Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Seizure |
OMIM:618113 |
Autism, Susceptibility To, X-Linked 6 |
|
Seizure |
OMIM:300872 |
Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
Mental Retardation, X-Linked 88 |
|
Seizure |
OMIM:300852 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
Intellectual Developmental Disorder, Autosomal Dominant 41 |
|
Seizure |
OMIM:616944 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
|
Seizure |
OMIM:616887 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Seizure |
OMIM:614113 |
Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Isolated Focal Cortical Dysplasia |
|
Abnormal cortical gyration, Cognitive impairment, Generalized-onset seizure, Psychomotor deterior... |
ORPHA:65683 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... |
OMIM:600512 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Myoclonus |
OMIM:616230 |
Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Seizure, Focal-onset seizure |
OMIM:600513 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder |
OMIM:617600 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure, Cognitive impairment, Polymicrogyria |
OMIM:300388 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment, Seizure |
OMIM:238700 |
Severe Primary Trimethylaminuria |
|
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... |
ORPHA:468726 |
Developmental And Epileptic Encephalopathy 98 |
|
Perisylvian polymicrogyria, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure,... |
OMIM:619605 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Mental de... |
ORPHA:2382 |
Dravet Syndrome |
|
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... |
OMIM:607208 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... |
OMIM:614417 |
Female Restricted Epilepsy With Intellectual Disability |
|
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Abnormal social behavior, Hype... |
ORPHA:101039 |
Continuous Spikes And Waves During Sleep |
|
Atypical absence seizure, Cognitive impairment, Atonic seizure, Focal hemiclonic seizure, Myoclon... |
ORPHA:725 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... |
OMIM:615400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Mental deterioration, Myoclonus, Attention deficit hyperactivity ... |
OMIM:619191 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, Mental deterioration, Bilateral tonic-clonic seizure |
OMIM:610003 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention d... |
OMIM:245570 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure, Polymicrogyria, Pachygyria |
OMIM:614115 |
Myoclonic Epilepsy Of Infancy |
|
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Mental deterioration, Febrile... |
ORPHA:86909 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus |
ORPHA:22 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... |
OMIM:616461 |
Familial Focal Epilepsy With Variable Foci |
|
Cognitive impairment, Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awar... |
ORPHA:98820 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Seizure, Abnormal social behavior |
ORPHA:436151 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Seizure |
OMIM:300271 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Dementia, Mental deterioration, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... |
OMIM:254800 |
Landau-Kleffner Syndrome |
|
Attention deficit hyperactivity disorder, Atypical absence seizure, Memory impairment, Hyperactiv... |
ORPHA:98818 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Mental deterioration |
OMIM:104290 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder |
OMIM:619639 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 9 |
|
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... |
OMIM:300088 |
Seizures, Benign Familial Infantile, 2 |
|
Focal-onset seizure, Generalized-onset seizure |
OMIM:605751 |
Benign Familial Infantile Epilepsy |
|
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:613721 |
Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Seizure |
OMIM:617796 |
Developmental And Epileptic Encephalopathy 94 |
|
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... |
OMIM:615369 |
Intellectual Developmental Disorder, X-Linked 1 |
|
No social interaction, Bilateral tonic-clonic seizure, Seizure, Atonic seizure |
OMIM:309530 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... |
OMIM:604403 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
ORPHA:101046 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria |
OMIM:600176 |
Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
Epilepsy, Pyridoxine-Dependent |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus |
OMIM:266100 |
Episodic Ataxia, Type 9 |
|
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:618357 |
Unilateral Focal Polymicrogyria |
|
Memory impairment, Abnormal nonverbal communicative behavior, Bilateral tonic-clonic seizure with... |
ORPHA:268947 |
Lissencephaly 10 |
|
Agyria, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-o... |
OMIM:618873 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Seizure |
OMIM:615493 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Poly... |
OMIM:604317 |
