHA:64 |