Juvenile Myoclonic Epilepsy |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:307 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
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Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Myoclonic Epilepsy Of Infancy |
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Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... |
ORPHA:86909 |
Female Restricted Epilepsy With Intellectual Disability |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
Episodic Ataxia, Type 5 |
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Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... |
OMIM:613855 |
Major Depressive Disorder |
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Depression |
OMIM:608516 |
Major Affective Disorder 1 |
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Depression, Mania |
OMIM:125480 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Continuous spike and waves during slow sleep, Seizure, Febrile seizure (within the age range of 3... |
OMIM:301008 |
Developmental And Epileptic Encephalopathy 94 |
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Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
Continuous Spikes And Waves During Sleep |
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Myoclonic absence seizure, Speech apraxia, EEG with frontal focal spike waves, Focal hemiclonic s... |
ORPHA:725 |
Epilepsy With Eyelid Myoclonia |
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Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 9 |
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Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
Perioral Myoclonia With Absences |
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Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... |
ORPHA:139426 |
Developmental And Epileptic Encephalopathy 43 |
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Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hypsarrhyt... |
OMIM:617113 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
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Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... |
OMIM:618357 |
Epilepsy, Myoclonic Juvenile |
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Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... |
OMIM:254770 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 24 |
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Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... |
OMIM:615871 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... |
OMIM:613608 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
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Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Benign Familial Infantile Epilepsy |
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Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... |
OMIM:254800 |
Juvenile Absence Epilepsy |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
Landau-Kleffner Syndrome |
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Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, ... |
ORPHA:98818 |
Myoclonic Epilepsy, Familial Infantile |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... |
OMIM:605021 |
Developmental And Epileptic Encephalopathy 56 |
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Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, EEG with p... |
OMIM:617665 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
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Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... |
OMIM:619964 |
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
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Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
Epilepsy, Familial Adult Myoclonic, 4 |
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Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 26 |
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Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Hypsarrhythmia, ... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 13 |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:607681 |
Epilepsy, Familial Adult Myoclonic, 1 |
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EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
Unilateral Focal Polymicrogyria |
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EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral... |
ORPHA:268947 |
Epilepsy, Progressive Myoclonic, 6 |
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Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spi... |
OMIM:614018 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611364 |
Epilepsy, Familial Temporal Lobe, 1 |
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Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
Lennox-Gastaut Syndrome |
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Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 32 |
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Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Seizure, Febrile seizure (within t... |
OMIM:616366 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
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Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
Developmental Delay With Or Without Epilepsy |
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Ataxia, EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Spastic gait, Seizure, Gene... |
OMIM:620540 |
Developmental And Epileptic Encephalopathy 33 |
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Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Aggressive ... |
OMIM:616409 |
Infantile Convulsions And Choreoathetosis |
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Involuntary movements, Seizure, Complex febrile seizure, Chorea, Focal-onset seizure, Focal impai... |
ORPHA:31709 |
Developmental And Epileptic Encephalopathy 19 |
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Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615744 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Chorea, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Gait ataxia,... |
OMIM:618587 |
Lissencephaly 10 |
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Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
Developmental And Epileptic Encephalopathy 31A |
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Self-injurious behavior, Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to wal... |
OMIM:616346 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
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Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... |
OMIM:609446 |
Myoclonic Epilepsy, Hartung Type |
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Generalized myoclonic seizure |
OMIM:159600 |
Intellectual Developmental Disorder, X-Linked 89 |
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Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
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Generalized non-motor (absence) seizure |
OMIM:612269 |
Developmental And Epileptic Encephalopathy 52 |
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Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... |
OMIM:617350 |
Epilepsy, Idiopathic Generalized |
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Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... |
ORPHA:36387 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
Epilepsy, Familial Temporal Lobe, 8 |
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Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
Epilepsy, Familial Temporal Lobe, 5 |
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EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... |
OMIM:614417 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
Epilepsy, Progressive Myoclonic 7 |
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Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... |
OMIM:616187 |
Myoclonic-Atonic Epilepsy |
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Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp... |
OMIM:616421 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
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Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia |
OMIM:208700 |
Infantile Spasms Syndrome |
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Hypsarrhythmia, Infantile spasms, Myoclonus |
ORPHA:3451 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 15 |
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Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsa... |
OMIM:615006 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
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Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive... |
OMIM:619157 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
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Aggressive behavior, Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Dravet Syndrome |
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Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism... |
ORPHA:33069 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
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Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... |
OMIM:615400 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
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Involuntary movements, Aggressive behavior, EEG abnormality, Bilateral tonic-clonic seizure, Moto... |
OMIM:617171 |
Dravet Syndrome |
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Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... |
OMIM:607208 |
Developmental And Epileptic Encephalopathy 67 |
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Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... |
OMIM:618141 |
Febrile Seizures, Familial, 4 |
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Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
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Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
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Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
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Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
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Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Lower limb spas... |
OMIM:619639 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,... |
OMIM:245570 |
Rolandic Epilepsy |
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EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave... |
ORPHA:1945 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
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Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
Progressive Myoclonic Epilepsy Type 3 |
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Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:263516 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Bilateral tonic... |
OMIM:608636 |
Benign Familial Neonatal Epilepsy |
|
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal EEG discharges with secondary ge... |
ORPHA:1949 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... |
OMIM:615697 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... |
ORPHA:98820 |
Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten... |
ORPHA:308 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Myoclonus, Loss of ambulation, EEG abnormality, Ataxia |
OMIM:600143 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... |
OMIM:617391 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Ataxia, Spasticity, Generalized myoclonic seizure, Focal im... |
ORPHA:599373 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... |
OMIM:617935 |
Febrile Seizures, Familial, 9 |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Febrile seizure... |
OMIM:611634 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, EEG abnormality, Bilateral tonic-clonic seizure, Restlessness, Focal impaired awarene... |
OMIM:610003 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Myoclonic absence seizure, Myoclonic seizure, Atypical absence seizure, Multifocal epileptiform d... |
OMIM:618596 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
OMIM:617188 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... |
OMIM:612736 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614280 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
Epilepsy, Progressive Myoclonic, 11 |
|
Giant somatosensory evoked potentials, Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
Epilepsy, Familial Temporal Lobe, 7 |
|
Focal sensory seizure with auditory features |
OMIM:616436 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... |
OMIM:271980 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism... |
OMIM:162350 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure |
OMIM:612437 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:618482 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... |
ORPHA:2590 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... |
ORPHA:79137 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Spastic tetraplegia, Myoclonic seizure, Continuous spike and waves during slow sleep, Gen... |