Pontocerebellar Hypoplasia, Type 14 |
|
Focal-onset seizure, Simplified gyral pattern, Delayed social development, Bilateral tonic-clonic... |
OMIM:619301 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Seizure |
OMIM:617643 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... |
OMIM:619157 |
Febrile Seizures, Familial, 1 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:609253 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:602477 |
Febrile Seizures, Familial, 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... |
OMIM:604352 |
Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... |
ORPHA:139426 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... |
OMIM:617924 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Seizure |
ORPHA:356996 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures |
OMIM:117100 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Cognitive impairment, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, F... |
ORPHA:36387 |
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 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... |
OMIM:617831 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Generalized myoclonic seizure... |
OMIM:611726 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... |
OMIM:616172 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Progressive Myoclonic Epilepsy Type 3 |
|
Photosensitive myoclonic seizure, Chin myoclonus, Dementia, Focal myoclonic seizure, Febrile seiz... |
ORPHA:263516 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... |
OMIM:613863 |
Pontocerebellar Hypoplasia, Type 15 |
|
Focal-onset seizure, Simplified gyral pattern, Delayed social development, Bilateral tonic-clonic... |
OMIM:619302 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Seizure |
OMIM:617113 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Seizure |
OMIM:616657 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... |
OMIM:615697 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Inap... |
ORPHA:412066 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:601217 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... |
OMIM:604233 |
Developmental And Epileptic Encephalopathy 99 |
|
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Perisylvian polymicrogyria, Focal-onse... |
OMIM:619606 |
Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic ... |
ORPHA:101071 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... |
OMIM:605021 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus |
OMIM:613608 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... |
OMIM:618587 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... |
OMIM:608096 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... |
ORPHA:1941 |
Rare Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure |
ORPHA:101685 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... |
ORPHA:363549 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Developmental And Epileptic Encephalopathy 34 |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, S... |
OMIM:616645 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... |
OMIM:607631 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Pachygyria, Seizure |
ORPHA:329329 |
Foxg1 Syndrome |
|
Impaired social interactions, Cognitive impairment, Focal-onset seizure, Poor eye contact, Pachyg... |
ORPHA:561854 |
Rasmussen Subacute Encephalitis |
|
Attention deficit hyperactivity disorder, Cognitive impairment, Memory impairment, Focal sensory ... |
ORPHA:1929 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Hyperactivity, Seizure |
OMIM:613402 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... |
OMIM:607682 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Subcortical heterotopia, Focal-onset seizure, Polymicrogyria |
OMIM:614483 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 1 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... |
OMIM:121200 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
Seizures, Benign Familial Infantile, 1 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... |
OMIM:601764 |
Pyridoxine-Dependent Epilepsy |
|
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... |
ORPHA:3006 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... |
OMIM:619317 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... |
ORPHA:178469 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Lissencephaly, Pachygyria, Polymicrogyria, Bilateral tonic-clonic seizure with generalized onset,... |
OMIM:618730 |
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 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Generalized myoclonic seizure, Focal-onset seizure, Focal impaired awareness seizure, Seizure, St... |
ORPHA:330050 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:609056 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure |
ORPHA:163721 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Abnormal lower motor neuron morphology, Atonic seizure, Generalized myoclonic s... |
ORPHA:2590 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619000 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Bilateral tonic-clonic seizure |
OMIM:608278 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-mot... |
