| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... |
OMIM:600512 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... |
OMIM:616461 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... |
OMIM:615400 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... |
OMIM:300088 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
| Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... |
ORPHA:306 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... |
OMIM:615369 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Dravet Syndrome |
|
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... |
OMIM:607208 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:604352 |
| Developmental And Epileptic Encephalopathy 26 |
|
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:616056 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Cardiomyopathy, Left ventricular hypertrophy, Bilateral tonic-clonic sei... |
OMIM:611556 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:618357 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... |
OMIM:616172 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... |
ORPHA:101046 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... |
OMIM:613863 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly |
ORPHA:139406 |
| Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... |
OMIM:604233 |
| Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Osteoporosis, Contractures of the large joints, Bilateral tonic-clonic seizure |
OMIM:608278 |
| Myoclonic Epilepsy, Familial Infantile |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:605021 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... |
ORPHA:363549 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613060 |
| Continuous Spikes And Waves During Sleep |
|
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... |
ORPHA:725 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... |
ORPHA:139426 |
| Epilepsy, Idiopathic Generalized |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... |
OMIM:600669 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
| Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure |
OMIM:618924 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... |
ORPHA:101039 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... |
OMIM:615697 |
| Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:266100 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:1941 |
| Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
| Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... |
OMIM:121200 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... |
OMIM:607682 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... |
ORPHA:2382 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... |
ORPHA:101071 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Focal-onset seizure, Chronic neutropenia, Bilateral tonic-clonic seizure, Thrombocytopenia, Myocl... |
OMIM:619301 |
| Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:616341 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... |
OMIM:615285 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Focal ... |
ORPHA:98820 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Focal impa... |
OMIM:618587 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Focal-onset seizure, Chronic neutropenia, Bilateral tonic-clonic seizure, Thrombocytopenia, Myocl... |
OMIM:619302 |
| Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... |
OMIM:618873 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:613608 |
| Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:607681 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
OMIM:609800 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
| Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Flexion contracture, Bilateral tonic-clonic seizure with focal onset, Bilatera... |
OMIM:618856 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal-onset seizur... |
ORPHA:36387 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... |
ORPHA:86909 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... |
OMIM:619157 |
| Pyridoxine-Dependent Epilepsy |
|
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... |
ORPHA:3006 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... |
ORPHA:98818 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:254800 |
| Developmental And Epileptic Encephalopathy 6B |
|
Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Status epilepticu... |
OMIM:619317 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... |
ORPHA:178469 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Seizure, Hepatomegaly, Ingu... |
OMIM:256550 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, H... |
OMIM:231095 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal impaired ... |
ORPHA:330050 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Seizure, Contractures of the large joints, Cardiomegaly |
OMIM:300886 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... |
ORPHA:263516 |
| Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
ORPHA:208441 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure |
OMIM:619000 |
| Bilateral Generalized Polymicrogyria |
|
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... |
ORPHA:208447 |
| Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:609056 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure |
OMIM:616281 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619191 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
| Rare Non-Syndromic Intellectual Disability |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:101685 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Neutropenia, Umbilical hernia, Bilateral t... |
OMIM:169400 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... |
OMIM:619338 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
| New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... |
ORPHA:363558 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:617836 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:250972 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... |
OMIM:271980 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteoporosis, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Osteopenia |
ORPHA:529665 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
ORPHA:289266 |
| Familial Infantile Myoclonic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Seizure, Bilateral t... |
ORPHA:352582 |
| Sarcosinemia |
|
Pulmonic stenosis, Bilateral tonic-clonic seizure, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Patent foramen ovale, Bilateral tonic-clonic seizure |
OMIM:618832 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619065 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:618917 |
| Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Atrial septal defect, Focal impaired awareness seizure, Bilateral tonic-clon... |
OMIM:301058 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized non-motor (absence) seizure, Sei... |
ORPHA:485350 |
| Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:726 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Dense calvaria, Seizure, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
| Developmental And Epileptic Encephalopathy 4 |
|
Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Epileptic spasm, G... |
OMIM:612164 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Atonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Genera... |
ORPHA:382 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Seizure, Cardiomegaly, Anemia |
OMIM:618886 |
| Foxg1 Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Infantile spasms |
ORPHA:561854 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure |
OMIM:300423 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Seizure, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:600649 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Seizure, Hepatomegaly, Pancytopenia, Cardiomegaly, Mitral stenosis, S... |
OMIM:231005 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Bilateral tonic-clonic seizure |
OMIM:540000 |
| Amish Lethal Microcephaly |
|
Osteoporosis, Decreased skull ossification, Bilateral tonic-clonic seizure, Hepatomegaly |
ORPHA:99742 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal to... |
ORPHA:168491 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Bilateral tonic-clonic seizure |
ORPHA:369840 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, He... |
ORPHA:42 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:464282 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Joint contractures involving the joints of the feet, Bilateral tonic-clonic seizure |
ORPHA:457205 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
| X-Linked Intellectual Disability, Hedera Type |
|
Atonic seizure, Left ventricular hypertrophy, Bilateral tonic-clonic seizure |
ORPHA:93952 |
| Lafora Disease |
