Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
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 |
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 10 |
|
Seizure |
OMIM:611096 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
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 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... |
OMIM:615400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:619964 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset |
OMIM:611630 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... |
OMIM:616461 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure |
OMIM:117100 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
|
Photosensitive tonic-clonic seizure |
OMIM:226800 |
Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... |
OMIM:254770 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... |
OMIM:600669 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:616685 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604233 |
Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:605021 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... |
OMIM:121200 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616172 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... |
OMIM:613863 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:615127 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... |
OMIM:618357 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:613060 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Seizure |
OMIM:617643 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... |
OMIM:615697 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... |
OMIM:608096 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Polymicrogy... |
OMIM:604213 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Fusion of the caudate and putamen, Hypoplasia of the corpus cal... |
OMIM:614039 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebral atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:611726 |
Perioral Myoclonia With Absences |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:139426 |
Juvenile Absence Epilepsy |
|
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... |
OMIM:615369 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:609446 |
Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... |
ORPHA:65683 |
Rare Non-Syndromic Intellectual Disability |
|
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Bilateral toni... |
ORPHA:101685 |
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:600176 |
Lissencephaly 3 |
|
Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Cerebellar vermis hypopl... |
OMIM:611603 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure |
OMIM:300388 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Developmental And Epileptic Encephalopathy 98 |
|
Thick corpus callosum, Perisylvian polymicrogyria, Clonic seizure, Cerebral atrophy, Bilateral to... |
OMIM:619605 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... |
ORPHA:101046 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... |
OMIM:615871 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Seizure, Ab... |
ORPHA:101029 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure |
OMIM:162350 |
Lissencephaly 4 |
|
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Seizure, Simplified gyral pattern, Co... |
OMIM:614019 |
Dravet Syndrome |
|
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... |
OMIM:607208 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 99 |
|
Status epilepticus, Thick corpus callosum, Perisylvian polymicrogyria, Focal hemiclonic seizure, ... |
OMIM:619606 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Infantile spasms, Polymicrogyria, Bilateral t... |
ORPHA:250972 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness seizure, Cerebellar at... |
OMIM:610003 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... |
OMIM:617831 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Microcephaly, Hypoplasia... |
OMIM:618730 |
Seizures, Benign Familial Infantile, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... |
OMIM:601764 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Seizure, Agen... |
ORPHA:85179 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Generalized myoclonic seizure, Infantile spasms, Cortical dysplasia, Thick c... |
ORPHA:101071 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Infantile spasms, Myoclonic seizure, Cerebellar hypoplasia, Bilateral ton... |
OMIM:619301 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:245570 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure |
OMIM:618924 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:601217 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... |
OMIM:617935 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure |
OMIM:616409 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... |
OMIM:607745 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... |
OMIM:607682 |
Developmental And Epileptic Encephalopathy 34 |
|
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... |
OMIM:616645 |
Pontocerebellar Hypoplasia, Type 15 |
|
Infantile spasms, Cerebellar hypoplasia, Myoclonic seizure, Partial agenesis of the corpus callos... |
OMIM:619302 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Developmental And Epileptic Encephalopathy 13 |
|
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:614558 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... |
ORPHA:363549 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... |
OMIM:204300 |
Band Heterotopia |
|
Agenesis of corpus callosum, Subcortical band heterotopia, Polymicrogyria, Seizure |
OMIM:600348 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... |
OMIM:618959 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... |
OMIM:617113 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... |
ORPHA:725 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... |
ORPHA:101039 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Lissencephaly, Seizure, Pachygyria, Agenesis of corpus callosum |
OMIM:300067 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Generalized-onset seizure, Agenesis of corpus callosum |
ORPHA:459074 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure |
ORPHA:163721 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microcephaly, Cerebellar hypoplasia, Seizure, Simplified gyral pattern, Microlissencephaly, Agene... |
OMIM:617090 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Microcephaly, Bilateral tonic-clonic seizure, Cortical dysplasia, Cerebellar atrophy |