OMIM:271980 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Status epilepticus, Generalized myoclonic-atoni... |
OMIM:619701 |
New-Onset Refractory Status Epilepticus |
|
Cognitive impairment, Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:363558 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure |
ORPHA:79137 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure, Infantile spasms |
ORPHA:250972 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:618856 |
Episodic Ataxia, Type 5 |
|
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... |
OMIM:613855 |
Seizures, Benign Familial Infantile, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... |
OMIM:607745 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Mental deterioration, Myoclonus, Seizure |
OMIM:615924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:609800 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Atonic seizure, Dementia, Motor deterioration, Mental deterioration, Focal-on... |
ORPHA:168491 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Seizure, Febrile seizure (within the age... |
OMIM:301008 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Bilateral Generalized Polymicrogyria |
|
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... |
ORPHA:208447 |
Guanidinoacetate Methyltransferase Deficiency |
|
Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal impaired awareness seizure, S... |
ORPHA:382 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... |
OMIM:619616 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Seizure, Infantile spasms |
OMIM:619031 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Frontotemporal dementia, Mental deterioration, Memory impairment |
ORPHA:275864 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
Matthew-Wood Syndrome |
|
Anophthalmia, Horseshoe kidney, Renal hypoplasia, Abnormal spleen morphology, Microphthalmia, Ann... |
ORPHA:2470 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Myoclonus |
OMIM:607876 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Seizure |
OMIM:609924 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:1945 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:617836 |
Familial Infantile Myoclonic Epilepsy |
|
Periventricular nodular heterotopia, Generalized myoclonic seizure, Focal-onset seizure, Limb myo... |
ORPHA:352582 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic seiz... |
ORPHA:485350 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Hyperactivity, Generalized non-motor (absence) seizure, Seizure |
OMIM:300558 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Microphthalmia, Anophthalmia |
OMIM:221950 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Mental deterioration |
OMIM:618093 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Myoclonic absence seizure, Typical absence seizure, Febrile seizure (wi... |
ORPHA:64280 |
Hyperprolinemia, Type I |
|
Hyperactivity, Seizure, Status epilepticus |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
Spastic Ataxia 5, Autosomal Recessive |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Cognitive impairment, Myoclonus |
OMIM:614487 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Seizure |
ORPHA:85288 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Atypical absence seizure, Tonic seizure, No social interaction, Bilateral tonic-clonic seizure wi... |
OMIM:619428 |
Severe Canavan Disease |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:314911 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... |
OMIM:617810 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized t... |
ORPHA:289266 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Seizure, Poor eye contact |
OMIM:300983 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Tonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years)... |
OMIM:618917 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... |
ORPHA:66624 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Myoclonic Epilepsy Of Lafora |
|
Dementia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal s... |
OMIM:254780 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus |
ORPHA:726 |
Pitt-Hopkins-Like Syndrome 1 |
|
Impaired social interactions, Generalized-onset seizure, Progressive language deterioration, Hype... |
OMIM:610042 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Focal hyperkinetic seizure, Nocturnal seizures, Bilateral tonic-clonic seiz... |
ORPHA:98784 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Myoclonic spasms, Progressive language deterioration, Dementia, Motor deter... |
ORPHA:79264 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
OMIM:616281 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure, Dementia |
OMIM:540000 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic seizure, Seizure, Myo... |
OMIM:610539 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Seizure |
OMIM:248510 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:488635 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Dementia, Cognitive impairment, Mental deterioration |
ORPHA:199354 |
Developmental And Epileptic Encephalopathy 4 |
|
Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic... |
OMIM:612164 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Progressive language deterioration, Hyperactivity, Bilateral tonic-clonic seizure with focal onse... |
ORPHA:163681 |
Dk1-Cdg |
|
Focal-onset seizure, Poor eye contact, Bilateral tonic-clonic seizure, Seizure, Infantile spasms |
ORPHA:91131 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Hyperactivity, Seizure |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 79 |
|
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, My... |
OMIM:618559 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:300423 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Generalized myoclonic seizure, Seizure |
OMIM:618090 |
Trisomy 13 |
|
Cognitive impairment, Abnormality of the ureter, Anophthalmia, Hydronephrosis, Microphthalmia, Ap... |
ORPHA:3378 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Glycine Encephalopathy |
|
Hyperactivity, Seizure, Myoclonus |
OMIM:605899 |
Lafora Disease |
|
Atypical absence seizure, Atonic seizure, Dementia, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:501 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Epileptic spasm, Polymicrogyria, S... |
ORPHA:88616 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure |
ORPHA:3129 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Inability to walk |
ORPHA:411986 |
Bilateral Polymicrogyria |
|
Cognitive impairment, Generalized-onset seizure, Perisylvian polymicrogyria, Generalized myocloni... |
ORPHA:268940 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure |
OMIM:618770 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:301058 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Generalized myoclonic seizure, Poor eye contact, Bilateral tonic-cloni... |
OMIM:615501 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cognitive impairment, Dementia, Motor deterioration, Generalized myoclonic seizure, Focal impaire... |
ORPHA:1947 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, Seizure |
OMIM:617169 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Focal myoclonic seizure |
ORPHA:464282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Seizure |
OMIM:300434 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Seizure |
OMIM:616977 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Convulsive status epilepticus, Focal-onset seizure |
OMIM:618760 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Multifocal seiz... |
OMIM:618170 |
Myoclonic-Astatic Epilepsy |
|
Impaired social interactions, Lack of peer relationships, Atonic seizure, Hyperactivity, Generali... |
ORPHA:1942 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Myoclonus, Nocturnal se... |
OMIM:619725 |
Jeavons Syndrome |
|
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... |
ORPHA:139431 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Seizure |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Seizure |
OMIM:300979 |
Juvenile Huntington Disease |
|
Dementia, Seizure, Myoclonus, Hyperactivity |
ORPHA:248111 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Seizure |
OMIM:618362 |
Microphthalmia, Isolated 3 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
X-Linked Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Attention defic... |
ORPHA:777 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Anophthalmia, Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Pelvic kidn... |
OMIM:601186 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:457205 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus |
ORPHA:529665 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure |
ORPHA:369840 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Seizure |
OMIM:274270 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Ataxia, Hepatomegaly, Gait disturbance, Difficulty walking |
ORPHA:90322 |
Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure |
OMIM:272300 |
Microgastria-Limb Reduction Defects Association |
|
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Horseshoe kidney, Splenogo... |
OMIM:156810 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonus |
ORPHA:313772 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Pachygyria, Focal-onset... |
OMIM:619091 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Fragile X Syndrome |
|
Periventricular heterotopia, Hyperactivity, Seizure, Poor eye contact |
OMIM:300624 |
Ck Syndrome |
|
Hyperactivity, Seizure, Polymicrogyria, Pachygyria |
ORPHA:251383 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Focal impaired awareness seizure, Polymicrogyria, Seizure, Bilateral tonic-clonic seizure |
ORPHA:488613 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Fatigable weakness of neck muscles, Fatigable weakness, Febrile s... |
ORPHA:42 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Impaired social interactions, Tonic seizure, Atonic seizure, Hyperactivity, Generalized myoclonic... |
OMIM:300912 |
Epilepsy, Nocturnal Frontal Lobe, 5 |
|
Cognitive impairment, Focal-onset seizure, Status epilepticus |
OMIM:615005 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... |
ORPHA:98795 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure, Infantile spasms |