OMIM:619913 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Truncal ataxia, Gait disturbanc... |
OMIM:616230 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Generalized non-motor (absence) seizure, Seizure, Chorea, Aggressive behav... |
ORPHA:98811 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Bilateral ton... |
OMIM:619191 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Atypical absence seizure, Generalized my... |
OMIM:617771 |
Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure... |
OMIM:617904 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis |
OMIM:300388 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
Seizures, Benign Familial Infantile, 5 |
|
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Spasticity, Febrile seizure (within the age range of 3 months to 6 years... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 11 |
|
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... |
OMIM:613721 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... |
OMIM:619000 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
Developmental And Epileptic Encephalopathy 12 |
|
Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal... |
OMIM:613722 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Early Myoclonic Encephalopathy |
|
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Hypsarrhythmia, EEG abnormality... |
ORPHA:1935 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic ... |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Myoclonus, Gait ataxia, Foca... |
OMIM:620145 |
Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Myoclonus, Torticollis, Spinal myoclonus, Compulsive behaviors |
ORPHA:36899 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, EEG abnormality, Bilateral tonic-clonic seizure, Ata... |
OMIM:617836 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gait a... |
OMIM:617810 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Epilepsy, Familial Temporal Lobe, 4 |
|
Focal aware seizure, Focal impaired awareness seizure, Focal sensory seizure with visual features |
OMIM:611631 |
Developmental And Epileptic Encephalopathy 60 |
|
Spastic tetraplegia, Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, EEG with bur... |
OMIM:617929 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... |
OMIM:121200 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus, Restless legs |
OMIM:102300 |
Epilepsy, Progressive Myoclonic, 9 |
|
Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Fre... |
OMIM:616540 |
Centralopathic Epilepsy |
|
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit... |
OMIM:117100 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Abnormal nervous system electrophysiology, Myoclonus, Seizure, Ataxia |
OMIM:204500 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Stereo... |
ORPHA:289266 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor |
OMIM:611092 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Generalized myoclonic seizure, Seizure, Chorea, Abnormality of e... |
ORPHA:382 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizur... |
OMIM:608105 |
Dystonia 11, Myoclonic |
|
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Compulsive behaviors |
OMIM:159900 |
Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, ... |
ORPHA:352582 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Status epi... |
OMIM:618285 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, EEG abnormality, Ataxia |
OMIM:617829 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot... |
OMIM:204300 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617643 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis |
OMIM:612621 |
Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... |
OMIM:616139 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Developmental And Epileptic Encephalopathy 98 |
|
EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Attention deficit... |
OMIM:619605 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Attention deficit hyperactivity disorder, EEG with generalized epilept... |
ORPHA:35878 |
Obsessive-Compulsive Disorder |
|
Compulsive behaviors, Skin-picking, Depression, Collectionism |
OMIM:164230 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism, Myoclonus |
OMIM:606840 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... |
ORPHA:363549 |
Developmental And Epileptic Encephalopathy 108 |
|
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... |
OMIM:620115 |
Dentatorubral-Pallidoluysian Atrophy |
|
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis |
OMIM:125370 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu... |
ORPHA:163721 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:620379 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Difficulty walki... |
ORPHA:512260 |
Developmental And Epileptic Encephalopathy 93 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to wa... |
OMIM:618012 |
Developmental And Epileptic Encephalopathy 91 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... |
OMIM:617711 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure,... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... |
OMIM:617389 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Spasticity, Seizure, Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Self-injurious behavior, Seizure, Myoclonus, Aggressive behavior, Limb tremor, Focal tonic seizur... |
OMIM:300699 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure |
OMIM:618425 |
Myoclonus, Familial, 2 |
|
Limb myoclonus, Seizure |
OMIM:618364 |
Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... |
OMIM:616981 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Generalized-onset seizure, Focal sensory seizure, Infantile spasms, Paroxysmal choreoathetosis, F... |
OMIM:602066 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Spasticity, Seizure, Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... |
OMIM:266100 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure |
OMIM:545000 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:618412 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Spasticity, Seizure, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dysphagia, Status epilepti... |
OMIM:620448 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,... |
OMIM:617106 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Severe temper tantrums, Attention deficit hyperactivity disorder, Seizure, Febrile seizure (withi... |
OMIM:618402 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, EEG abnormality, Bila... |
OMIM:614322 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ... |
ORPHA:95434 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Inability to w... |
OMIM:619735 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia |
OMIM:615924 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ... |
ORPHA:477673 |
Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes... |
ORPHA:64280 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s... |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 34 |
|
Seizure, Inability to walk, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,... |
OMIM:616645 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, EEG abnormality, Ataxia, C... |
OMIM:606777 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Spasticity, Seizure, Generalized-onset seizure, Inability to walk, Ankle clonus, Babinski sign, H... |
OMIM:616657 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,... |
OMIM:611726 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... |
ORPHA:79262 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Gait disturbance, Hyp... |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... |
OMIM:615516 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, EEG with irregular generalized spike and wave complexes, Atonic seizure, Generalized non-... |
ORPHA:1942 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Motor stereotypy |
OMIM:300425 |
Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... |
ORPHA:101071 |
Benign Familial Neonatal-Infantile Seizures |
|
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... |
ORPHA:140927 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive trait, Ata... |
ORPHA:168491 |
Pyridoxine-Dependent Epilepsy |
|
Focal aware motor seizure, EEG with generalized epileptiform discharges, Focal myoclonic seizure,... |
ORPHA:3006 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Loss of ambulation, Clu... |
OMIM:256731 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure |
OMIM:104290 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:614499 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Spasticity, Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior,... |
ORPHA:208441 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Seizure, Hyperactivity |
ORPHA:436151 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Freque... |
OMIM:301020 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:607745 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Seizure, Epileptic spasm, EEG with burst suppression, Myoclonus, Attention deficit hyperactivity ... |
OMIM:619971 |
Obesity, Hyperphagia, And Developmental Delay |
|
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure |
OMIM:613886 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Bilateral toni... |
OMIM:619028 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... |
OMIM:619338 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... |
OMIM:607317 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson... |
OMIM:605407 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Episodic Ataxia, Type 9 |
|
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e... |
OMIM:618924 |
Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... |
OMIM:619565 |
Glycine Encephalopathy 1 |
|
Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Seizure, Myoclonus, Hypsarrhythmia, Spastic tetraparesis, Choreoathetosis |
OMIM:617065 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Spasticity, Myoclonic seizure, Seizure, Inability to walk, Epileptic spa... |
OMIM:614254 |
Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Difficulty walking, Loss of ambulation, Tetraplegia, Ataxia, Slurred speech,... |
ORPHA:206443 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spas... |
ORPHA:208447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure |
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 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Int... |
OMIM:620208 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Re... |
OMIM:617600 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Bruxism, Myoclonus, Stereotypical... |
OMIM:618497 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
|
Seizure, Infantile spasms, Tonic seizure, Unsteady gait, Focal impaired awareness seizure |
OMIM:617601 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Seizure, Generalized-onset seizure, Self-mutilation, Hemiparesis, Aggressive behavior, EEG abnorm... |
OMIM:604317 |
Salt And Pepper Developmental Regression Syndrome |
|
Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus... |
OMIM:609056 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Compulsive behaviors, Myoclonus, Agitation, Tremor |
OMIM:619651 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Spasticity, Inability to walk, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:619701 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impair... |
OMIM:300423 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Seizure |
OMIM:300271 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramidal dyskinesi... |
ORPHA:71277 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... |
ORPHA:65683 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Spinocerebellar Ataxia Type 37 |
|
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... |
ORPHA:363710 |
Developmental And Epileptic Encephalopathy 63 |
|
Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Cerebral palsy, General... |
OMIM:617976 |
New-Onset Refractory Status Epilepticus |
|
Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo... |
ORPHA:363558 |
Hemimegalencephaly |
|
Hemihypsarrhythmia, Seizure, EEG with focal sharp slow waves, Interictal EEG abnormality, Epilept... |
ORPHA:99802 |
Progressive Myoclonic Epilepsy With Dystonia |
|
EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizure, Hemiplegi... |
ORPHA:352596 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia, Gait disturbance, EEG abnormality |
OMIM:618193 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Chorea, Stereotypical ... |
OMIM:618760 |
Dystonia 23 |
|
Head tremor, Gait disturbance, Myoclonus, Torticollis |
OMIM:614860 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized... |
ORPHA:101070 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Generalized non-motor (absence) seizure, Difficulty walking, Babinski sign, Ataxia |
OMIM:618242 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Mo... |
OMIM:500003 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl... |
OMIM:619854 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Se... |
OMIM:619827 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Aggressive behavior, Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz... |
OMIM:619616 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Motor stereotypy, Bilateral ... |