OMIM:608278 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... |
OMIM:616139 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, S... |
OMIM:618492 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum, Generalized myoclonic seizure |
ORPHA:85334 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
ORPHA:2382 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Seizure |
OMIM:309530 |
Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:254800 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly... |
ORPHA:255182 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partial agenesis of t... |
OMIM:304100 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Seizure |
OMIM:613163 |
Microlissencephaly |
|
Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical... |
ORPHA:1083 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Hypoplasia of the pons, Cortic... |
ORPHA:300573 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Seizure |
OMIM:300864 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Microcephaly, Myoclonus, Hypoplasia of the pons, Seizure, Agenesis of ... |
OMIM:617669 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... |
OMIM:618587 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebral atrophy, Myoclonus, Microcephaly, Limb myoclonus, Febrile seizure (within the age range ... |
ORPHA:263516 |
Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... |
OMIM:614018 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Seizure |
OMIM:616681 |
Familial Focal Epilepsy With Variable Foci |
|
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... |
ORPHA:98820 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Reduced amygdala volume, Tonic seizure, Microcephaly, Myoclonic seizure, Abnormal dentate nucleus... |
OMIM:619517 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure |
OMIM:612621 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Bilateral tonic-clonic seizure, Seizure |
ORPHA:329329 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Myoclonic Epilepsy Of Infancy |
|
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... |
ORPHA:86909 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Status epilepticus, Cerebral atrophy, Microcephaly, Infantile spasms, Hypoplasia of the corpus ca... |
OMIM:619701 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... |
OMIM:619157 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Primary microcephaly, Cerebellar hypoplasia, Polymicrogyria |
ORPHA:171703 |
Lissencephaly 10 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... |
OMIM:618873 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... |
OMIM:613855 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... |
OMIM:619338 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral whi... |
OMIM:614559 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Hypoplasia of the ... |
ORPHA:178469 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619191 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
OMIM:619466 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Diffuse cere... |
ORPHA:330050 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure |
OMIM:619000 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure |
ORPHA:208441 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:615942 |
Bilateral Frontoparietal Polymicrogyria |
|
Typical absence seizure, Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized... |
ORPHA:101070 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Cerebellar... |
OMIM:616981 |
Bilateral Generalized Polymicrogyria |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... |
ORPHA:208447 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... |
ORPHA:500166 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Abnormal hippocampus morphology, Generaliz... |
ORPHA:352582 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:618856 |
Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus |
OMIM:616230 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... |
OMIM:615937 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cerebellar a... |
OMIM:300423 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Status epilepticus, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Hypoplasia of the ... |
ORPHA:477774 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... |
ORPHA:36387 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum, Seizure |
OMIM:619548 |
Developmental And Epileptic Encephalopathy 79 |
|
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical atro... |
OMIM:618559 |
Glycine Encephalopathy |
|
Myoclonus, Agenesis of corpus callosum, Seizure |
OMIM:605899 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Agenesis of corpus callosum, Cerebral atrophy, Seizure |
OMIM:274270 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cerebel... |
ORPHA:488635 |
Juvenile Myoclonic Epilepsy |
|
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... |
ORPHA:307 |
Guanidinoacetate Methyltransferase Deficiency |
|
Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-... |
ORPHA:382 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Microcephaly, Infantile spasms, Myoclonic seizure, Hypoplasia of the corpus callosum, Bilateral t... |
OMIM:619616 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior commissure, Seiz... |
OMIM:617542 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Status epilepticus, Cerebral hypoplasia, Microcephaly, Myoclonic seizure, Cerebellar hypoplasia, ... |
ORPHA:168486 |
Landau-Kleffner Syndrome |
|
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... |
ORPHA:98818 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Developmental And Epileptic Encephalopathy 102 |
|
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... |
OMIM:619881 |
Pyridoxine-Dependent Epilepsy |
|
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... |
ORPHA:3006 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, Bilateral... |
OMIM:619317 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Seizure, Agenesis of corpus ca... |
OMIM:618766 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Schizencephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Porencephali... |
OMIM:614483 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Abnormal cerebellum morphology, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Seizure |
OMIM:204200 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Generalized tonic seizure, Myoclonus, Epileptic spasm, Hypoplasia of the corpus callosum, Febrile... |