ORPHA:79243 |
Ck Syndrome |
|
Hyperactivity, Seizure, Polymicrogyria, Pachygyria |
OMIM:300831 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cognitive impairment, Generalized myoclonic seizure, Mental deterioration, Focal-onset seizure, B... |
ORPHA:395 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Hypoplasia of penis |
ORPHA:66625 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cognitive impairment, Hyperactivity, Status epilepticus, Progressive psychomotor deterioration, S... |
ORPHA:363400 |
X-Linked Intellectual Disability, Hedera Type |
|
Bilateral tonic-clonic seizure, Atonic seizure |
ORPHA:93952 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Tonic seizure, Focal impaired awareness seizure, Epileptic spasm, Bilateral tonic-clonic seizure,... |
OMIM:619580 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure, Lissencephaly |
ORPHA:99742 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Status epilepticus, Poor eye contact, Bilateral tonic-clonic seizure, Seizure, Myoclonus |
ORPHA:364028 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Hydronephrosis, Anophthalmia, Congenital megaureter |
ORPHA:261344 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:457240 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Phenylketonuria |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder |
OMIM:261600 |
Angelman Syndrome |
|
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Poor eye ... |
ORPHA:72 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Semantic dementia, Memory impairment, Abnormal social behavior, Dementia, Seizure, Myoclonus |
ORPHA:1020 |
Infantile Cerebellar-Retinal Degeneration |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:614559 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Seizure, Infantile spasms |
ORPHA:544503 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias, Hypoplasia of penis |
ORPHA:77298 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Seizure |
OMIM:617752 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Microphthalmia, Aniridia, Asplenia |
OMIM:602361 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure |
OMIM:613192 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder |
OMIM:618504 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Tonic seizure, Seizure, Infantile spasms |
OMIM:619239 |
Cln5 Disease |
|
Generalized-onset seizure, Hyperactivity, Mental deterioration, Focal myoclonic seizure, Focal-on... |
ORPHA:228360 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Proteinuria, Hepatomegaly, Ataxia, Gait disturbance, Anemia, Renal insufficiency, D... |
ORPHA:90321 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:169400 |
Microphthalmia, Syndromic 5 |
|
Micropenis, Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610125 |
Meckel Syndrome |
|
Anophthalmia, Accessory spleen, Ureteral duplication, Pancreatic cysts, Multicystic kidney dyspla... |
ORPHA:564 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:615516 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Seizure |
OMIM:612716 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Early Infantile Epileptic Encephalopathy |
|
Atonic seizure, Generalized clonic seizure, Hyperactivity, Focal-onset seizure, Febrile seizure (... |
ORPHA:1934 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure |
OMIM:616351 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Focal impaired awareness seizure, Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:369929 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of penis |
ORPHA:899 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Bilateral tonic-clonic seizure, Mental deterioration, Focal-onset seizure |
ORPHA:329308 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Generalized myoclonic seizure, Poor eye contact, Bilateral tonic-clonic seizure, Generalized non-... |
ORPHA:457351 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder |
OMIM:301013 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Generalized tonic seizure... |
ORPHA:480864 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormal cortical gyration, Atonic seizure, Generalized myoclonic seizure, Focal emotional seizur... |
ORPHA:79351 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Seizure |
OMIM:618718 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Seizure |
ORPHA:457260 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Seizure |
OMIM:615286 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Seizure |
OMIM:615824 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure |
ORPHA:453510 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Bilateral tonic-clonic seizure |
OMIM:608809 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Seizure |
OMIM:252920 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Seizure |
OMIM:619467 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Seizure |
OMIM:300143 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Seizure, Abnormal social behavior |
ORPHA:530983 |
Sandhoff Disease |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Progressive psychomotor deterioration |
OMIM:268800 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Seizure |