OMIM:617862 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... |
ORPHA:726 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor |
OMIM:314250 |
Combined Saposin Deficiency |
|
Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure |
OMIM:611721 |
Malignant Migrating Focal Seizures Of Infancy |
|
Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure with focal ... |
ORPHA:293181 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... |
OMIM:615476 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Seizure, Myoclonus, Tremor, Hypertonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
Rasmussen Subacute Encephalitis |
|
Hemiparesis, Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Focal se... |
ORPHA:1929 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Focal impaired awareness seizure, Seizure, Difficulty walking, Inability to walk, Focal-onset sei... |
ORPHA:330050 |
L-Ferritin Deficiency |
|
Generalized-onset seizure, Restless legs |
OMIM:615604 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... |
ORPHA:411986 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Spasticity, Involuntary movements, Chorea, Infantile spasms, Hyperkineti... |
OMIM:617493 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myocl... |
ORPHA:79263 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait |
OMIM:620317 |
Epilepsy, Hot Water, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:613339 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia |
OMIM:619065 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... |
OMIM:158580 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress... |
OMIM:618010 |
Behavioral Variant Of Frontotemporal Dementia |
|
EEG with continuous slow activity, Restrictive behavior, Inappropriate behavior, Fasciculations, ... |
ORPHA:275864 |
Abeta Amyloidosis, Arctic Type |
|
Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:324723 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Gait disturbance, Bila... |
ORPHA:100988 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
EEG abnormality, Spasticity, Generalized myoclonic seizure, Febrile seizure (within the age range... |
OMIM:617873 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Attention deficit hyperactivi... |
OMIM:619725 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Myoclonic seizure, Generalized-onset seizure, Infantile spasms, Hypsarrhythmia, Hypertonia, Spast... |
OMIM:618677 |
Hereditary Geniospasm |
|
Chin myoclonus |
ORPHA:53372 |
Developmental And Epileptic Encephalopathy 47 |
|
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth... |
OMIM:617166 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Tics, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:619264 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Kohlschutter-Tonz Syndrome |
|
Spasticity, Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, F... |
OMIM:226750 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypertonia, Myoclonus, Seizure |
OMIM:610090 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Dysphagi... |
OMIM:159950 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Generalized non-motor (absence) seizure, Clumsiness, Aggressive behavior, Hyperactivity,... |
OMIM:300558 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis |
OMIM:123400 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Atypical Rett Syndrome |
|
Spasticity, Loss of ambulation, Involuntary movements, Neonatal seizure, Limb myoclonus, Inabilit... |
ORPHA:3095 |
Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... |
OMIM:619428 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si... |
ORPHA:254343 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Par... |
ORPHA:53583 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE... |
ORPHA:313772 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... |
OMIM:615637 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
Hyperprolinemia Type 2 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure... |
ORPHA:79101 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension |
OMIM:300706 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short stature, Hyperactivity |
DECIPHER:19 |
Hyperprolinemia, Type I |
|
Seizure, Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy, Status ep... |
OMIM:239500 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tongue fasciculations, Seizure, Generalized non-motor (absence) seizure, Dysmetria, Babinski sign... |
OMIM:618170 |
Juvenile Huntington Disease |
|
Broad-based gait, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Hyperactivity, Ataxia, Brady... |
ORPHA:248111 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... |
OMIM:612016 |
Developmental And Epileptic Encephalopathy 1 |
|
EEG with burst suppression, Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyrami... |
OMIM:308350 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Ankle clonus, Dysphagia, Hand tremor, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:280384 |
Lissencephaly 3 |
|
Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia |
OMIM:611603 |
3-Methylglutaconic Aciduria, Type I |
|
Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Self-mutilation, Ataxi... |
OMIM:250950 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Falls, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of... |
ORPHA:13 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Generalized non-motor (absence) seizure, Self-mutilation, Polyphagia, Aggressive behavior, Focal ... |
OMIM:616521 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, EEG with... |
OMIM:612164 |
Lafora Disease |
|
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ... |
ORPHA:501 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Inappropr... |
OMIM:614104 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... |
OMIM:614487 |
Developmental And Epileptic Encephalopathy 16 |
|
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil... |
OMIM:615338 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi... |
OMIM:607346 |
Developmental And Epileptic Encephalopathy 28 |
|
Ataxia, Spasticity, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epile... |
OMIM:616211 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Ataxia, Dysmetria, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:618384 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Cerebral palsy, Febrile seizure (within the age range of 3 months... |
OMIM:614067 |
Ring Chromosome 21 Syndrome |
|
Spasticity, Seizure, Bilateral tonic-clonic seizure with generalized onset, Gait disturbance, EEG... |
ORPHA:1445 |
Foxg1 Syndrome |
|
Spasticity, Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-on... |
ORPHA:561854 |
Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... |
ORPHA:391411 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G... |
OMIM:600795 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... |
ORPHA:314632 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clonic seizure |
OMIM:618470 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Ataxia, Spasticity, Falls, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:619224 |
Developmental And Epileptic Encephalopathy 23 |
|
Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni... |
OMIM:615859 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... |
OMIM:619911 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Febrile seizure (within the age range of 3 months to 6 years), Babinski sign, Clonus, EEG abnorma... |
OMIM:618868 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Hyperlysinemia, Type I |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Clumsiness, Hyperactivity... |
OMIM:238700 |
Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Myoclonic seizure, Tetraparesis, Inability to walk, Epileptic spasm, Status epileptic... |
OMIM:617105 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp... |
OMIM:616281 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis... |
OMIM:204200 |
Developmental And Epileptic Encephalopathy 90 |
|
EEG with burst suppression, Focal-onset seizure, Ankle clonus, Babinski sign, Hypsarrhythmia, Lim... |
OMIM:301058 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Fixated interests, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand ... |
OMIM:617788 |
Pontocerebellar Hypoplasia Type 2 |
|
Spasticity, Seizure, Upper limb hypertonia, Oral-pharyngeal dysphagia, Infantile spasms, Babinski... |
ORPHA:2524 |
Dystonia 22, Juvenile-Onset |
|
Dysdiadochokinesis, Dysmetria, Lower limb spasticity, Bilateral tonic-clonic seizure, Torticollis... |
OMIM:620453 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Seizure, Gait imbalance, Bilateral tonic-clonic seizure with generalized onset,... |
ORPHA:98795 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis |
OMIM:617082 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Seizure, Myoclonus, EEG abnormality, Ataxia |
OMIM:256730 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Aggr... |
OMIM:607136 |
Benign Occipital Epilepsy |
|
EEG with occipital focal spike waves, Focal impaired awareness seizure |
ORPHA:25968 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, EEG abnormality, Bilateral tonic-c... |
OMIM:613970 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Seizure, Myoclonus, Hypertonia, Dysphagia |
OMIM:225753 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Myoclonus, Seizure, Ataxia |
OMIM:612015 |
Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Pitt-Hopkins-Like Syndrome 1 |
|
Spasticity, Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:610042 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Dysmetria, Myoclonus, Seizure |
OMIM:618251 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,... |
ORPHA:306511 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:617290 |
Hartnup Disorder |
|
Seizure, Episodic ataxia, Generalized tonic seizure, Attention deficit hyperactivity disorder, Hy... |
OMIM:234500 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, To... |
OMIM:619862 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus, Seizure |
ORPHA:166063 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Spasticity, Involuntary movements, Seizure, EEG with focal slow activity, Bilateral tonic-clonic ... |
ORPHA:209370 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Pontocerebellar Hypoplasia, Type 1E |
|
EEG with burst suppression, Myoclonus |
OMIM:619303 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech |
ORPHA:3327 |
Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Oxoglutarate Dehydrogenase Deficiency |
|
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait |
OMIM:203740 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Clonus, Bradykinesia, Poor fine motor ... |
ORPHA:399 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Early Infantile Epileptic Encephalopathy |
|
Spasticity, Hypsarrhythmia, Choreoathetosis, Self-injurious behavior, Generalized non-motor (abse... |
ORPHA:1934 |
Developmental And Epileptic Encephalopathy 102 |
|
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... |
OMIM:619881 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia, Gonadal dysgenesis |
OMIM:615041 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Eating-induced se... |
ORPHA:544254 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:139485 |
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Involuntary movements, Seizure, Difficulty walking, Abnormality of coordination, Myoc... |
ORPHA:442835 |
Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu... |
OMIM:618093 |
Hsd10 Disease |
|
Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Dysphagia, C... |
ORPHA:391417 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Self-injurious behavior, Seizure, Stereotypical hand wringing |
ORPHA:397933 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Att... |
ORPHA:98784 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Focal hemiclonic seizure, Hypsarrhythmia, Dysphagia, EEG with generalized epileptiform discharges... |
OMIM:616973 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Inappropriate behavior, Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia, Ag... |
OMIM:221770 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure, Loss of am... |
OMIM:620166 |
Developmental And Epileptic Encephalopathy 110 |
|
Spasticity, Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure... |
OMIM:620149 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
Dystonia 6, Torsion |
|
Myoclonus, Torticollis |
OMIM:602629 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Bilateral ton... |
OMIM:618856 |
Hyperekplexia 4 |
|
Seizure, Infantile spasms, Myoclonus, Hypsarrhythmia, Hypertonia |
OMIM:618011 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia |
ORPHA:324588 |
Peho-Like Syndrome |
|
Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:617507 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Spastic tetraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:619847 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Retrocollis, Myoclonus, Tremor, Gait disturbance, Torticollis |
OMIM:617284 |
Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus, Seizure |
OMIM:610992 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Spasticity, Cerebral palsy, Seizure, Aggressive behavior, Hyperactivity, Compulsive ... |
OMIM:301107 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG ... |
ORPHA:529665 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... |
OMIM:619092 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia |
ORPHA:3000 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia With Epilepsy |
|
Dysdiadochokinesis, Myoclonus, EEG with occipital epileptiform discharges, Dysmetria, Gait ataxia... |
ORPHA:254881 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Compulsive behaviors, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:266265 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Hypsarrhythmia, Tremor |
OMIM:619561 |
Alexander Disease |
|
Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor |
OMIM:203450 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... |
OMIM:610539 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto... |
OMIM:619301 |
Tubulinopathy-Associated Dysgyria |
|
Generalized non-motor (absence) seizure, Infantile spasms, Startle-induced seizure, Attention def... |
ORPHA:467166 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
Thyrocerebroretinal Syndrome |
|
Myoclonus, Slurred speech, Seizure, Ataxia |
OMIM:274240 |
Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Hypertonia, Typical absence seizure, Bilateral tonic-clonic seizure, Motor tics |
OMIM:620688 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Babinski sign, Apr... |
ORPHA:93952 |
Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Tetraparesis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Loss of ambulation... |
ORPHA:225154 |
Aminoacylase 1 Deficiency |
|
Bilateral tonic-clonic seizure, Hyperactivity, Seizure |
OMIM:609924 |
Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Seizure, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance, Athetosis |
OMIM:618241 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Seizure, Chorea, Focal sensory seizure, Athetosis |
ORPHA:98809 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Spasti... |
OMIM:618770 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... |
OMIM:612949 |
Alzheimer Disease 3 |
|
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Apraxia, Optic a... |
OMIM:607822 |
Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto... |
OMIM:619302 |
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12 |
|
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:620461 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Familial Or Sporadic Hemiplegic Migraine |
|
Tongue fasciculations, Involuntary movements, Facial paralysis, Alien limb phenomenon, EEG with g... |
ORPHA:569 |
Severe Canavan Disease |
|
Spasticity, Seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Bilateral tonic... |
ORPHA:314911 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... |
ORPHA:240103 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Impaired oral bolus formation, Myoclonus, Athetosis, Dysphagia, Clonic seizure |
OMIM:617235 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... |
ORPHA:276198 |
Spinocerebellar Ataxia 50 |
|
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia |
OMIM:620158 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Myoclonus, Seizure, Ataxia |
OMIM:620094 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus, Dysphagia |
ORPHA:324708 |
Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Pa... |
OMIM:606693 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,... |
OMIM:606703 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Gait imbalance, Gait ataxia, Bilateral tonic-clonic seizure, EEG with focal spikes |
ORPHA:488635 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure |
OMIM:616033 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Seizure, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, Babinski si... |
OMIM:618356 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto... |
ORPHA:401866 |
Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... |
ORPHA:276193 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Megalencephaly |
|
Macroorchidism, Long penis, Atrial septal defect |
ORPHA:2477 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... |
OMIM:309548 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Smith-Magenis syndrome |
|
Short stature, Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Posttransplant Acute Limbic Encephalitis |
|
EEG with abnormally slow frequencies, Seizure, Myoclonus, Ataxia, EEG with focal epileptiform dis... |
ORPHA:163921 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... |
OMIM:618354 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... |
ORPHA:314978 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Gait disturbance, Slurred speech, Febrile seizure (within the age range of 3 months to 6 ... |
ORPHA:1349 |
Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action potential ampl... |
ORPHA:457205 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Infantile spasms, Hyperkinetic movements, Hypsarrhythmia, Dysphagia |
OMIM:618374 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Impulsivity... |
ORPHA:100973 |
Nipah Virus Disease |
|
Tremor, Myoclonus, Seizure, Anorexia |
ORPHA:99825 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait |
OMIM:615031 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse, Joint hypermobility |
OMIM:300624 |
Developmental And Epileptic Encephalopathy 61 |
|
Spasticity, Seizure, Focal clonic seizure, Loss of ambulation, Bilateral tonic-clonic seizure wit... |
OMIM:617933 |
Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Fasciculations |
OMIM:615048 |
Hereditary Hyperekplexia |
|
Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Gait disturbance, Hypertonia, Ataxia |
ORPHA:3197 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Fatigable weak... |
ORPHA:42 |
Chromosome Xq13 Duplication Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... |
OMIM:301069 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
Lissencephaly Due To Lis1 Mutation |
|
Focal impaired awareness seizure, Seizure, Infantile spasms, EEG with spike-wave complexes, EEG w... |
ORPHA:95232 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Attention deficit hyperactivity disorder, Typical absence seizure, Dysphagia, Seizure |
ORPHA:576283 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia |
OMIM:618225 |
Caribbean Parkinsonism |
|
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ... |
ORPHA:97355 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali... |
OMIM:618067 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... |
ORPHA:251282 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:620200 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Myoclonic seizure, Inability to walk, Epileptic spasm, Hypsarrhythmia, Hypertonia, Bilateral toni... |
OMIM:619877 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... |
ORPHA:397946 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... |
ORPHA:276435 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnor... |
ORPHA:363400 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Alexander Disease Type I |
|
Spasticity, Seizure, Abnormal pyramidal sign, Ataxia, Dysphagia, Palatal tremor |
ORPHA:363717 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Ataxia, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, In... |
OMIM:300912 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Difficulty walking,... |
ORPHA:464282 |
Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia |
OMIM:128235 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Spasticity, Seizure, Generalized non-motor (absence) seizure, Inability ... |
ORPHA:457351 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
Systemic Primary Carnitine Deficiency |
|
Clumsiness, Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... |
ORPHA:521406 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Multifocal epileptiform discharges, Focal-... |
OMIM:618972 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Seizure, Inability to walk, Chorea, Gait ataxia, Abnormality of extrapyramidal motor ... |
ORPHA:500180 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Seizure, Abnormality of extrapyramidal motor function |
OMIM:604218 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor |
OMIM:302500 |
Spinocerebellar Ataxia Type 10 |
|
EEG with generalized epileptiform discharges, Focal impaired awareness seizure, Dysdiadochokinesi... |
ORPHA:98761 |
X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... |
ORPHA:53351 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia |
OMIM:614559 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia |
OMIM:618729 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Seizure, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, ... |
OMIM:618877 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Broad-based gait, Seizure, Inability to walk, Myoclonus, Clumsiness, Attention defici... |
OMIM:617854 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,... |
OMIM:613839 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Seizure, Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia,... |
ORPHA:1020 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Myoclonus, EEG abnormality, Seizure, Rigidity |
OMIM:300673 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... |
OMIM:615528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Tetraparesis |
ORPHA:3129 |
Developmental And Epileptic Encephalopathy 46 |
|
Seizure, Generalized-onset seizure, Tremor, Hypsarrhythmia, Limb hypertonia, Dysphagia |
OMIM:617162 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Spasticity, Seizure, Inability to walk, Bruxism, Tremor, Paroxysmal burs... |
OMIM:618718 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hypertonia, Bilateral tonic-clonic se... |
OMIM:620028 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Generalized myoclonic seizure, EEG with burst suppression, Rigidity, Babinski sign, Clonus, Limb ... |
OMIM:614498 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
EEG with generalized epileptiform discharges, Seizure, Inability to walk, Limb hypertonia, EEG ab... |
ORPHA:488613 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Joint hypermobility |
OMIM:300143 |
Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... |
ORPHA:204 |
Developmental And Epileptic Encephalopathy 79 |
|
Migrating focal seizure, Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure w... |
OMIM:618559 |
Developmental Delay, Dysmorphic Facies, And Brain Anomalies |
|
Chorea, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:620535 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni... |
OMIM:616640 |
Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Hypsarrhythmia, Ataxia, Dysphagia, Motor stereotypy, Generalized non-motor (absence) ... |
OMIM:619229 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... |
ORPHA:101109 |
Developmental And Epileptic Encephalopathy 2 |
|
Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Myoclonus, Hypsarrhythmi... |
OMIM:300672 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Myoclonic seizure, Inability to walk, Epileptic spasm, Gait ataxia, Recurrent hand flappi... |
OMIM:619580 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Status epil... |
OMIM:615538 |
Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Seizure, Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia |
OMIM:250620 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... |
ORPHA:101150 |
Developmental And Epileptic Encephalopathy 100 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... |
OMIM:619777 |
Subependymal Nodular Heterotopia |
|
Limb myoclonus, Seizure, EEG with temporal focal spike waves, Interictal EEG abnormality, EEG wit... |
ORPHA:101030 |
Harel-Yoon Syndrome |
|
Inability to walk, Spasticity, Generalized non-motor (absence) seizure, Ataxia |
OMIM:617183 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
Narp Syndrome |
|
Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia |
ORPHA:644 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... |
OMIM:213600 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
EEG with abnormally slow frequencies, Broad-based gait, Seizure, Inappropriate laughter, Abnormal... |
ORPHA:98794 |
Angelman Syndrome |
|
Ataxia, Self-injurious behavior, Broad-based gait, Seizure, Inability to walk, Inappropriate laug... |
ORPHA:72 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Bruxism, Chorea, Rigidity, T... |
OMIM:300260 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation... |
ORPHA:91348 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 31B |
|
Involuntary movements, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Appendicular spas... |
OMIM:620352 |
Periventricular Nodular Heterotopia 7 |
|
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Hypsarrhythmia, Ataxia |
OMIM:617201 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
EEG with abnormally slow frequencies, Spastic tetraplegia, EEG with generalized epileptiform disc... |
ORPHA:1947 |
Spinocerebellar Ataxia 13 |
|
Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Progres... |
OMIM:605259 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... |
OMIM:614207 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:619989 |
Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... |
ORPHA:101 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Seizure |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exag... |
OMIM:300607 |
Gaucher Disease, Type Iii |
|
Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia |
OMIM:231000 |
Lujan-Fryns Syndrome |
|
Joint hypermobility, Macroorchidism, Atrial septal defect, Camptodactyly of finger |
ORPHA:776 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Focal EEG discharges with secondary ge... |
ORPHA:3077 |
Pyridoxal Phosphate-Responsive Seizures |
|
Seizure, EEG with burst suppression, Myoclonus, Hypertonia, Unsteady gait, Status epilepticus |
ORPHA:79096 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... |
OMIM:183090 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Tremor, Fasciculations |
ORPHA:65684 |
Early-Onset Lafora Body Disease |
|
Spastic tetraparesis, Myoclonus, Seizure, Ataxia |
ORPHA:324290 |
Ataxia-Telangiectasia-Like Disorder |
|
Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent... |
ORPHA:251347 |
Inherited Creutzfeldt-Jakob Disease |
|
Progressive cerebellar ataxia, Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Myo... |
ORPHA:282166 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Seizure, Interictal EEG abnormality, Loss of ambulation, Clumsiness, Par... |
ORPHA:79264 |
Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Hemiplegia, Hypertonia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharge... |
OMIM:272300 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Myoclonic absence seizure, Spasticity, Seizure, Incoordination, Clonus, Tetraplegia, Ataxia, Chor... |
OMIM:616034 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal temper tantrums, EEG with generalized epileptiform discharges, Seizure, Cerebral... |
ORPHA:163681 |
Schindler Disease, Type I |
|
Spasticity, Myoclonus, Seizure |
OMIM:609241 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Dystonia 34, Myoclonic |
|
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis |
OMIM:619724 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Myoclonic seizure, Seizure, Inability to walk, Bruxism, Bilateral tonic-cl... |
OMIM:615716 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton... |
OMIM:617281 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r... |
OMIM:617798 |
Adenylosuccinase Deficiency |
|
Spasticity, Seizure, Inability to walk, Hemiplegia, Inappropriate laughter, Myoclonus, Gait ataxi... |
OMIM:103050 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia |
OMIM:252011 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Bilateral tonic-cloni... |
ORPHA:457240 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Spasticity, Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bi... |
OMIM:619983 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation... |
OMIM:617282 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Seizure, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sign, Hy... |
OMIM:617435 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ... |
ORPHA:101077 |
Gm1-Gangliosidosis, Type Iii |
|
Myoclonus, Slurred speech, Seizure, Ataxia |
OMIM:230650 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
D-Glyceric Aciduria |
|
Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticit... |
OMIM:220120 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Waddling gait |
ORPHA:369840 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor |
ORPHA:420485 |
Riboflavin Transporter Deficiency |
|
Seizure, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia |
ORPHA:97229 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Spasticity, Oromotor apraxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:466934 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines... |
ORPHA:98810 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc... |
OMIM:618060 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility |
ORPHA:1875 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
Fragile X Syndrome |
|
Macroorchidism, Mitral valve prolapse, Joint hypermobility |
ORPHA:908 |
Dk1-Cdg |
|
Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG with generalized s... |
ORPHA:91131 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:301091 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spasticity, Pseudobulbar paralysis, Hemiparesis, Rigidity, Aggressive behavior, Spastic ataxia, A... |
ORPHA:199354 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... |
OMIM:617145 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Self... |
ORPHA:363686 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Myoclonus, Seizure |
OMIM:616158 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... |
ORPHA:8 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Spastic paraparesis, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Hemip... |
ORPHA:395 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Spasticity, Cataplexy, Febrile seizure (within the age range of 3 months to 6 years), Fasciculati... |
ORPHA:496641 |
Spinocerebellar Ataxia Type 13 |
|
Seizure, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Dysphagia, Torticol... |
ORPHA:98768 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... |
ORPHA:280219 |
Clark-Baraitser syndrome |
|
Macroorchidism, Joint hypermobility |
OMIM:300602 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Seizure, Epileptic spasm, EEG with focal sharp waves, Myoclonus, EEG with polyspike wave complexe... |
ORPHA:284417 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Decreased motor nerve conduction velocity, Tremor, Babinski sign, Steppage gait, Hype... |
OMIM:609260 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... |
OMIM:616710 |
Hyperekplexia 3 |
|
Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response |
OMIM:614618 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Dysphagia, Abnormal posturing, Tremor |
OMIM:304700 |
Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Myoclonus, Rigidity |
OMIM:619057 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Gait disturbance,... |
OMIM:620538 |
Hyperlysinemia |
|
Poor motor coordination, Tip-toe gait, Seizure, EEG with spike-wave complexes, Dysmetria, Tremor,... |
ORPHA:2203 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Hyperactivity, Tremor, Ataxia |
OMIM:300983 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Spasticity, Seizure, Cerebral palsy, Chorea, Babinski sign, Bilateral tonic-clonic seizure with g... |
OMIM:618451 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Hypsarrhythmia, Dysphagia |
OMIM:617669 |
Canavan Disease |
|
Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, Bilateral tonic-clonic se... |
OMIM:271900 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function |
ORPHA:356 |
Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive behavior, Parkinson... |
OMIM:137440 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Spasticity, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Babinski si... |
OMIM:615802 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... |
OMIM:612067 |
19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Hyperactivity, Febrile seizure (within the age range of 3 months to 6 ye... |
ORPHA:447980 |
Glass Syndrome |
|
Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequen... |
OMIM:612313 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Spastic tetraplegia, Bilateral tonic-clonic seizure |
OMIM:618237 |
Cog4-Cdg |
|
Complex febrile seizure, Limb hypertonia, Ataxia |
ORPHA:263501 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
Hyperekplexia 1 |
|
Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls |
OMIM:149400 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Episodic ataxia, Myoclonus, Tremor, Choreoathetosis |
OMIM:312170 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign, Dysphagia |
OMIM:619780 |
Mepan Syndrome |
|
Spasticity, Chorea, Myoclonus, Gait disturbance, Ataxia, Dysphagia, Abnormality of visual evoked ... |
ORPHA:508093 |
Alfadhel Syndrome |
|
Bilateral tonic-clonic seizure, Spastic paraplegia, Aggressive behavior, Seizure |
OMIM:620655 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
Mccune-Albright Syndrome |
|
Precocious puberty, Aneurysmal bone cyst, Increased circulating prolactin concentration, Goiter, ... |
ORPHA:562 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Spasticity, Myoclonic seizure, Involuntary movements, Seizure, Infantile spasms, Bilateral tonic-... |
OMIM:618325 |
Paganini-Miozzo Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:301025 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia, Dysmetria, Clumsiness, Babins... |
ORPHA:284324 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Febrile seizure (within the ... |
OMIM:620073 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Hypsarrhythmia, Myoclonus |
OMIM:619060 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Myoclonic seizure, Myoclonus, Hypertonia |
OMIM:618240 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... |
ORPHA:99750 |
Sialidosis Type 1 |
|
Seizure, Decreased nerve conduction velocity, Myoclonus, Tremor, Gait disturbance, EEG abnormalit... |
ORPHA:812 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Motor ... |
OMIM:618218 |
Alexander Disease Type Ii |
|
Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Dysphagia, Palatal tremor |
ORPHA:363722 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Spasticity, Spastic tetraplegia, Generalized non-motor (absence) seizure, Epileptic spasm, Bilate... |
ORPHA:79351 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma |
OMIM:613094 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Bilateral tonic-clonic seizure |
OMIM:616083 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign |
OMIM:610245 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Seizure, Febrile seizure (within ... |
ORPHA:404440 |
Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... |
ORPHA:98764 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Tremor, Waddling gait |
OMIM:616269 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Myoclonus, Torticollis |
OMIM:616398 |
Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni... |
OMIM:602481 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait |
OMIM:213200 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Seizure, EEG with burst suppression, Infantile spasms, Tonic seizure, Hypsarrhythmia, Hyperactivity |
OMIM:619239 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Tremor, Paraparesis, Gait disturbance, Ataxia |
ORPHA:99014 |
Hyperekplexia-Epilepsy Syndrome |
|
Generalized tonic seizure, EEG with temporal focal spikes, Hypertonia, Exaggerated startle respon... |
ORPHA:163985 |
Sandhoff Disease, Infantile Form |
|
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st... |
ORPHA:309155 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, Ataxia, Inte... |
OMIM:616505 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Ankle clonus, Babinski sign,... |
OMIM:615398 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Osteopenia, Osteoporosis |
ORPHA:397685 |
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:609438 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct... |
ORPHA:79279 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Ambiguous genitalia, female, Female pseudohermaphrod... |
ORPHA:91 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Stereotypical hand wringing, Spastic tetraparesis, Seizure, Febrile seizure (within the age range... |
OMIM:619179 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Spasticity, Seizure, Interictal EEG abnormality, Infantile spasms, Bilateral tonic-clonic seizure... |
ORPHA:544503 |
Spinocerebellar Ataxia 29 |
|
Truncal titubation, Broad-based gait, Focal impaired awareness seizure, Limb ataxia, Gait ataxia,... |
OMIM:117360 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, EEG abnormality, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
Tay-Sachs Disease |
|
Typical absence seizure, Seizure, Fasciculations, Incoordination, Inability to walk, Myoclonus, D... |
ORPHA:845 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... |
ORPHA:71517 |
Chromosome 5Q12 Deletion Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:615668 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Limb tremor, Torticollis, Unsteady gait |
ORPHA:420492 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
White-Sutton Syndrome |
|
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:468678 |
Leukodystrophy, Hypomyelinating, 2 |
|
Spastic paraparesis, Decreased motor nerve conduction velocity, Seizure, Intention tremor, Rigidi... |
OMIM:608804 |
Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Myoclonus, Seizure |
OMIM:619814 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clon... |
OMIM:600721 |
Pontocerebellar Hypoplasia, Type 2E |
|
Spasticity, Myoclonic seizure, Infantile spasms, Myoclonus, Opisthotonus, Tonic seizure, Bilatera... |
OMIM:615851 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Seizure, Progressive spastic paraplegia, Myoclonus, Loss of ambulation, ... |
ORPHA:466722 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Male hypogonadism, Flexion contracture, Macroorchidism |
OMIM:300055 |
Juvenile Sialidosis Type 2 |
|
Spasticity, Seizure, Myoclonus, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dys... |
ORPHA:93399 |
Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Focal hyperkinetic seizure, Generalized-onset seizure, Tongue thrusting, Multifocal s... |
ORPHA:77299 |
3P25.3 Microdeletion Syndrome |
|
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... |
ORPHA:435638 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Fasciculations, Generalized-onset seizure, Limb ataxia, Dysmetria,... |
ORPHA:284289 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Seizure, Epileptic spasm, Myoclonus, Hypsarrhythmia, Vocal cord paralysis, Dysphagia |
ORPHA:500144 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
OMIM:616078 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Multifocal epilept... |
OMIM:616672 |
Unilateral Polymicrogyria |
|
Spastic tetraplegia, Involuntary movements, Seizure, Giant somatosensory evoked potentials, Pseud... |
ORPHA:268943 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Continuous spike and waves during slow sleep, Seizure, Generalized non-motor (absence) seizure, I... |
OMIM:620224 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Abnormal posturing, Generalized dystonia, Tremor, Torticollis, Writer's cramp, Tor... |
OMIM:128100 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Dysmetria, Hemiparesis, Ankle clo... |
ORPHA:139396 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Ankle clonus... |
OMIM:620423 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Tremor, Dysmetria, Steppage gait, Ataxia |
OMIM:618387 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
Phenylketonuria |
|
Lower limb spasticity, EEG abnormality, Tremor, Ataxia |
ORPHA:716 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Involuntary movements, Generalized myoclonic seizure, Seizure, Incoordination, Infantile spasms, ... |
ORPHA:480864 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Seizure, EEG with generalized sharp slow waves, Inability to walk, EEG with focal sharp w... |
ORPHA:79243 |
Peho Syndrome |
|
Hypsarrhythmia, Undetectable visual evoked potentials, Myoclonus, Seizure |
OMIM:260565 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Bruxism, Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing |
OMIM:612337 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
Tatton-Brown-Rahman Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:615879 |
Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Parkinsonism, Gait distu... |
OMIM:168601 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Bilateral tonic-clonic seizure |
OMIM:618120 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ... |
OMIM:302800 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Loss of ambulation, Progr... |
ORPHA:329308 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Tremor, Rigidity, Gait disturbance, Ataxia, Decreased ... |
OMIM:603472 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
OMIM:156200 |
D-Glyceric Aciduria |
|
Spasticity, Chorea, Myoclonus, Seizure |
ORPHA:941 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Focal motor seizure, Bilateral tonic-clonic seizure |
OMIM:618235 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Shuffling gait, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal ... |
ORPHA:171695 |
Dystonia-Aphonia Syndrome |
|
Seizure, Myoclonus, Gait disturbance, Unsteady gait, Dysphagia |
ORPHA:412217 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Fasciculations, Tremor, Impaired tandem gait, Polyminimyoclonus, Dysphagia |
OMIM:619574 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... |
ORPHA:52901 |
Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... |
ORPHA:96 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Infantile spasms, Hair-pulling, Motor stereotypy, Lower limb spasticity, Hypsarrhythmia, Clonus, ... |
ORPHA:447997 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dysphagia, Choreoathetosis |
OMIM:233910 |
Cog8-Cdg |
|
Myoclonus, Seizure, Ataxia |
ORPHA:95428 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... |
ORPHA:466943 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Macroorchidism, Hypospadias, Mitral valve prolapse |
OMIM:618874 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Spasticity, Seizure, Myoclonus, Self-mutilation, Babinski sign, Aggressive behavior, Bilateral to... |
ORPHA:364028 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus |
OMIM:618314 |
Charcot-Marie-Tooth Disease And Deafness |
|
Gait disturbance, Steppage gait, Decreased motor nerve conduction velocity, Tremor |
OMIM:118300 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia |
OMIM:614299 |
Optic Atrophy 11 |
|
Seizure, EEG with focal sharp waves, Stereotypical body rocking, Dysmetria, Hyperkinetic movement... |
OMIM:617302 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Spastic paraplegia, Polydipsia, Focal myoclonic seizure, Seizure, Cerebral palsy, Bilateral tonic... |
ORPHA:369929 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... |
ORPHA:352649 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Seizure, Epileptic spasm, Speech apraxia, Myoclonus, Bilateral tonic-clonic seizure with generali... |
ORPHA:314655 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure |
OMIM:616351 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Tremor, Atax... |
OMIM:300998 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:3044 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint hypermobility, Ventricular septal defect, Atrial septal defect, Macroorchidism, Flexion con... |
OMIM:309520 |
Shashi-Pena Syndrome |
|
Limb hypertonia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:617190 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:609425 |
Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki... |
OMIM:612953 |
Neuraminidase Deficiency |
|
Dysmetria, Myoclonus, Seizure, Slurred speech |
OMIM:256550 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder,... |
ORPHA:216866 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... |
OMIM:617013 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait,... |
OMIM:254900 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Multifocal epileptiform discharges, Self-mutilation, Bilateral tonic-clonic seizure |
ORPHA:453510 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperkinetic movements, Gait disturbance, Hypertonia, Seizure |
OMIM:236270 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617468 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait |
OMIM:616795 |
Bilateral Polymicrogyria |
|
Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms, Spastic hemiparesis... |
ORPHA:268940 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized non-motor (absence) seizure, Fatigable weakness of speech muscles, Inability to walk,... |
ORPHA:404454 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, EEG ab... |
ORPHA:1675 |
Microcephaly, Amish Type |
|
Myoclonus, Limb hypertonia |
OMIM:607196 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Seizure, Interictal EEG abnormality, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Gait ... |
OMIM:301310 |
Pontocerebellar Hypoplasia, Type 7 |
|
Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Myoclonus, Opisthotonus, Oculomot... |
OMIM:614969 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... |
ORPHA:98773 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor |
ORPHA:90117 |
Proximal Myopathy With Extrapyramidal Signs |
|
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... |
ORPHA:401768 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Seizure, Myoclonus, Tremor, Loss of ambulation, Right hemiplegia, Ataxia, Dysphagia, Status epile... |
OMIM:607426 |
Behr Syndrome |
|
Dysmetria, Tremor, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, C... |
ORPHA:199351 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Spasticity, Broad-based gait, Progressive spastic quadriplegia, Isometric tremor, Hypsarrhythmia,... |
OMIM:619475 |
3-Methylglutaconic Aciduria Type 7 |
|
Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor... |
ORPHA:445038 |
Non-Functioning Pituitary Adenoma |
|
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... |
ORPHA:91349 |
Mohr-Tranebjaerg Syndrome |
|
Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentials, Inability t... |
ORPHA:52368 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Head-banging, Bilateral tonic-clonic seizure |
OMIM:619356 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Aggressive behavior, Hypsarrhythmia, A... |
OMIM:618321 |
Prolidase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:170100 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Seizure, Difficulty walking, Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
Peroxisome Biogenesis Disorder 5B |
|
Death in childhood, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure, Hemiparesis |
OMIM:540000 |
Molybdenum Cofactor Deficiency, Type C |
|
Generalized-onset seizure, Limb hypertonia, Hypertonia, Bilateral tonic-clonic seizure, Generaliz... |
OMIM:615501 |
Serotonin Syndrome |
|
Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Restlessness, Agitation |
ORPHA:43116 |
Trisomy 20P |
|
Camptodactyly of finger, Reduced bone mineral density, Cryptorchidism, Joint hypermobility, Macro... |
ORPHA:261318 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Death in early adulthood, Dysmetria, Tremor, Loss of ambulation, Bab... |
OMIM:607694 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Spasticity, Seizure, Decreased nerve ... |
ORPHA:206436 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... |
ORPHA:231736 |
Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
Dpm1-Cdg |
|
Ataxia, Spasticity, Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seiz... |
ORPHA:79322 |
Hyperekplexia 2 |
|
Myoclonus, Hypertonia, Exaggerated startle response |
OMIM:614619 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, ... |
OMIM:620445 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Pill-rolling tremor, Anorexia, EEG with burst suppress... |
ORPHA:79139 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Chorea, Exa... |
ORPHA:309246 |
Ritscher-Schinzel Syndrome 4 |
|
Chorea, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Motor ... |
OMIM:619435 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Opisthotonus, Babinski sign,... |
OMIM:618076 |
Fatal Familial Insomnia |
|
Myoclonus, Dysphagia, Ataxia |
OMIM:600072 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact... |
ORPHA:466950 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Postural tremor, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Clumsine... |
OMIM:609270 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ... |
OMIM:605711 |
Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... |
OMIM:615530 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Myoclonus, Spastic tetraplegia, Seizure |
OMIM:614462 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Spasticity, Myoclonic seizure, Head-banging, Seizure, Generalized non-motor (absence) seizure, Ep... |
OMIM:620455 |
Neuroferritinopathy |
|
Blepharospasm, Involuntary movements, Resting tremor, Difficulty walking, Chorea, Babinski sign, ... |
ORPHA:157846 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Myoclonus, Babinski sign, Tongue thrusting, Limb hypertonia, Limb tremor, Torticol... |
OMIM:608643 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... |
ORPHA:90790 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:620237 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Spasticity, Focal myoclonic seizure, Seizure, Difficulty walking, Inability to walk, Aggressive b... |
ORPHA:481152 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... |
OMIM:261640 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Seizure, Tremor, Hyperkinetic movements, Gait disturbance |
OMIM:300957 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Generalized-onset seizure, Dysphagia, Hemiparesis |
OMIM:615750 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Spastic paraparesis, Hand apraxia, Generalized-onset seizure, Difficulty walking, Inability to wa... |
ORPHA:280229 |
3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Choreoathet... |
OMIM:616271 |
Alternating Hemiplegia Of Childhood |
|
Seizure, Tetraparesis, Episodic hemiplegia, Oral-pharyngeal dysphagia, Chorea, Anorexia, Tremor, ... |
ORPHA:2131 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic... |
OMIM:615474 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Seizure, Cataplexy, Inability to walk, Epileptic spasm, Generalized tonic ... |
OMIM:617193 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... |
ORPHA:240071 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Pica, Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
Hatipoglu Immunodeficiency Syndrome |
|
Slurred speech, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:620331 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
Glucocorticoid Deficiency 2 |
|
Myoclonic seizure, Focal motor seizure, Myoclonus, Spastic tetraparesis |
OMIM:607398 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Tremor, Loss of ambulation, Babinski sign, Spastic ataxia, Clumsiness, Hypert... |
ORPHA:137898 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... |
ORPHA:513456 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Resting tremor, Chorea, Gait ataxia, Titubation, Dystonia, Dysphagia |
ORPHA:225147 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94090 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia |
ORPHA:542310 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Bil... |
OMIM:617988 |
Lissencephaly Due To Tuba1A Mutation |
|
Spasticity, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:171680 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Spasticity, Hypertonia, Myoclonus, Seizure |
ORPHA:3078 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Dystonia, Tremor, Rigidity |
OMIM:615010 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonic seizure, Myoclonus, EEG abnormality, Seizure |
OMIM:614946 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Chorea, Gait ataxia, Dysmetria, Restlessness |
ORPHA:157941 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Limb ataxia, Gait ataxia, Tremor, Frequent falls |
OMIM:616719 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Appendicular spasticity... |
OMIM:620451 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Sandhoff Disease |
|
Ataxia, Spasticity, Myoclonic seizure, Fasciculations, Bilateral tonic-clonic seizure, Exaggerate... |
OMIM:268800 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis |
OMIM:612438 |
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Hyperkinetic movements, Self-injurious behavior, Myoclonic seizure, Gait disturbance |
OMIM:620469 |
Microcephaly-Capillary Malformation Syndrome |
|
Spastic tetraparesis, Infantile spasms, Myoclonus, Seizure |
OMIM:614261 |
Weaver Syndrome |
|
Spasticity, Seizure, Generalized non-motor (absence) seizure, Polyphagia, Bilateral tonic-clonic ... |
OMIM:277590 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Myoclonus, Ataxia |
OMIM:560000 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Seizure, Cerebral palsy, Generalized-onset seizure, Infantile spasms, Hypsarrhythmia, Dysphagia, ... |
ORPHA:2148 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Myoclonus, Seizure, Ataxia |
OMIM:619167 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... |
ORPHA:371428 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Broad-based gait, Myoclonic seizure, Fixated interests, Generalized non-... |
OMIM:620330 |
Hsd10 Disease, Infantile Type |
|
Poor coordination, Seizure, Hyperkinetic movements, Loss of ambulation, Paroxysmal bursts of laug... |
ORPHA:391428 |
Brain-Lung-Thyroid Syndrome |
|
Involuntary movements, Falls, Incoordination, Chorea, Abnormal eating behavior, Myoclonus, Intent... |
ORPHA:209905 |
Kinsship Syndrome |
|
Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Spas... |
OMIM:619297 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Seizure, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Oculomotor ... |
ORPHA:247262 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Interictal epilepti... |
OMIM:300243 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... |
OMIM:607483 |
Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... |
OMIM:613280 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Goiter, Delayed proximal femoral epiphyseal ossifi... |
ORPHA:90674 |
Stiff-Person Syndrome |
|
Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls |
OMIM:184850 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:613026 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:96147 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Dysphagia, Focal-onset seizu... |
ORPHA:258 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Focal-onset seizure... |
ORPHA:217253 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Undetectable visual evoked potentials, Babinski sign, Clonus, Limb hypertonia, Bilateral tonic-cl... |
ORPHA:423479 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Spasticity, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign, Loss of ambulation, Ataxia |
OMIM:620089 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ataxia, Broad-based gait, Typical absence seizure, Seizure, Febrile seizure (within the age range... |
ORPHA:268261 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Increa... |
ORPHA:459070 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure |
OMIM:618381 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Chorea, Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Oculomotor apraxia, Ataxia, Truncal... |
OMIM:208920 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Spasticity, Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Hyperkinetic... |
OMIM:612073 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
ORPHA:329284 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Atonic seizure, Seizure, Inability to walk, Bruxism, Hyperkinetic movements, Aggressive behavior,... |
OMIM:617799 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon... |
OMIM:620070 |
Developmental And Epileptic Encephalopathy 95 |
|
Seizure, Inability to walk, EEG with burst suppression, Inappropriate laughter, Focal-onset seizu... |
OMIM:618143 |
Keppen-Lubinsky Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Opisthotonus, Hypertonia,... |
OMIM:614098 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
Warburg Micro Syndrome 3 |
|
Myoclonic seizure, Inability to walk, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic... |
OMIM:614222 |
9P13 Microdeletion Syndrome |
|
Bruxism, Attention deficit hyperactivity disorder, Myoclonus, Hand tremor |
ORPHA:324313 |
Congenital Sialidosis Type 2 |
|
Spasticity, Seizure, Myoclonus, Dysmetria, Ataxia |
ORPHA:93400 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Myoclonus, Seizure |
ORPHA:70595 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Infantile ... |
OMIM:618733 |
Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor |
OMIM:607734 |
Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia |
OMIM:169400 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Seizure |
OMIM:620167 |
4H Leukodystrophy |
|
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... |
ORPHA:289494 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Abnormal pyramidal sign, Ataxia, Dysphagia, Generalized-onset seizure, Chorea, In... |
ORPHA:646 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
EEG with generalized sharp slow waves, Generalized non-motor (absence) seizure, EEG with spike-wa... |
ORPHA:369837 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait disturbance, Hyperac... |
ORPHA:464306 |
Eiken Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:600002 |
Leukodystrophy, Hypomyelinating, 10 |
|
Spasticity, Seizure, Inability to walk, Hyperkinetic movements, Babinski sign |
OMIM:616420 |
Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Intention tremor, ... |
OMIM:312080 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Spasticity, Tip-toe gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years),... |
OMIM:620450 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Convulsive status epilepticus, Broad-based gait, Seizure |
OMIM:616716 |
Choreoacanthocytosis |
|
Resting tremor, Hair-pulling, Loss of ambulation, Parkinsonism, Bradykinesia, Dysphagia, Socially... |
ORPHA:2388 |
Biotinidase Deficiency |
|
Spastic paraparesis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal mot... |
ORPHA:79241 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Myoclonus, Seizure |
ORPHA:251004 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms |
ORPHA:478029 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:300894 |
Developmental And Epileptic Encephalopathy 111 |
|
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... |
OMIM:620504 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Hypertonia |
OMIM:618426 |
Whipple Disease |
|
Ataxia, Polydipsia, Seizure, Myoclonus, Abnormal pyramidal sign, Anorexia |
ORPHA:3452 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Tongue fasciculations, Myoclonus, Seizure |
OMIM:614922 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Seizure, Anorexia, Myoclonus, Spastic hemiparesis, Hypsarrhythmia, EEG abnormality, A... |
ORPHA:20 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
Congenital Disorder Of Deglycosylation 1 |
|
Involuntary movements, Myoclonic seizure, Restlessness, Seizure, Oral-pharyngeal dysphagia, Chore... |
OMIM:615273 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Tremor, Death in infancy, Dystonia, Choreoathetosis |
OMIM:617664 |
Cerebrotendinous Xanthomatosis |
|
Spasticity, Abnormal auditory evoked potentials, Spastic paraparesis, Abnormal motor evoked poten... |
ORPHA:909 |
Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
Shigellosis |
|
Anorexia, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:810 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Orofaciodigital Syndrome Type 3 |
|
Focal seizure with eyelid myoclonia, Spasticity, Oculomotor apraxia, Myoclonus |
ORPHA:2752 |
Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... |
ORPHA:1359 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, EEG with bu... |
OMIM:614231 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Seizure, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tremor, Hyperkinetic move... |
OMIM:615356 |
Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
East Syndrome |
|
Polydipsia, Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Action tre... |
ORPHA:199343 |
Neuroblastoma, Susceptibility To, 1 |
|
Myoclonus, Ataxia |
OMIM:256700 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Simple febrile seizure, Moto... |
ORPHA:464311 |
Aymé-Gripp Syndrome |
|
EEG abnormality, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:1272 |
Kufor-Rakeb Syndrome |
|
Blepharospasm, Difficulty walking, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyr... |
ORPHA:306674 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:617050 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Spastic paraparesis, Seizure, Decreased nerve conduction velocity, Myoclonus, Absent ... |
OMIM:609136 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Seizure, Difficulty walking, Gait imbalance, Aggressive behavior, Gait disturbance, Dysphagia, Bi... |
ORPHA:488627 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, EEG with generalized sl... |
ORPHA:99027 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance |
ORPHA:83629 |
Sialuria |
|
Hyperkinetic movements, Attention deficit hyperactivity disorder, Seizure |
ORPHA:3166 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Status ep... |
OMIM:301072 |
Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Inability to walk, Myoclonus, Intenti... |
OMIM:208900 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Self-mutilation, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:52503 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ... |
ORPHA:765 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Status epilepticus |
ORPHA:564178 |
Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:168600 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Spastic tetraplegia, Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral ton... |
OMIM:620024 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Seizure, Myoclonus, Clonus, Status epilepticus, Spastic tetraplegia |
OMIM:619055 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Hyperautofluorescent macular l... |
OMIM:209900 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal atax... |
OMIM:618249 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus, EEG abnormality, Seizure |
OMIM:246450 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Hypert... |
OMIM:203700 |
Perry Syndrome |
|
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:168605 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... |
OMIM:614298 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Seizure, Myoclonus, Gait ataxia, Dysmetria, Babinski sign, Progressive gait ata... |
OMIM:607459 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Tremor, Parkinsonism, Fr... |
ORPHA:329478 |
Molybdenum Cofactor Deficiency, Type B |
|
Seizure, Opisthotonus, Bilateral tonic-clonic seizure, Myoclonic spasms, Hypertonia, Spastic tetr... |
OMIM:252160 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Spasticity, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure, Ataxi... |
ORPHA:255210 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Melas |
|
Seizure, Abnormal central motor function, Myoclonus, Hemiparesis, Gait disturbance, EEG abnormali... |
ORPHA:550 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... |
OMIM:614381 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Bilateral tonic-clonic seizure |
ORPHA:99742 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:620300 |
49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... |
ORPHA:261534 |
Proteus Syndrome |
|
Retinal nonattachment, Long penis, Thymus hyperplasia, Cranial hyperostosis, Chorioretinal colobo... |
ORPHA:744 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
ORPHA:2804 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
Immunodeficiency 23 |
|
Cortical myoclonus, Myoclonus, Ataxia |
OMIM:615816 |
De Sanctis-Cacchione Syndrome |
|
Spasticity, Babinski sign, Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Hypertonia, Chor... |
OMIM:278800 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Hyper-Igd Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:260920 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... |
ORPHA:325124 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Myoclonus, Limb myoclonus, Ataxia |
ORPHA:1183 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Typical absence seizure, Seizure |
OMIM:618343 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Developmental And Epileptic Encephalopathy 89 |
|
Spasticity, Myoclonic seizure, Tetraparesis, EEG with burst suppression, Epileptic spasm, Hyperki... |
OMIM:619124 |
Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... |
ORPHA:48818 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Hyperactivity, Dystonia, Dysphagia, Intention... |
OMIM:610217 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... |
ORPHA:43 |
Neuroblastoma |
|
Antalgic gait, Myoclonus, Ataxia |
ORPHA:635 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Myoclonic spasms |
ORPHA:36913 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Inability to walk, Bilateral tonic-clonic seizure, Atonic seizure, Tru... |
OMIM:620066 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Abnormal posturing |
OMIM:614857 |
Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hand tremor, Seizure, Gait ataxia, Dysmetria, Motor stereotypy, Attention defic... |
OMIM:614756 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor,... |
OMIM:606002 |
Perry Syndrome |
|
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Episodic Ataxia Type 7 |
|
Hyperkinetic movements, Episodic ataxia |
ORPHA:209970 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Inability to walk, Myoclonus, EEG abnormality, Unsteady gait, Focal motor ... |
ORPHA:3063 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism, Joint hypermobility |
OMIM:619950 |
Farber Disease |
|
Spasticity, Seizure, Infantile spasms, Myoclonus, Paraparesis |
ORPHA:333 |
Helsmoortel-Van Der Aa Syndrome |
|
Typical absence seizure, Seizure, Bruxism, Polyphagia, Tonic seizure, Attention deficit hyperacti... |
OMIM:615873 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Seizure, Myoclonus, Hyperkinetic movements, Aggressive behavior, Hypertonia, Unsteady gait, Chore... |
ORPHA:17 |
Joubert Syndrome 1 |
|
Hemifacial spasm, Self-mutilation, Aggressive behavior, Oculomotor apraxia, Hyperactivity, Ataxia |
OMIM:213300 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Bilateral tonic-... |
OMIM:614947 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Convulsive status epilepticus, Spasticity, Seizure, Inability to walk, Hypertonia, Ataxia |
OMIM:608885 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Ethylene Glycol Poisoning |
|
Seizure, Myoclonus, Addictive alcohol use, Ataxia, Slurred speech |
ORPHA:31826 |
Molybdenum Cofactor Deficiency, Type A |
|
Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia |
OMIM:252150 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Hyperactivity |
OMIM:608747 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Reduced bone mineral d... |
ORPHA:90796 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Pgm3-Cdg |
|
Cortical myoclonus, Myoclonus, Seizure, Ataxia |
ORPHA:443811 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94089 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:293978 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr... |
ORPHA:3109 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia |
ORPHA:683 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Ataxia |
OMIM:610505 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Seizure, Infantile spasms, Hypsarrhythmia, EEG abnormality, Bilateral tonic-clonic seizure, Hyper... |
OMIM:301044 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:99885 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit... |
OMIM:619512 |
Webb-Dattani Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
OMIM:615926 |
Aspartylglucosaminuria |
|
Joint stiffness, Macroorchidism, Abnormal cortical bone morphology, Arthritis |
ORPHA:93 |
Myopathy, Mitochondrial, And Ataxia |
|
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dy... |
OMIM:617675 |
Fraser-Like Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst |
OMIM:229230 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Spasticity, Motor stereotypy, Seizure |
OMIM:301040 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Choreoathetosis |
OMIM:612716 |
Cocaine Intoxication |
|
Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Atyp... |
ORPHA:90068 |
Metachromatic Leukodystrophy |
|
Decerebrate rigidity, Tip-toe gait, Incoordination, Decreased nerve conduction velocity, Tremor, ... |
ORPHA:512 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bilateral tonic-clonic seizure, Atonic seizure |
ORPHA:2976 |
Scorpion Envenomation |
|
Seizure, Hemifacial spasm, Myoclonus, Tremor, Hyperkinetic movements, Ataxia, Restlessness |
ORPHA:466677 |
Oromandibular Dystonia |
|
Blepharospasm, Bruxism, Hyperkinetic movements, Torticollis, Dysphagia |
ORPHA:93958 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Bilateral tonic-clonic seizure |
ORPHA:436159 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure |
ORPHA:73224 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Spasticity, Seizure, Fasciculations, Fatigable weakness of skeletal muscle... |
ORPHA:284339 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hemiballismus, EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Athetoid cerebr... |
ORPHA:522077 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Tremor, Bilateral toni... |
OMIM:612474 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Spasticity, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Rigidity, Hyperton... |
ORPHA:2636 |
Lathosterolosis |
|
Myoclonus, Seizure |
ORPHA:46059 |
Leigh Syndrome |
|
Spasticity, Involuntary movements, Seizure, Chorea, Infantile spasms, Abnormality of extrapyramid... |
ORPHA:506 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Limitation of joint mobility, Abnormal female ext... |
ORPHA:95699 |
Lujo Hemorrhagic Fever |
|
Bilateral tonic-clonic seizure, Dysphagia, Resting tremor, Seizure |
ORPHA:319213 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Undetectable visual evoked potentials, Tongue fasciculations, Spasticity, Babinski sign, Bilatera... |
OMIM:252010 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bilateral tonic-clonic seizure, Tetraplegia, Generalized myoclonic seizure, Seizure |
OMIM:257300 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraplegia, Paraparesis, Bilateral tonic-clonic seizure, Hemiparesis |
ORPHA:79124 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
Poliomyelitis |
|
Fasciculations, Inability to walk, Abnormal motor nerve conduction velocity, Fatigable weakness o... |
ORPHA:2912 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Bruxism, Typical absence seizure, Seizure |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Bruxism, Typical absence seizure, Seizure |
ORPHA:352665 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia |
OMIM:618527 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Decreased distal sensory nerve actio... |
ORPHA:99956 |
Tick-Borne Encephalitis |
|
Tongue fasciculations, Generalized-onset seizure, Speech apraxia, Incoordination, Tremor, Fatigab... |
ORPHA:297 |
Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... |
ORPHA:91495 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Seizure, Inability to walk, Hypsarrhythmia, Limb hypertonia, Bilateral tonic-clonic s... |
OMIM:620371 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Attention deficit hyperactivity disorder, Apraxia, Generalized non-motor (absence) seizure, Ataxia |
ORPHA:77293 |
X Small Rings |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:96201 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Iris coloboma, Septate vagina, Cryptorchidism, Mitral valve prolapse, Cont... |
OMIM:300166 |
Hallermann-Streiff Syndrome |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:234100 |
D-Bifunctional Protein Deficiency |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Seizure |
OMIM:261515 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Akinesia, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abn... |
OMIM:234200 |
Oliver Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2920 |
Cystic Echinococcosis |
|
Abnormal heart morphology, Abnormality of the testis size, Bone cyst, Ovarian cyst |
ORPHA:400 |
Listeriosis |
|
Seizure, Myoclonus, Tremor, Hemiparesis, Ataxia |
ORPHA:533 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Involuntary movements, Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, In... |
ORPHA:438213 |
Autosomal Dominant Hypocalcemia |
|
Cortical myoclonus, Fatigable weakness |
ORPHA:428 |
Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... |
OMIM:601104 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Lower li... |
ORPHA:447753 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst |
OMIM:613546 |
Familial Gestational Hyperthyroidism |
|
Agitation, Hyperactivity, Hand tremor |
ORPHA:99819 |
Aspartylglucosaminuria |
|
Pathologic fracture, Macroorchidism, Joint hypermobility |
OMIM:208400 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hemiparesis, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:150230 |
Sotos Syndrome |
|
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Aggressi... |
ORPHA:821 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Myoclonus, Tetraplegia, Seizure |
OMIM:618278 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility |
ORPHA:2714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Agitation, Hyperactivity, Hand tremor |
ORPHA:424 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Seizure, Myoclonus, Enlarged flash visual evoked potentials, EEG abnormality |
OMIM:253280 |
Holoprosencephaly 14 |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:619895 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Myoclonic seizure, Violent behavior, Seizure, Gait ataxia, Bilateral tonic-clon... |
OMIM:280000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Spasticity, Dysphagia, Generalized non-motor (absence) seizure |
ORPHA:500150 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Tremor, Hyperkinetic movements, Polyphagia, Hyperactivity |
ORPHA:525731 |
Pseudohypoparathyroidism Type 1C |
|
Polyphagia, Hypocalcemic seizures, Myoclonic spasms |
ORPHA:79444 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Typical absence seizure, Focal-onset seizure, Atonic seizure |
OMIM:617157 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Polyphagia, Myoclonic spasms, Hypocalcemic seizures, Choreoathetosis |
ORPHA:79443 |
Vici Syndrome |
|
Postnatal growth retardation, Dysphagia, Abnormal posturing |
OMIM:242840 |
Meningioma |
|
Seizure, Hemifacial spasm, Abnormal central motor function, Difficulty walking, Hemiparesis, Atax... |
ORPHA:2495 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Difficulty walking, Gait ataxia, Bilateral tonic-clonic seizure |
ORPHA:457359 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... |
OMIM:609049 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Gaucher Disease |
|
Hemiplegia/hemiparesis, Tremor, Abnormality of extrapyramidal motor function, Oculomotor apraxia,... |
ORPHA:355 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
Carpenter Syndrome 2 |
|
Generalized non-motor (absence) seizure |
OMIM:614976 |
Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Remnants of the hyaloid v... |
OMIM:620185 |
Ogden Syndrome |
|
Generalized-onset seizure, Dysphagia, Hypertonia, Bilateral tonic-clonic seizure, Torticollis, Mo... |
OMIM:300855 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Spasticity, Seizure, Hyperkinetic movements, Abnormal pyramidal sign, Hy... |
ORPHA:468631 |
Doors Syndrome |
|
EEG abnormality, Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
ORPHA:79500 |
Mowat-Wilson Syndrome |
|
Ataxia, Spasticity, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG with spike-wave co... |
ORPHA:2152 |
Acromelic Frontonasal Dysostosis |
|
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal reti... |
ORPHA:649 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Spasticity, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG abnormality, Dysphagia, At... |
ORPHA:261537 |
Acrofacial Dysostosis, Cincinnati Type |
|
Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb spasticity, Vocal c... |
OMIM:616462 |
Hartsfield Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:615465 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Spasticity, Broad-based gait, Seizure, Inability to walk, Bruxism, EEG abnormality, Dysphagia, At... |
ORPHA:261552 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic left heart, Osteopenia, Abnormality of the ovary, Bicuspid aortic valve, Atrial septa... |
ORPHA:881 |
Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure |
ORPHA:2751 |
Full Nf2-Related Schwannomatosis |
|
Epiretinal membrane, Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid ... |
ORPHA:637 |
Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Sin... |
OMIM:157170 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Neuroocular Syndrome 1 |
|
Patent foramen ovale, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens colo... |
OMIM:619539 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
Kabuki Syndrome 1 |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure |
OMIM:147920 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
Alström Syndrome |
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Typical absence seizure, Incoordination, Polyphagia, Ataxia, Poor fine motor coordination |
ORPHA:64 |