ORPHA:289266 |
Epilepsy, Early-Onset, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:609056 |
Developmental And Epileptic Encephalopathy 106 |
|
Tonic seizure, Focal clonic seizure, Microcephaly, Infantile spasms, Cerebellar hypoplasia, Bilat... |
OMIM:620028 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Clonic seizure, Cerebral atrophy, Tonic seizure, Febrile seizure (within the age range of 3 month... |
OMIM:618917 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure |
OMIM:618770 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... |
ORPHA:255138 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, Myoclonic seizure, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, General... |
OMIM:617810 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Generalized myoclonic seizure |
OMIM:617836 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Seizure |
ORPHA:2508 |
Corpus Callosum, Agenesis Of |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619065 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure |
OMIM:613970 |
Foxg1 Syndrome |
|
Status epilepticus, Myoclonus, Infantile spasms, Hypoplasia of the corpus callosum, Bilateral ton... |
ORPHA:561854 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... |
OMIM:614833 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Microcephaly, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:616281 |
New-Onset Refractory Status Epilepticus |
|
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Abnormal basal g... |
ORPHA:363558 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Cerebellar hypoplasia, Seizure, Hydranencephaly, Agenesis of corpus callosum, Dandy... |
OMIM:225790 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Seizure, Agenesis of corpus callosum |
OMIM:616342 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Myoclonus, Agenesis of corpus callosum, Seizure |
OMIM:250620 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Atonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 61 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure |
OMIM:617933 |
Alpers-Huttenlocher Syndrome |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure |
ORPHA:726 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... |
OMIM:271980 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Focal impaired awareness seizure, Myoclonus, Microcephaly, Infantile s... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 4 |
|
Status epilepticus, Cerebral atrophy, Generalized myoclonic seizure, Generalized tonic seizure, E... |
OMIM:612164 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Microcephaly, Basal ganglia cysts, Seizure, Agenesis of corpus callosum |
OMIM:312170 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Severe Canavan Disease |
|
Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Megalencephaly, Seizure |
ORPHA:314911 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Seizure |
ORPHA:2101 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... |
OMIM:616212 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum |
OMIM:166990 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar vermis atrophy, Cerebral atrophy, Microcephaly, Bilateral tonic-clonic seizure, Genera... |
OMIM:618170 |
Dravet Syndrome |
|
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... |
ORPHA:33069 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... |
OMIM:619854 |
Developmental And Epileptic Encephalopathy 103 |
|
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Myoclo... |
OMIM:619913 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Cerebral atrophy, Cerebellar gliosis, Basal ganglia cysts, Microcephaly, ... |
ORPHA:79243 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Status epilepticus, Clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, S... |
OMIM:610539 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Focal impaired awareness seizure, Generalized myoclonic seizure, Cerebral atrophy, Bilateral toni... |
ORPHA:1947 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro... |
ORPHA:89844 |
Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Seizure |
OMIM:164180 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum, Seizure |
OMIM:618238 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II... |
OMIM:613153 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly, Seizure |
OMIM:618010 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Convulsive status epilepticus, Focal-onset seizure |
OMIM:618760 |
3-Methylglutaconic Aciduria, Type Viia |
|
Atypical absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized-onset se... |
OMIM:619835 |
Rasmussen Subacute Encephalitis |
|
Focal sensory seizure with somatosensory features, Focal motor seizure, Bilateral tonic-clonic se... |
ORPHA:1929 |
Hemimegalencephaly |
|
Status epilepticus, Focal motor seizure, Atonic seizure, Myoclonus, Epileptic spasm, Polymicrogyr... |
ORPHA:99802 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the optic tract, Myoclonus, Hypoplasia of the pons, Epil... |
ORPHA:500144 |
Rolandic Epilepsy |
|
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:1945 |
Microhydranencephaly |
|
Generalized myoclonic seizure, Microcephaly, Cerebellar hypoplasia, Pachygyria, Hydranencephaly, ... |
OMIM:605013 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Status epilepticus, Cerebral cortical atrophy, Cerebral atrophy, Myoclonus, Microcephaly, Cerebel... |
OMIM:616672 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure |
OMIM:301058 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... |
ORPHA:2590 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Cerebellar atrophy |
OMIM:618237 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Unilateral Focal Polymicrogyria |
|
Focal motor seizure, Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Bilateral t... |
ORPHA:268947 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Generalized myoclonic seizure, Microcephaly, Hypoplasia of the corpus callosum,... |
ORPHA:464282 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Agenesis of corpus callosum, Seizure |
OMIM:615286 |
Subependymal Nodular Heterotopia |
|
Focal aware seizure, Limb myoclonus, Polymicrogyria, Partial agenesis of the corpus callosum, Foc... |
ORPHA:101030 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:612948 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum, Cerebellar atrophy |
OMIM:610245 |
Amish Lethal Microcephaly |
|
Microcephaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Lissencephaly, Agenes... |