ORPHA:411515 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Horseshoe kidney, Crossed fused renal ectopia, Hepatomegaly, Multicystic kidney dys... |
ORPHA:2538 |
Joubert Syndrome 21 |
|
Renal cyst, Anophthalmia, Ataxia |
OMIM:615636 |
Holoprosencephaly |
|
Anophthalmia, Cognitive impairment, Proteinuria, Hypoplasia of penis, Microphthalmia, Abnormality... |
ORPHA:2162 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Status epilepticus, Generalized-onset seizure |
OMIM:618314 |
Nivelon-Nivelon-Mabille Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:600092 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seizure |
ORPHA:481152 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure, Seizure |
OMIM:617193 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Fibular Hemimelia |
|
Anophthalmia, Thrombocytopenia, Difficulty walking |
ORPHA:93323 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Motor deterioration, Seizure |
OMIM:252930 |
Japanese Encephalitis |
|
Cognitive impairment, Status epilepticus, Paucity of anterior horn motor neurons, Focal motor sei... |
ORPHA:79139 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Seizure |
ORPHA:3077 |
Developmental And Epileptic Encephalopathy 95 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Multifocal seizures, Status epilept... |
OMIM:618143 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618733 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Hyperactivity, Poor eye contact, Shyness, Seizure, Attention defici... |
ORPHA:449291 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Seizure, Poor eye contact |
OMIM:610883 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Seizure |
OMIM:300958 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Micropenis, Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Hypospadias |
OMIM:206900 |
Biotinidase Deficiency |
|
Generalized myoclonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure, Infa... |
ORPHA:79241 |
Hermansky-Pudlak Syndrome 10 |
|
Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Mend Syndrome |
|
Hyperactivity, Seizure |
OMIM:300960 |
1Q44 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:238769 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Cognitive impairment, Seizure |
OMIM:601853 |
Melas |
|
Memory impairment, Dementia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Myoclonus |
ORPHA:550 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:3044 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:619313 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:619435 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus |
ORPHA:247262 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Mental deterioration, Seizure, Psychomotor deterioration |
ORPHA:35069 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:614104 |
Developmental And Epileptic Encephalopathy 14 |
|
Status epilepticus, Poor eye contact |
OMIM:614959 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:423479 |
Alternating Hemiplegia Of Childhood |
|
Progressive neurologic deterioration, Focal motor seizure, Bilateral tonic-clonic seizure, Seizur... |
ORPHA:2131 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Convulsive status epilepticus, Seizure |
OMIM:616716 |
14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia, Anophthalmia, Optic nerve aplasia |
ORPHA:264200 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Polymicrogyria, Seizure |
ORPHA:457485 |
47,Xyy Syndrome |
|
Impaired social interactions, Hyperactivity, Seizure, Attention deficit hyperactivity disorder |
ORPHA:8 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Seizure |
ORPHA:500180 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of penis |
ORPHA:2250 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:615474 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Mental deterioration |
OMIM:278800 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Seizure, Myoclonus, Poor eye contact |
OMIM:103050 |
Lujo Hemorrhagic Fever |
|
Bilateral tonic-clonic seizure, Mental deterioration, Seizure |
ORPHA:319213 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bilateral tonic-clonic seizure, Atonic seizure |
ORPHA:2976 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Febrile seizure (within the age range ... |
ORPHA:496641 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615802 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:466943 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Bilateral tonic-clonic seizure, Hyperactivity, Myoclonic spasms, Infantile spasms |
ORPHA:447997 |
Mirage Syndrome |
|
Hypoplastic spleen, Leukopenia, Thrombocytopenia, Anemia, Microphallus, Lymphopenia, Hypospadias |
OMIM:617053 |
Fraser Syndrome 1 |
|
Anophthalmia, Micropenis, Renal hypoplasia, Abnormality of the thymus, Bilateral microphthalmos, ... |
OMIM:219000 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Attention deficit hyperactivity disorder,... |
ORPHA:466950 |
X Small Rings |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:96201 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Tonic seizure, Hyperactivity |
OMIM:619512 |
Pearson Syndrome |
|
Glycosuria, Exocrine pancreatic insufficiency, Renal cyst, Lacticaciduria, Pancytopenia, Hypoplas... |