|
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic... |
ORPHA:501 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:614487 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... |
OMIM:254780 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Myoclonic spasms, Bilateral tonic-clonic seizure, Abnormal heart morphology |
ORPHA:79264 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Bilateral tonic-clonic seizure, Biventricular hypertrophy, Left ventri... |
OMIM:615474 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Bi... |
ORPHA:79124 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Cranial hyperostosis, Bilateral tonic-clonic seizure |
ORPHA:457240 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Bilateral tonic-clonic seizure, Seizure, Foca... |
ORPHA:369929 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:313772 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Seizure, Hepatomegaly, Anisocytosis, C... |
OMIM:618278 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Flexion contracture, Bilateral tonic-clonic seizure, Seizure, Infantil... |
ORPHA:79243 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Bilateral tonic-clonic seizure |
OMIM:619278 |
| Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Arthrogryposis multiplex congenita, Focal-onset seizure, Bilateral tonic-clo... |
OMIM:618143 |
| Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Bilateral tonic-clonic seizure, Hepatomegaly, Focal myoclonic seizure, Splenomegaly |
OMIM:617050 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, A... |
ORPHA:98795 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Cardiomegaly, Bilateral tonic-clonic seizure, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Childhood Absence Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... |
ORPHA:64280 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Focal emotional seizure with laughing, Megaloblastic anemia, Atonic seizure, Bilateral tonic-clon... |
ORPHA:79351 |
| Congenital Tricuspid Valve Dysplasia |
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Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Epilepsy, Familial Adult Myoclonic, 2 |
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Myoclonus, Bilateral tonic-clonic seizure |
OMIM:607876 |
| Sickle Cell Anemia |
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Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... |
OMIM:603903 |
| 3P25.3 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Bilateral tonic-clonic seizure, Generalized non-... |
ORPHA:435638 |
| Sandhoff Disease |
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Bilateral tonic-clonic seizure, Hepatomegaly, Myoclonic seizure, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Gaucher Disease |
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Osteolysis, Arthrogryposis multiplex congenita, Abnormal heart valve morphology, Mitral valve cal... |
ORPHA:355 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Neutropenia, Bilateral tonic-clonic seizure |
OMIM:608809 |
| Bilateral Polymicrogyria |
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Arthrogryposis multiplex congenita, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure,... |
ORPHA:268940 |
| Heterotaxy, Visceral, 1, X-Linked |
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Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, O... |
OMIM:306955 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Atrial septal defect, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) se... |
ORPHA:457351 |
| X-Linked Non-Syndromic Intellectual Disability |
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Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
ORPHA:777 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
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Seizure, Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy |
OMIM:261740 |
| Infantile Cerebellar-Retinal Degeneration |
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Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614559 |
| X Small Rings |
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Osteoporosis, Ventricular septal defect, Bilateral tonic-clonic seizure, Seizure, Reduced bone mi... |
ORPHA:96201 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
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Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
ORPHA:488613 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Bilateral tonic-clonic sei... |
ORPHA:480864 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generalized myoclonic ... |
ORPHA:1947 |
| Early Infantile Epileptic Encephalopathy |
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Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... |
ORPHA:1934 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
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Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615501 |
| Angelman Syndrome |
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Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... |
ORPHA:72 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures |
ORPHA:98784 |
| Aorta Coarctation |
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Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... |
ORPHA:1457 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Generalized tonic seizure, Craniosynostosis, Atrial septal defect, Abnormal heart morphology, Res... |
ORPHA:369837 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Osteoporosis, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic se... |
ORPHA:459070 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... |
ORPHA:395 |
| Melas |
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Focal-onset seizure, Concentric hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Seiz... |
ORPHA:550 |
| Pseudoleprechaunism Syndrome, Patterson Type |
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Atonic seizure, Delayed pubic bone ossification, Bilateral tonic-clonic seizure |
ORPHA:2976 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
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Bilateral tonic-clonic seizure |
ORPHA:79350 |
| W Syndrome |
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Camptodactyly, Bilateral tonic-clonic seizure |
ORPHA:2804 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Enamel hypoplasia, Secundum atrial septal defect, Bilateral tonic-clonic seizure, Generalized non... |
OMIM:615802 |
| Biotinidase Deficiency |
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Bilateral tonic-clonic seizure, Seizure, Focal motor seizure, Infantile spasms, Generalized myocl... |
ORPHA:79241 |
| Neuromuscular Oculoauditory Syndrome |
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Knee flexion contracture, Wrist flexion contracture, Infantile spasms, Bilateral tonic-clonic sei... |
OMIM:618733 |
| Mitochondrial Dna-Associated Leigh Syndrome |
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Bilateral tonic-clonic seizure, Seizure, Hepatomegaly, Dilated cardiomyopathy, Infantile spasms, ... |
ORPHA:255210 |
| Combined Oxidative Phosphorylation Defect Type 29 |
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Myoclonic spasms, Bilateral tonic-clonic seizure |
ORPHA:478029 |
| D-Bifunctional Protein Deficiency |
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Bilateral tonic-clonic seizure, Seizure, Hepatomegaly, Splenomegaly, Osteopenia |
OMIM:261515 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
| Isolated Permanent Neonatal Diabetes Mellitus |
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Arthrogryposis multiplex congenita, Abnormal heart morphology, Contractures of the joints of the ... |
ORPHA:99885 |
| Oliver Syndrome |
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Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture, Bilateral tonic-clo... |
ORPHA:2920 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Febrile seizure (within the age range of 3 months to 6 years), Abnormal heart morphology, Ventric... |
ORPHA:268261 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
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Dilated cardiomyopathy, Pericardial effusion, Myoclonic spasms, Bilateral tonic-clonic seizure |
ORPHA:73224 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Multiple joint contractures, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure |
ORPHA:447997 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), Ventricular septal defect, Contrac... |
ORPHA:513456 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Atrial septal defect, Ventricular septal defect, Focal-onset seizure, Campto... |
OMIM:301044 |
| Sotos Syndrome |
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Craniosynostosis, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Fle... |
ORPHA:821 |