ORPHA:99742 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Seizure, Ag... |
OMIM:618603 |
Sarcosinemia |
|
Bilateral tonic-clonic seizure |
ORPHA:3129 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum |
ORPHA:166024 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Hypoplasia of the corpus callosum |
ORPHA:262767 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... |
ORPHA:139431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Cortical dysplasia, Anencephaly, Cerebellar hypoplasia, Type II lissencephaly, Seizure, Agenesis ... |
OMIM:615287 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... |
ORPHA:238722 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Status epilepticus, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Cerebellar atrophy, Se... |
ORPHA:529665 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Microcephaly, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Thin corpus cal... |
OMIM:619877 |
Sulfite Oxidase Deficiency, Isolated |
|
Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Hyperinten... |
OMIM:272300 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Cortical myoclonus, Atonic seizure, Cerebral atrophy, Generalized myoclo... |
ORPHA:168491 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum, Liss... |
OMIM:218670 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Myoclonic seizure, Hypoplasi... |
OMIM:619091 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Seizure, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Seizure |
OMIM:619911 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Abnormal cerebellum morphology, Diffuse white matter abnormalities, Microcephaly, Optic nerve hyp... |
ORPHA:370959 |
X-Linked Intellectual Disability, Hedera Type |
|
Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum, Cerebellar atrophy, Atonic sei... |
ORPHA:93952 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Status epilepticus, Microcephaly, Partial agenesis of the corpus callosum, Seizure |
OMIM:618346 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly, Seizure |
OMIM:245349 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, Myoclonus, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, ... |
ORPHA:313772 |
Baraitser-Winter Syndrome 2 |
|
Lissencephaly, Seizure, Pachygyria, Secondary microcephaly, Agenesis of corpus callosum |
OMIM:614583 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
OMIM:300558 |
Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Seizure |
ORPHA:380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly, Seizure, Progr... |
OMIM:615249 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Microcephaly, Bilateral tonic-clonic seizure, Generalized-onset seizure, Lissencephaly, Seizure, ... |
OMIM:619827 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Agenesis of corpus c... |
OMIM:619989 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Status epilepticus, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar atrophy, Seizure,... |
OMIM:616239 |
Maternal Uniparental Disomy Of Chromosome X |
|
Microcephaly, Agenesis of corpus callosum, Seizure |
ORPHA:261519 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of ... |
OMIM:600118 |
Pontocerebellar Hypoplasia Type 2 |
|
Bilateral tonic-clonic seizure with generalized onset, Hypoplasia of the ventral pons, Dysplastic... |
ORPHA:2524 |
Spastic Ataxia 5, Autosomal Recessive |
|
Myoclonus, Bilateral tonic-clonic seizure, Cerebellar atrophy, Generalized myoclonic seizure |
OMIM:614487 |
Craniofacial Dyssynostosis With Short Stature |
|
Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
OMIM:218350 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Cerebellar atrophy |
OMIM:618093 |
Craniotelencephalic Dysplasia |
|
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Septo-optic dysplasia, Agene... |
ORPHA:1528 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
OMIM:618577 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum |
OMIM:211200 |
Myoclonic Epilepsy Of Lafora |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... |
OMIM:254780 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cerebral white matter atrophy, Microcephaly, Bilateral tonic-clonic seizure |
ORPHA:369840 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Absent septum pellucidum, Seizure |
ORPHA:2182 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Atypical absence seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Masa Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:303350 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Myoclonic spasms, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral... |
ORPHA:79264 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Seizure |
ORPHA:1496 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:457205 |
6Q25 Microdeletion Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Seizure |
ORPHA:251056 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:607876 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Focal-onset seizure |
ORPHA:91131 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Abnormal periventricular white ... |
OMIM:618476 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy, Bilateral tonic-cloni... |
ORPHA:275864 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Seizure |
OMIM:300215 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G... |
OMIM:617600 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Basal ganglia calcification, Microcephaly, Cerebellar hypoplasia, Diffuse cerebral atrophy, Cereb... |
OMIM:214150 |
Acromelic Frontonasal Dysostosis |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Retrocerebellar cyst, Seizure |
OMIM:603671 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
OMIM:613735 |
Pontocerebellar Hypoplasia, Type 13 |
|
Status epilepticus, Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cere... |
OMIM:618606 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Lissencephaly, Seizure, Agenesis of corpus callosum |
OMIM:618142 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Microcephaly, Bilateral tonic-clonic seizure, Cerebellar dysplasia, Seizure |
ORPHA:457240 |
4Q21 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Seizure |
ORPHA:238750 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... |
ORPHA:98795 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia |
OMIM:607196 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the corpus callosum, Po... |
ORPHA:300570 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Microcephaly, Infantile spasms, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure... |