ORPHA:699 |
Charge Syndrome |
|
Anophthalmia, Horseshoe kidney, Micropenis, Hydronephrosis, Renal hypoplasia, Microphthalmia, Sel... |
OMIM:214800 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Seizure |
OMIM:252900 |
D-Bifunctional Protein Deficiency |
|
Bilateral tonic-clonic seizure, Polymicrogyria, Seizure |
OMIM:261515 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Aniridia |
ORPHA:1101 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... |
ORPHA:369837 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Memory impairment, Hyperactivity, Mental deterioration, Limb myoclonus, Seizure |
ORPHA:139396 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Infantile spasms |
ORPHA:255210 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
OMIM:605627 |
Hallermann-Streiff Syndrome |
|
Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:234100 |
Proboscis Lateralis |
|
Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Duplication of renal pelvis, Ure... |
ORPHA:141099 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:79124 |
Holoprosencephaly 9 |
|
Micropenis, Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:610829 |
Cocaine Intoxication |
|
Focal-onset seizure, Atypical absence status epilepticus, Bilateral tonic-clonic seizure, Seizure... |
ORPHA:90068 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Impaired social interactions, Hyperactivity, Seizure |
OMIM:309520 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal penis morphology, Microphthalmia, Epispadias, Hypospadias |
ORPHA:2556 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Myo... |
OMIM:619297 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Leukemia |
ORPHA:2526 |
X-Linked Adrenoleukodystrophy |
|
Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:43 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Focal-onset seizure, Infantile spasms, Poor eye contact, Bilateral tonic-clonic seizure, Seizure,... |
OMIM:301044 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Bifid ureter, Horseshoe kidney, Ureteral duplication, Hydronephrosis, Microphthalmi... |
OMIM:305600 |
Fraser Syndrome |
|
Anophthalmia, Renal hypoplasia, Hypoplasia of penis, Multicystic kidney dysplasia, Microphthalmia... |
ORPHA:2052 |
Charge Syndrome |
|
Anophthalmia, Horseshoe kidney, Micropenis, Hydronephrosis, Microphthalmia, Vesicoureteral reflux |
ORPHA:138 |
Oliver Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2920 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Seizure |
ORPHA:52503 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Mental deterioration, Seizure |
OMIM:610217 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Seizure |
ORPHA:488627 |
Legius Syndrome |
|
Hyperactivity, Cognitive impairment, Seizure, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Bilateral tonic-clonic seizure, Poor eye contact |
OMIM:252010 |
Citrullinemia Type Ii |
|
Hyperactivity, Seizure, Memory impairment |
ORPHA:247585 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:257300 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Seizure, Att... |
OMIM:614756 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Bilateral tonic-clonic... |
ORPHA:513456 |
Leigh Syndrome With Nephrotic Syndrome |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:255249 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Febrile seizure (within t... |
ORPHA:268261 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:99885 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Impaired social interactions, Bilateral tonic-clonic seizure |
ORPHA:457359 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:300166 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized t... |
ORPHA:459070 |
Branchiooculofacial Syndrome |
|
Renal cyst, Anophthalmia, Microphthalmia, Ectopic thymus tissue, Hypospadias |
OMIM:113620 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Renal hypoplasia, Aggressive behavior, Microphthalmia, Self-mutilation, Hydroureter... |
OMIM:309800 |
Choreoacanthocytosis |
|
Hyperactivity, Mental deterioration, Bradyphrenia, Bilateral tonic-clonic seizure, Seizure |
ORPHA:2388 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Renal hypoplasia, Anophthalmia |
OMIM:607932 |
Gaucher Disease |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:355 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Hyperactivity, Focal-onset seizure, Epileptic spasm, Seizure, Infantile... |
ORPHA:805 |
Argininemia |
|
Hyperactivity, Seizure |
OMIM:207800 |
Doors Syndrome |
|
Bilateral tonic-clonic seizure, Polymicrogyria, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Orofaciodigital Syndrome Type 2 |
|
Bilateral tonic-clonic seizure |
ORPHA:2751 |
Craniofacial Microsomia |
|
Ectopic kidney, Anophthalmia, Multicystic kidney dysplasia, Microphthalmia, Ureteropelvic junctio... |
OMIM:164210 |
Sotos Syndrome |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, ... |
ORPHA:821 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bilateral tonic-clonic seizure on awakening, Generalized tonic seizure, Epileptic spasm, Seizure,... |
ORPHA:438213 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |