Myoclonic Epilepsy, Progressive |
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Generalized myoclonic seizure |
OMIM:310370 |
Myoclonic Epilepsy, Hartung Type |
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Generalized myoclonic seizure |
OMIM:159600 |
Mental Retardation, X-Linked 89 |
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Generalized myoclonic seizure |
OMIM:300848 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
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Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
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Generalized non-motor (absence) seizure |
OMIM:612269 |
Intellectual Developmental Disorder, X-Linked 41 |
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Generalized non-motor (absence) seizure |
OMIM:300849 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
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Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized |
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Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... |
OMIM:600669 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
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Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:617924 |
Intellectual Developmental Disorder, X-Linked 100 |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300923 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
Epilepsy, Myoclonic Juvenile |
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Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... |
OMIM:254770 |
Developmental And Epileptic Encephalopathy 9 |
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Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... |
OMIM:300088 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:604233 |
Epilepsy, Familial Temporal Lobe, 7 |
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Focal sensory seizure with auditory features |
OMIM:616436 |
Paroxysmal Exertion-Induced Dyskinesia |
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Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Agg... |
ORPHA:98811 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
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Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
Epilepsy, Familial Temporal Lobe, 8 |
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Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... |
OMIM:616461 |
Febrile Seizures, Familial, 9 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:613060 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... |
OMIM:617831 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
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Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure |
OMIM:618596 |
Epilepsy, Familial Temporal Lobe, 3 |
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Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure |
OMIM:611630 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
Epilepsy, Progressive Myoclonic, 6 |
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Generalized non-motor (absence) seizure, Myoclonus, Tremor, Ataxia, Seizure, Atonic seizure, Diff... |
OMIM:614018 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
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Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... |
OMIM:618357 |
Developmental And Epileptic Encephalopathy 57 |
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Seizure, Generalized myoclonic seizure, Atypical absence seizure |
OMIM:617771 |
Perioral Myoclonia With Absences |
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Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... |
ORPHA:139426 |
Dravet Syndrome |
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Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Continuous Spikes And Waves During Sleep |
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Clumsiness, Interictal epileptiform activity, Focal impaired awareness seizure, Seizure, Continuo... |
ORPHA:725 |
Epilepsy, Familial Temporal Lobe, 1 |
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Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Epilepsy, Familial Temporal Lobe, 4 |
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Focal aware seizure, Focal sensory seizure with visual features, Focal impaired awareness seizure |
OMIM:611631 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:607681 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Myoclonic Epilepsy Of Infancy |
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Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... |
ORPHA:86909 |
Developmental And Epileptic Encephalopathy 19 |
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Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... |
OMIM:615744 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Landau-Kleffner Syndrome |
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Focal impaired awareness seizure, Seizure, Anxiety, Nocturnal seizures, Speech apraxia, Slurred s... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 26 |
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Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... |
OMIM:616056 |
Myoclonic-Atonic Epilepsy |
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Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 94 |
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Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:615369 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
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Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Seizures, Benign Familial Infantile, 2 |
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Generalized-onset seizure, Focal-onset seizure |
OMIM:605751 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
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Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Juvenile Myoclonic Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... |
ORPHA:307 |
Juvenile Absence Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
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Seizure, Ataxia, Aggressive behavior, Slender build |
OMIM:617709 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Dystonia, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myo... |
OMIM:617836 |
Lennox-Gastaut Syndrome |
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Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, Hyperactivity, Atonic seiz... |
ORPHA:2382 |
Spastic Ataxia With Congenital Miosis |
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Seizure, Ataxia, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Dystonia, Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movem... |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 56 |
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Poor coordination, Seizure, Ataxia, Status epilepticus, Broad-based gait, Anxiety, Attention defi... |
OMIM:617665 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
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Bilateral tonic-clonic seizure, Aggressive behavior, Lower limb spasticity, Inability to walk, At... |
OMIM:619639 |
Developmental And Epileptic Encephalopathy 6B |
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Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
Benign Familial Infantile Epilepsy |
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Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... |
ORPHA:306 |
N-Acetylaspartate Deficiency |
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Self-mutilation, Stereotypy, Seizure, Truncal ataxia, Unsteady gait, Decreased body weight |
OMIM:614063 |
Jeavons Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... |
ORPHA:139431 |
Epilepsy, Familial Temporal Lobe, 5 |
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Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
Epilepsy, Progressive Myoclonic, 12 |
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Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperact... |
OMIM:619191 |
Neuropathy, Hereditary Sensory, Atypical |
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Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Female Restricted Epilepsy With Intellectual Disability |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:101039 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
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Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonic seizure, Seizure, Broad-... |
OMIM:619157 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to walk, Atonic s... |
OMIM:617810 |
Mental Retardation, Autosomal Recessive 63 |
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Generalized myoclonic seizure |
OMIM:618095 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure... |
OMIM:614561 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... |
OMIM:271980 |
Primary Orthostatic Tremor |
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Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Epilepsy, Familial Adult Myoclonic, 1 |
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Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:601068 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
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Generalized non-motor (absence) seizure |
ORPHA:370943 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... |
ORPHA:2590 |
Epilepsy, Familial Adult Myoclonic, 5 |
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Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... |
OMIM:615400 |
Alternating Hemiplegia Of Childhood 1 |
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Episodic quadriplegia, Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Ep... |
OMIM:104290 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Seizure, Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
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Babinski sign, Ataxia, Difficulty walking, Spasticity, Generalized non-motor (absence) seizure |
OMIM:618242 |
Spinocerebellar Ataxia 48 |
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Babinski sign, Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Tremor, Ata... |
OMIM:618093 |
Episodic Ataxia, Type 1 |
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Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Seizure, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Optic Atrophy 2 |
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Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Developmental And Epileptic Encephalopathy 52 |
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Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... |
OMIM:617350 |
Lissencephaly 10 |
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Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Bilateral tonic-clonic seizure, Small for gestational age, Focal impaired awareness seizure, Spee... |
OMIM:245570 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
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Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
Episodic Ataxia, Type 9 |
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Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... |
OMIM:618924 |
Guanidinoacetate Methyltransferase Deficiency |
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Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... |
ORPHA:382 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
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Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Gait disturbance, Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seiz... |
OMIM:618141 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Postural tremor, Babinski sign, Gait disturbance, Bilateral tonic-clonic seizure, Lower limb spas... |
ORPHA:100988 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Rigidity, Bilateral tonic-clonic seizure, Falls, Bradykinesia, I... |
OMIM:300423 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Dystonia, Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Ep... |
ORPHA:53583 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... |
OMIM:618917 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior,... |
ORPHA:485350 |
Dravet Syndrome |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:33069 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Dysmetria, Tremor, Atonic seizure, Generalized myoclonic seizure |
OMIM:612437 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Seizure, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Chore... |
ORPHA:178469 |
Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, Dysesthesia, Focal he... |
ORPHA:1945 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Aggre... |
OMIM:619150 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Stereotypy |
OMIM:300271 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Immunodeficiency 17 |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Stereotypy, Seizure, Irritability, Spasticity, Difficulty walking |
OMIM:617393 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure |
OMIM:615476 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Seizure, Hemiplegia, Anxiety |
OMIM:141500 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:615697 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Male infertility, Azoospermia |
ORPHA:94064 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... |
OMIM:619565 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Babinski sign, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus,... |
OMIM:619065 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Bilateral Generalized Polymicrogyria |
|
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurio... |
ORPHA:208447 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk, Seizure, General... |
OMIM:618090 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor, Seizure, Inab... |
ORPHA:330050 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Convulsive status epilepticus, Ster... |
OMIM:618760 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Bilateral tonic-clonic seizure, Abulia, Aggressive behavior, Abnormality of ext... |
ORPHA:275864 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
Hyperprolinemia, Type I |
|
Aggressive behavior, Stereotypy, Seizure, Hyperactivity, Ataxia, Status epilepticus |
OMIM:239500 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Seizure, Inability to walk, Stereotypical hand wringing, Epileptic spasm |
OMIM:619561 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Symmetrical Thalamic Calcifications |
|
Failure to thrive, Seizure, Ataxia, Hypertonia, EEG abnormality, Spasticity, Arrhythmia |
ORPHA:1314 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia |
OMIM:617018 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure, ... |
OMIM:615362 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Seizure, Emotional lability, Spasticity, Difficulty wal... |
ORPHA:101685 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Generalized non-motor (absence) seizure |
OMIM:300801 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Gait disturbance, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extra... |
ORPHA:93952 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:35878 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Seizure |
OMIM:619061 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... |
OMIM:619338 |
Myoclonic-Astatic Epilepsy |
|
Simple febrile seizure, Generalized myoclonic-atonic seizure, Tremor, Hyperactivity, Ataxia, Bila... |
ORPHA:1942 |
Polymicrogyria, Bilateral Temporooccipital |
|
Seizure, Status epilepticus, Focal impaired awareness seizure |
OMIM:612691 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616187 |
L-Ferritin Deficiency |
|
Generalized-onset seizure |
OMIM:615604 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Myoclonic seizur... |
OMIM:619616 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Seizure, Stereotypy |
OMIM:617862 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsoni... |
ORPHA:401901 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Status epilepticus, Seizure, Spasticity |
OMIM:614307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618709 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Irritability, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
Hydroxylysinuria |
|
Generalized myoclonic seizure |
OMIM:236900 |
Benign Occipital Epilepsy |
|
Focal impaired awareness seizure |
ORPHA:25968 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Seizure, Tremor |
OMIM:611092 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized... |
ORPHA:101070 |
Developmental And Epileptic Encephalopathy 58 |
|
Stereotypy, Seizure, Inability to walk, Spastic diplegia, Status epilepticus |
OMIM:617830 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Myoclonus, Status epilepticus... |
OMIM:609056 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Abnormality of pain sensation, Eating-induced seizure, Tremo... |
ORPHA:544254 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Gait disturbance, Akinetic mutism, Pseudobulbar paralysis, Rigidity, Abulia, Bilateral tonic-clon... |
ORPHA:199354 |
Deafness, Congenital, And Familial Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Myoclonus |
OMIM:220300 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus |
OMIM:208700 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Seizure, Inability to walk, Status epilepticus, Bilateral tonic-clonic ... |
OMIM:616645 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, S... |
ORPHA:208441 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
Choreoathetosis, Familial Inverted |
|
Gait disturbance, Rigidity, Progressive choreoathetosis, Seizure, Abnormal pyramidal sign |
OMIM:118750 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... |
ORPHA:726 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Generalized-onset seizure, Focal-onset seizure, Anxiety, Paroxysmal choreoat... |
OMIM:602066 |
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Clumsiness, Involuntary movements, Mood swings, Gait imbalance, Abnormality of pain sensation, Ag... |
ORPHA:468620 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Apathy, Seizure, Ataxia, Irritability, Hemiplegia/hemiparesis |
ORPHA:99966 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
Dysequilibrium Syndrome |
|
Cerebral palsy, Ataxia, Gait disturbance, Seizure |
ORPHA:1766 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure, A... |
ORPHA:168491 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Focal hemifacial clonic seizure, Seizure, Tremor,... |
OMIM:608105 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Hyperactivity, Anxiety,... |
OMIM:300558 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401840 |
Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
Carnosinemia |
|
Generalized myoclonic seizure |
OMIM:212200 |
Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Arrhythmia... |
OMIM:614860 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus, Irritability |
OMIM:263550 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxi... |
OMIM:614487 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... |
OMIM:608096 |
Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Stereotypy |
OMIM:616341 |
Severe Canavan Disease |
|
Babinski sign, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Inability to walk, ... |
ORPHA:314911 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis, Hearing impairment |
OMIM:312910 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Seizure |
OMIM:617113 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:601764 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Seizure, Broad-base... |
OMIM:619470 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia |
ORPHA:98797 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Gait disturbance, Frequent falls, Dysmetria, Chorea, Weight lo... |
ORPHA:157941 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Seizure, Spast... |
OMIM:615528 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia |
OMIM:612736 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, O... |
ORPHA:216873 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus, Generalized-onset seizure, EEG abnormality, Focal-onset seizure |
ORPHA:86814 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Dystonia, Choreoathetosis, Tetraplegia, Ataxia, Seizure, Status epilepticu... |
OMIM:614820 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure, Spa... |
ORPHA:79262 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety |
OMIM:159900 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Seizure, Ataxia, Apraxia |
ORPHA:85338 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Seizure, Tetraparesis, Spasticity, Abnormal p... |
OMIM:615924 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp... |
OMIM:261640 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
ORPHA:94122 |
Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... |
ORPHA:3006 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Seizure, Hypertonia, Irritability |
OMIM:261630 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Myoclonus, Focal impaired awareness seizure, Stereotypy, Inability to walk, Ato... |
ORPHA:411986 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:263516 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis, Infantile spasms, Myoclonus, Stereotyp... |
ORPHA:561854 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Ataxia, Hypertonia, Status epilepticus |
OMIM:617020 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Lower limb spasticity, Seizure, Ataxia, Generalized myo... |
ORPHA:464282 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Seizure, Failure to thrive |
OMIM:618951 |
Lafora Disease |
|
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Se... |
ORPHA:501 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Seizure, Craniofacial dystonia, Resting tremor, Emotional lability, Pa... |
ORPHA:71517 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Stereotypy |
DECIPHER:8 |
Rasmussen Subacute Encephalitis |
|
Involuntary movements, Hemidystonia, Generalized convulsive status epilepticus, Focal impaired aw... |
ORPHA:1929 |
Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Opisthotonus, Frequent falls, Weight loss, Seizure, Inability to walk, Generali... |
ORPHA:216866 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor ap... |
ORPHA:313772 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure, Emotional lability, Tetraparesis |
ORPHA:3129 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Bilateral toni... |
OMIM:619028 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... |
OMIM:612716 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
Pontocerebellar Hypoplasia, Type 11 |
|
Happy demeanor, Poor coordination, Stereotypy, Seizure, Ataxia, Inability to walk, Decreased body... |
OMIM:617695 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Spastic tetraplegia |
OMIM:613721 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Gait disturbance, Simple febrile seizure, Limb myoclonus, Bilateral tonic-clonic seiz... |
ORPHA:352582 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Gait disturbance, Dystonia, Chorea, Bradykinesia, Seizure, Atypical absence status... |
ORPHA:225147 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Generalized myoclonic seizure |
ORPHA:79156 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Tremor, Ataxia, Seizure, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Aggressive behavior, Bilateral tonic-clonic seizure |
OMIM:603204 |
Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Panic attack, Limb myoclonus, Infantile spasms... |
ORPHA:3095 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Obesity, Aggressive behavior, Shuffling gait, Lower limb ... |
ORPHA:3077 |
Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:605021 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysmetria, Tremor, Oculomotor apraxia, Seizure, Status epilepticu... |
ORPHA:529665 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorde... |
OMIM:617182 |
Liang-Wang Syndrome |
|
Dystonia, Ataxia, Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Tonic seizure, Bilat... |
OMIM:619580 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Hypertonia, Bilateral tonic-clonic seizure |
OMIM:269720 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Seizure, Dysmetria, Aggressive behavior, Tremor, Ataxi... |
ORPHA:228360 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure |
OMIM:616193 |
Developmental And Epileptic Encephalopathy 12 |
|
Generalized-onset seizure, Focal-onset seizure |
OMIM:613722 |
Infantile Convulsions And Choreoathetosis |
|
Athetosis, Involuntary movements, Normal interictal EEG, Dystonia, Choreoathetosis, Chorea, Parox... |
ORPHA:31709 |
Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Seizure, Ataxia, Inability to walk, Spasticity, Difficulty walking, Lethargy |
OMIM:617829 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... |
OMIM:609425 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Failure to thrive, Bilateral tonic-clonic seizure, Spasticity |
OMIM:616281 |
Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety |
OMIM:606438 |
Harel-Yoon Syndrome |
|
Ataxia, Inability to walk, Generalized non-motor (absence) seizure, Spasticity |
OMIM:617183 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... |
ORPHA:98763 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic tetraplegi... |
OMIM:619301 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
Isolated Focal Cortical Dysplasia |
|
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Seizure, Bilateral tonic-... |
ORPHA:65683 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... |
OMIM:618218 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Parkinsonism |
OMIM:162350 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:607745 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Tremor, Ataxia, Hyperactivity, Seizure, Spasticity |
OMIM:300983 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
Spinocerebellar Ataxia Type 10 |
|
Babinski sign, Kinetic tremor, Gait imbalance, Dysmetria, Aggressive behavior, Apathy, Lower limb... |
ORPHA:98761 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... |
ORPHA:101046 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Seizure, Ataxia |
ORPHA:404493 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure... |
OMIM:619428 |
Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Intention tremor, Seizure, Hypertonia, Broad-based gait, Abnormal pyramidal ... |
OMIM:617964 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Carnosinase Deficiency |
|
Generalized myoclonic seizure |
ORPHA:1361 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Self-mutilation, Stereot... |
ORPHA:457240 |
Unilateral Focal Polymicrogyria |
|
Spastic hemiparesis, Aggressive behavior, Focal impaired awareness seizure, Focal motor seizure, ... |
ORPHA:268947 |
Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Progressive cerebellar... |
ORPHA:248111 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Myoclonus, Intention tremor, Seizure, Ataxia |
OMIM:618876 |
Hypoglycemia, Leucine-Induced |
|
Seizure, Ataxia, Irritability, Spasticity |
OMIM:240800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Spastic tetraplegia, Hypertonia, Generalized... |
OMIM:618677 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Seizure, Hyperactivity, Generalized-onset seizure, Spasticity, Foca... |
ORPHA:88616 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Myoclonus, Tremor, Ataxia, Seizure, Abnormal pyramidal sign |
OMIM:612016 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Tonic seizure, Self-biting, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior... |
OMIM:300912 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Shuffling gait, Bradykinesia, Falls, Apathy, Resting tremor, Short stepped shuffling ga... |
ORPHA:306692 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Gait ataxia, Seizure |
OMIM:615705 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairmen... |
OMIM:165300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Babinski sign, Dystonia, Rigidity, Aggressive behavior, Myoclonus, Apathy, Ster... |
OMIM:600795 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia |
OMIM:617270 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with ... |
OMIM:254780 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantil... |
ORPHA:98820 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Rest... |
ORPHA:391411 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... |
OMIM:619092 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Bilateral tonic-clonic seizure, Tongue thrusting, Seizure, Bilateral tonic-clonic... |
ORPHA:98795 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia |
OMIM:615768 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure, Chorea, Waddling gait, Truncal ataxia, Difficulty walking |
ORPHA:369840 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Spastic tetraplegi... |
OMIM:619302 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Tonic seizure, Chorea, Lower limb spasticity, Stereotypy, Repet... |
OMIM:300260 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Torticollis, Intention tremor, Hypergonadotropic hypogonadism, Head tremor |
OMIM:613724 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Gait disturbance, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failur... |
ORPHA:395 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Stereotypy, Seizure, Anxiety, Attention deficit hyperactivity disorder |
OMIM:618906 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
X-Linked Non-Syndromic Intellectual Disability |
|
Babinski sign, Bilateral tonic-clonic seizure, Small for gestational age, Seizure, Obesity, Atten... |
ORPHA:777 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Seizure, Generalized-onset seizure, Tongue fas... |
OMIM:159950 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... |
OMIM:604326 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Seizure, Gait ataxia, Gait imbalance, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
Autism |
|
Seizure, Stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Seizure, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Seizure, Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Seizure, Stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Stereotypy |
OMIM:608636 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive, ... |
ORPHA:477673 |
Homocystinuria Without Methylmalonic Aciduria |
|
Seizure, Ataxia, Failure to thrive, Lethargy |
ORPHA:622 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia |
OMIM:615282 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Ataxia, Blepharospasm |
OMIM:607876 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Self-injurious behavior, Obesity, Aggressive behavior, Speech aprax... |
OMIM:613670 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Stereotypy, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, Spast... |
OMIM:610042 |
Infantile Cerebellar-Retinal Degeneration |
|
Athetosis, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-onset seizure, Decrea... |
OMIM:614559 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myoclonus, Seizure, Ataxia, Spasticity, Generalized myoclonic seizure |
OMIM:545000 |
Dopa-Responsive Dystonia |
|
Seizure, Irritability, Panic attack, Anxiety, Oculogyric crisis, Generalized tonic seizure, Letha... |
ORPHA:255 |
Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hemiparesis, Focal-onset ... |
ORPHA:101071 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Seizure, Spasticity |
OMIM:618718 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, Bradykines... |
OMIM:300894 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Aggressive behavior, Falls, Bradykinesia, Spastic tetraplegia, Dista... |
OMIM:617225 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Recurrent hand... |
OMIM:309548 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Dysmetria, Tremor, Ataxia, Seizure, Tongue fasciculations |
OMIM:618170 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... |
OMIM:610245 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea, Seizure, Focal sensory seizure |
ORPHA:98809 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Clumsiness, Bilateral tonic-clonic seizure, Frequent falls, Focal impaired awareness seizure, Spa... |
ORPHA:1947 |
Diaminopentanuria |
|
Seizure, Ataxia, Spasticity |
OMIM:222350 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Failure to thrive, Seizure, Irritability, Stereotypical hand wringing, Spasticity |
ORPHA:500545 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Angelman Syndrome |
|
Happy demeanor, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Obesit... |
ORPHA:72 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sm... |
ORPHA:289266 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:266100 |
Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Recurrent hand flapping |
ORPHA:100973 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Bilateral tonic-clonic seizure, Nocturnal seizures, S... |
ORPHA:98784 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... |
OMIM:260300 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... |
ORPHA:284332 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Seizure, Po... |
ORPHA:79263 |
Intellectual Developmental Disorder, Autosomal Recessive 57 |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Inability to walk, Hypert... |
OMIM:617188 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... |
OMIM:617241 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Failure to thrive in infancy, Febrile seizure (within the age range of 3 months... |
OMIM:614104 |
Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Irritability |
OMIM:612126 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia |
OMIM:618387 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Athetosis, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Failure to th... |
ORPHA:79351 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Bradykinesia, Positive Rom... |
OMIM:607136 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Dystonia, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Abnormal pyramidal sign,... |
OMIM:618224 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Seizure, Abnormal pyramidal sign |
ORPHA:139485 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Irritability,... |
ORPHA:206443 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Dystonia, Spastic dysarthria, Stereotypy, Seizure, Waddling gait, Difficulty walki... |
ORPHA:280763 |
Hyperprolinemia Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Early onset a... |
ORPHA:79101 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Early Infantile Epileptic Encephalopathy |
|
Generalized clonic seizure, Dystonia, Febrile seizure (within the age range of 3 months to 6 year... |
ORPHA:1934 |
Benign Familial Neonatal Epilepsy |
|
Increased theta frequency activity in EEG, Clonus, Limb myoclonus, Focal clonic seizure, Focal to... |
ORPHA:1949 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Infantile spasms, Impaired pain sensation, Stereotypical hand wringing, Focal-o... |
ORPHA:505652 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
Kufor-Rakeb Syndrome |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, Myoclonus,... |
OMIM:606693 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia |
ORPHA:276183 |
Spermatogenic Failure 11 |
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Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Hyperphenylalaninemia, Bh4-Deficient, B |
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Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Seizure, Irritability, Hyperkinetic... |
OMIM:233910 |
Autosomal Spastic Paraplegia Type 58 |
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Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Seizure, Abnormal pyramidal sig... |
OMIM:614831 |
Spinocerebellar Ataxia 32 |
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Testicular atrophy, Ataxia, Infertility, Azoospermia |
OMIM:613909 |
Spinocerebellar Ataxia 35 |
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Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking |
OMIM:613908 |
Spermatogenic Failure 1 |
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Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Urocanase Deficiency |
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Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Clumsiness, Myoclonic spasms, Poor motor coordination, Bilateral tonic-clonic seizure, Stereotypy... |
ORPHA:79264 |
Spinocerebellar Ataxia, X-Linked 1 |
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Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
Ceroid Lipofuscinosis, Neuronal, 2 |
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Seizure, Ataxia, Myoclonus, Abnormal nervous system electrophysiology |
OMIM:204500 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-mutilati... |
OMIM:615516 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
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Seizure, Limb ataxia, Gait ataxia |
ORPHA:404499 |
Autosomal Recessive Dopa-Responsive Dystonia |
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Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
Xq28 (MECP2) duplication |
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Progressive spasticity, Failure to thrive, Stereotypy, Seizure, Inability to walk, Anxiety, Gait ... |
DECIPHER:45 |
Kohlschutter-Tonz Syndrome-Like |
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Upper limb spasticity, Overweight, Nocturnal seizures, Myoclonus, Lower limb spasticity, Stereoty... |
OMIM:619229 |
Hyperphenylalaninemia, Bh4-Deficient, D |
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Tremor, Hypertonia |
OMIM:264070 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
Spinocerebellar Ataxia 40 |
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Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Limb hypertonia, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Stere... |
ORPHA:457351 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
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Dystonia, Inability to walk, Irritability, Bilateral tonic-clonic seizure |
ORPHA:457205 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
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Babinski sign, Dysmetria, Failure to thrive, Aggressive behavior, Myoclonus, Intention tremor, Se... |
OMIM:618356 |
Hypermanganesemia With Dystonia 2 |
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Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Leukodystrophy, Hypomyelinating, 6 |
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Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Seizure, Spasticity |
OMIM:612438 |
Hereditary Continuous Muscle Fiber Activity |
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Seizure, Ataxia, Spastic gait, Slurred speech |
ORPHA:972 |
Spinocerebellar Ataxia Type 28 |
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Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
Intellectual Developmental Disorder, X-Linked 1 |
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Seizure, Aggressive behavior, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
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Seizure, Attention deficit hyperactivity disorder, Happy demeanor, Typical absence seizure |
ORPHA:576283 |
Dystonia 27 |
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Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Tay-Sachs Disease |
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Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Typical absence seizure, Frequent... |
ORPHA:845 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Loss of ambulation,... |
ORPHA:329308 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
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Dystonia, Gait disturbance, Rigidity, Seizure, Ataxia |
OMIM:618239 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Postural tremor, Myoclonus, Intention tremor, Generalized-onset seizure, Action tremor, Gait ataxia |
OMIM:254900 |
Christianson Syndrome |
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Dystonia, Cachexia, Conspicuously happy disposition, Stereotypy, Generalized-onset seizure, Trunc... |
ORPHA:85278 |
Neuroectodermal Melanolysosomal Disease |
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Rigidity, Tremor, Ataxia, Hypertonia, Seizure, Spasticity |
ORPHA:33445 |
Parkinsonism With Polyneuropathy |
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Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
Beta-Propeller Protein-Associated Neurodegeneration |
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Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Seizure, Parkinsonism, Spastic par... |
ORPHA:329284 |
Developmental And Epileptic Encephalopathy 4 |
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Bilateral tonic-clonic seizure, Spastic tetraplegia, Tremor, Status epilepticus, Spastic parapleg... |
OMIM:612164 |
Progressive Multifocal Leukoencephalopathy |
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Weakness due to upper motor neuron dysfunction, Paresthesia, Abnormal proportion of CD4-positive ... |
ORPHA:217260 |
Spermatogenic Failure, X-Linked, 2 |
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Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Neuronal Intranuclear Inclusion Disease |
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Gait disturbance, Rigidity, Tremor, Ataxia, Seizure, Somatic sensory dysfunction |
OMIM:603472 |
Parkinson Disease 17 |
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Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism |
OMIM:614203 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
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Babinski sign, Lower limb spasticity, Cardiomyopathy, Difficulty walking, Abnormal pyramidal sign... |
ORPHA:320360 |
Lopes-Maciel-Rodan Syndrome |
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Dystonia, Bradykinesia, Tremor, Seizure, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abn... |
OMIM:617435 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Hyperactivity, Aggressive behavior, Stereotypy |
OMIM:615541 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... |
ORPHA:169154 |
Gerstmann-Straussler Disease |
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