Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
Landau-Kleffner Syndrome |
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Non-convulsive status epilepticus without coma, Memory impairment, Focal myoclonic seizure, Seizu... |
ORPHA:98818 |
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 |
Continuous Spikes And Waves During Sleep |
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Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... |
ORPHA:725 |
Myoclonic Epilepsy Of Infancy |
|
Mental deterioration, Generalized non-motor (absence) seizure, Febrile seizure (within the age ra... |
ORPHA:86909 |
Dravet Syndrome |
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Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor ... |
OMIM:607208 |
Autism, Susceptibility To, 8 |
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Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... |
OMIM:607373 |
Autism |
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Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... |
OMIM:209850 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
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Atypical absence seizure, Cognitive impairment, Bilateral tonic-clonic seizure, Pseudobulbar para... |
OMIM:300388 |
Lennox-Gastaut Syndrome |
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Mental deterioration, Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seizure, Ag... |
ORPHA:2382 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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EEG abnormality, Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Asperger Syndrome, Susceptibility To, 1 |
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Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... |
OMIM:608631 |
Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactivity, Bil... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 24 |
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Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
Benign Familial Infantile Epilepsy |
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Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
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 |
Developmental And Epileptic Encephalopathy 112 |
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Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
Myoclonic-Atonic Epilepsy |
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Myoclonic seizure, Generalized non-motor (absence) seizure, Attention deficit hyperactivity disor... |
OMIM:616421 |
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, 15 |
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Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... |
OMIM:618357 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
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Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ... |
OMIM:254800 |
Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-... |
OMIM:616056 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... |
ORPHA:36387 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
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Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti... |
OMIM:619157 |
Rolandic Epilepsy |
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Depression, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic... |
ORPHA:1945 |
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 |
Lissencephaly 10 |
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Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ... |
OMIM:618873 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... |
OMIM:608636 |
Polymicrogyria, Bilateral Temporooccipital |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Aggressive beh... |
OMIM:612691 |
Developmental And Epileptic Encephalopathy 31A |
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Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-cloni... |
OMIM:616346 |
Developmental And Epileptic Encephalopathy 56 |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Obsessive-compulsive trait, ... |
OMIM:617665 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Aggressive behavior, Reduced social reciprocity |
OMIM:618103 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
Epilepsy, Progressive Myoclonic, 6 |
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Memory impairment, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ... |
OMIM:614018 |
Epilepsy, Myoclonic Juvenile |
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Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... |
OMIM:254770 |
Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
Lipoid Proteinosis Of Urbach And Wiethe |
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Aggressive behavior, Memory impairment, Seizure, Generalized non-motor (absence) seizure |
OMIM:247100 |
Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Bilate... |
OMIM:616409 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus... |
ORPHA:2590 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Reduced social reciprocity |
OMIM:606053 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... |
OMIM:616461 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607631 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 19 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615744 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
OMIM:607628 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Perioral Myoclonia With Absences |
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Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... |
ORPHA:139426 |
Dravet Syndrome |
|
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... |
ORPHA:33069 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... |
OMIM:609446 |
Developmental And Epileptic Encephalopathy 57 |
|
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure |
OMIM:617771 |
Developmental Delay With Or Without Epilepsy |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... |
OMIM:620540 |
Developmental And Epileptic Encephalopathy 108 |
|
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... |
OMIM:620115 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Mental deterioration, Irritability, Bilateral tonic-clonic seizure, Restlessness, Focal impaired ... |
OMIM:610003 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... |
ORPHA:208441 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... |
ORPHA:65683 |
Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... |
OMIM:618141 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Generalized-onset seizure, Attention deficit hyperactivity disorder, Generalized non-motor (absen... |
ORPHA:35878 |
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 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:618596 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:611364 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... |
OMIM:619970 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
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 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... |
OMIM:618587 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ... |
OMIM:271980 |
Epilepsy With Eyelid Myoclonia |
|
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... |
OMIM:619317 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Generalized non-motor (absence) seizure, Aggressive behavior, Seizure, Irritability |
ORPHA:98811 |
Obesity, Hyperphagia, And Developmental Delay |
|
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Generalized non-motor (absence) seizure, Short attention span, Aggressive behavior, Hype... |
OMIM:300558 |
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 |
Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ... |
ORPHA:208447 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Depression, Seizure, Generalized non-motor (absence) seizure, Infantile ... |
ORPHA:485350 |
Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Emotional blunting, Motor stereo... |
OMIM:172700 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Developmental And Epileptic Encephalopathy 52 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... |
OMIM:617350 |
Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, H... |
OMIM:620145 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... |
OMIM:607681 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Generalized non-motor (absence) seizure, Self-mutilation, Polyphagia, Aggressive behavior, Focal ... |
OMIM:616521 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Febrile Seizures, Familial, 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611634 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Recurrent hand flapping, A... |
OMIM:617600 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Myoclonic seizure, Typical absence seizure, Seizure, Dementia, Myoclonus, F... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... |
OMIM:617711 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... |
OMIM:608049 |
Pyridoxine-Dependent Epilepsy |
|
Focal aware motor seizure, Focal myoclonic seizure, Seizure, Early onset absence seizures, Epilep... |
ORPHA:3006 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl... |
OMIM:619854 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... |
OMIM:615637 |
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 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:613855 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi... |
ORPHA:101046 |
Lafora Disease |
|
Mental deterioration, Generalized myoclonic seizure, Focal impaired awareness seizure, Depression... |
ORPHA:501 |
Myoclonic-Astatic Epilepsy |
|
Atonic seizure, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, B... |
ORPHA:1942 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619000 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Polyphagia, Reduced social reciprocity |
ORPHA:329249 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure |
OMIM:612621 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... |
OMIM:619616 |
Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Diminished ability to concentrate, Motor tics, Typical absence seizure, Bilateral tonic-clonic se... |
OMIM:620688 |
Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... |
ORPHA:64280 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... |
OMIM:615476 |
Hyperprolinemia Type 2 |
|
Depression, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o... |
ORPHA:79101 |
Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Hyper... |
OMIM:619913 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ... |
ORPHA:411986 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Seizure, Generalized non-motor (absence) seizure, Primary amenorrhea |
OMIM:616033 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic s... |
ORPHA:101070 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... |
OMIM:619338 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Focal motor seizure, Generalized non-motor (absence) seizure |
OMIM:615553 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Mental deterioration, Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized-ons... |
OMIM:620166 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... |
OMIM:617810 |
Childhood Disintegrative Disorder |
|
Abnormal emotion, Motor stereotypy, Reduced social reciprocity |
ORPHA:168782 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Attention deficit hyperactivity disorder, Typical absence seizure, Dysphagia, Seizure |
ORPHA:576283 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... |
OMIM:617935 |
Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
Tubulinopathy-Associated Dysgyria |
|
Attention deficit hyperactivity disorder, Infantile spasms, Startle-induced seizure, Generalized ... |
ORPHA:467166 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Eating-induced se... |
ORPHA:544254 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... |
OMIM:618354 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:617836 |
Developmental And Epileptic Encephalopathy 28 |
|
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... |
OMIM:616211 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Generalized non-motor (absence) seizure |
OMIM:618242 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Generalized-onset se... |
OMIM:619827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Irritability,... |
ORPHA:3077 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... |
OMIM:619428 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure |
OMIM:610293 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depression, Seizure, Generalized non-motor (absence) seizure, Hostility, Bruxism, Tonic seizure, ... |
OMIM:300260 |
Developmental And Epileptic Encephalopathy 110 |
|
Bruxism, Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure |
OMIM:620149 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive trait, Self... |
ORPHA:363686 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, Infantile ... |
OMIM:300912 |
Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:3051 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Bilateral tonic-clonic seizure, Multifocal seizures, Seizure, Generalized non-motor (absence) sei... |
OMIM:618170 |
Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Seizure, Generalized non-motor (absence) seizure |
OMIM:617201 |
Liang-Wang Syndrome |
|
Status epilepticus, Generalized non-motor (absence) seizure |
OMIM:618729 |
Den Hoed-De Boer-Voisin Syndrome |
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Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus, Focal-onset... |
OMIM:619229 |
Pitt-Hopkins-Like Syndrome 1 |
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Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, A... |
OMIM:610042 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior |
ORPHA:309246 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Seizure, Bilateral tonic-clonic seizure with generalized onset, Tongue thrusting, Bilateral tonic... |
ORPHA:98795 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Phonic tics, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... |
OMIM:616973 |
Angelman Syndrome |
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Self-injurious behavior, Seizure, Delayed menarche, Inappropriate laughter, Infantile spasms, Myo... |
ORPHA:72 |
Harel-Yoon Syndrome |
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Generalized non-motor (absence) seizure |
OMIM:617183 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Generalized non-motor (absence) seizure, Hypogonadism, Epileptic spasm, Irritability, Bilateral t... |
ORPHA:79351 |
3P25.3 Microdeletion Syndrome |
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Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... |
ORPHA:435638 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:613839 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Mental deterioration, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Cogn... |
ORPHA:395 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
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Generalized non-motor (absence) seizure |
OMIM:300801 |
Lissencephaly Due To Lis1 Mutation |
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Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Atonic se... |
ORPHA:95232 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bila... |
ORPHA:457351 |
2,4-Dienoyl-Coa Reductase Deficiency |
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Myoclonic absence seizure, Seizure |
OMIM:616034 |
3-Methylglutaconic Aciduria, Type Viia |
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Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... |
OMIM:619835 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
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Bruxism, Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing |
OMIM:612337 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Depression, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Irritability, Stat... |
ORPHA:96147 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Bilateral tonic-clonic ... |
OMIM:615802 |
Tay-Sachs Disease |
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Mania, Memory impairment, Typical absence seizure, Depression, Seizure, Myoclonus, Short attentio... |
ORPHA:845 |
Early Infantile Epileptic Encephalopathy |
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Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... |
ORPHA:1934 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure |
OMIM:615398 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Pica, Seizure, Generalized non-motor (absence) seizure |
OMIM:617360 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
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Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:301091 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Emotional lability,... |
ORPHA:309256 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... |
OMIM:614207 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
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Myoclonic seizure, Head-banging, Seizure, Generalized non-motor (absence) seizure, Epileptic spas... |
OMIM:620455 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Bilateral tonic-clonic seizure, Irritability, Generalized non-motor (absence) seizure, Febrile se... |
OMIM:617798 |
Dpm1-Cdg |
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Seizure, Early onset absence seizures, Generalized tonic seizure, Atonic seizure, Generalized myo... |
ORPHA:79322 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Emotional lability,... |
ORPHA:309263 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... |
ORPHA:466943 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Seizure, Generalized non-motor (absence) seizure, Cognitive impairment, Dysphagia, Focal-onset se... |
ORPHA:258 |
Developmental And Epileptic Encephalopathy 100 |
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Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... |
OMIM:619777 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Generalized non-motor (absence) seizure, Fatigable weakness of speech muscles, Infantile spasms, ... |
ORPHA:404454 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized non-motor (absence) seizure |
OMIM:620224 |
Weaver Syndrome |
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Bilateral tonic-clonic seizure, Polyphagia, Seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact... |
ORPHA:466950 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Self-injurious behavior, Myoclonic seizure, Fixated interests, Generalized non-motor (absence) se... |
OMIM:620330 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Agitation, Disinhibition |
ORPHA:1020 |
Kinsship Syndrome |
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Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Moto... |
OMIM:619297 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... |
ORPHA:369837 |
Helsmoortel-Van Der Aa Syndrome |
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Typical absence seizure, Seizure, Bruxism, Irritability, Polyphagia, Attention deficit hyperactiv... |
OMIM:615873 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:268261 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
ORPHA:513456 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Typical absence seizure, Seizure |
OMIM:618343 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Generalized non-motor (absence) seizure |
ORPHA:293978 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bruxism, Typical absence seizure, Seizure |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bruxism, Typical absence seizure, Seizure |
ORPHA:352665 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic... |
OMIM:612474 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Attention deficit hyperactivity disorder, Depression, Generalized non-motor (absence) seizure |
ORPHA:77293 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Typical absence seizure, Focal-onset seizure, Short attention span, Atonic seizure |
OMIM:617157 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... |
ORPHA:353281 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Epileptic spasm, Status epilepticus, Seizure, Generalized non-motor (absence) seizure |
ORPHA:2636 |
Sotos Syndrome |
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Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Decreased fertil... |
ORPHA:821 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Generalized-onset seizure, Dysphagia, Generalized non-motor (absence) seizure |
ORPHA:500150 |
Carpenter Syndrome 2 |
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Generalized non-motor (absence) seizure |
OMIM:614976 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... |
ORPHA:353277 |
Mowat-Wilson Syndrome |
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Seizure, Bruxism, Focal-onset seizure, Chordee, Oligomenorrhea, Dysphagia, Atypical absence seizu... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Seizure, Bruxism, Motor stereotypy, Chordee, Atypical absence seizure, Dysphagia, Focal-onset sei... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Seizure, Bruxism, Motor stereotypy, Chordee, Atypical absence seizure, Dysphagia, Focal-onset sei... |
ORPHA:261552 |
Alström Syndrome |
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Irregular menstruation, Typical absence seizure, Delayed menarche, Polyphagia, Cognitive impairme... |
ORPHA:64 |
1P36 Deletion Syndrome |
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Self-injurious behavior, Polyphagia, Motor stereotypy, EEG abnormality, Dysphagia |
ORPHA:1606 |