ORPHA:544503 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Bil... |
OMIM:615501 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes |
ORPHA:2512 |
Childhood Absence Epilepsy |
|
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:64280 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Dysgenesis of the hippocampus, Infantile spasms, Agenesis of corpus callosum, Seizure |
OMIM:619320 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Tonic seizure, Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Prim... |
OMIM:616051 |
Posttransplant Acute Limbic Encephalitis |
|
Myoclonus, Abnormal hippocampus morphology, Seizure |
ORPHA:163921 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Seizure |
OMIM:300952 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618120 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Hypoplasia of the... |
OMIM:601160 |
Lafora Disease |
|
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... |
ORPHA:501 |
Ritscher-Schinzel Syndrome 4 |
|
Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Focal-onset seizure, Dysgenesis of the hip... |
OMIM:619435 |
Craniosynostosis 6 |
|
Microcephaly, Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker malformation, Abnorma... |
OMIM:616602 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... |
OMIM:604360 |
Bilateral Polymicrogyria |
|
Perisylvian polymicrogyria, Generalized myoclonic seizure, Aplasia/Hypoplasia of the cerebral whi... |
ORPHA:268940 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum, Seizure |
ORPHA:452 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:619983 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
OMIM:616362 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... |
OMIM:618736 |
Vici Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Seizure, Agenesis of co... |
ORPHA:1493 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Agenesis of corpus callosum, Inferior cerebellar vermis hypoplasia, Seizure |
ORPHA:139471 |
Canavan Disease |
|
Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:271900 |
Nivelon-Nivelon-Mabille Syndrome |
|
Microcephaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Focal-onset seizure, ... |
OMIM:600092 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Seizure, Simplified... |
OMIM:619244 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Microcephaly, Nocturnal seizures, Myoclonus, Bilateral tonic-clonic seizure, Abnormal periventric... |
OMIM:619725 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Agenesis of corpus callosum, Seizure |
OMIM:218000 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum, Seizure |
OMIM:175700 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, F... |
ORPHA:481152 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Deep cerebral white matter hyperintensities, Diffuse cerebral atrophy, Bilateral tonic-clonic sei... |
ORPHA:199354 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
D-Glyceric Aciduria |
|
Status epilepticus, Cerebral cortical atrophy, Focal clonic seizure, Optic nerve hypoplasia, Myoc... |
OMIM:220120 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... |
OMIM:616819 |
Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Seizure, Porencepha... |
OMIM:613001 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure |
ORPHA:488613 |
Migraine, Familial Hemiplegic, 2 |
|
Focal motor seizure, Bilateral tonic-clonic seizure, Cerebral edema, Cerebellar atrophy |
OMIM:602481 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Status epilepticus, Myoclonus, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, B... |
ORPHA:364028 |
X-Linked Non-Syndromic Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure |
ORPHA:777 |
Walker-Warburg Syndrome |
|
Macrogyria, Microcephaly, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Polymicro... |
ORPHA:899 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Pachygyria, Microcephaly, Cerebellar hypoplasia, Partial absence of cerebellar vermis, Type II li... |
OMIM:613150 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Leukoencephalopathy, Secondary microcephaly, Bilateral tonic-clonic seizure, Corpus callosum atrophy |
OMIM:608809 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Imagawa-Matsumoto Syndrome |
|
Agenesis of corpus callosum, Polymicrogyria |
OMIM:618786 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum |
OMIM:617127 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Cerebral cortical atrophy, Focal impaired awareness seizure, Tonic seizure, ... |
OMIM:620024 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Microcephaly, Myoclonic seizure,... |
OMIM:619580 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, ... |
OMIM:615802 |
Slc35A2-Cdg |
|
Cerebral atrophy, Microcephaly, Infantile spasms, Cortical dysplasia, Hypoplasia of the corpus ca... |
ORPHA:356961 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Jaberi-Elahi Syndrome |
|
Cerebellar vermis atrophy, Substantia nigra hypointensity on susceptibility-weighted imaging, Mic... |
OMIM:617988 |
Temtamy Syndrome |
|
Agenesis of corpus callosum, Seizure |
OMIM:218340 |
Fumarase Deficiency |
|
Status epilepticus, Cerebral atrophy, Open operculum, Microcephaly, Polymicrogyria, Agenesis of c... |
OMIM:606812 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral hypoplasia, Atonic seizure, Generalized myoclonic seizure, Microcephaly, Epileptic spasm... |
ORPHA:79351 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure |
ORPHA:98784 |
Ring Chromosome 22 Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Absent septum pellucidum, Seizure |
ORPHA:1446 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cer... |
ORPHA:329308 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Primary microcephal... |
ORPHA:478029 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Bilateral tonic-clonic seizure |
ORPHA:79350 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe... |
ORPHA:86822 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum, Seizure |
OMIM:613174 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Microcephaly, Agenesis of corpus callosum, Seizure |
OMIM:300004 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Abnormal hippocampus morphology, Hypoplasia of the corpus callosum, Seizure |
ORPHA:401777 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Generalized tonic seizure, Microcephaly, Epileptic spasm, Hypoplasia of the corpus callosum, Diff... |
OMIM:617193 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Microcephaly, Agenesis of corpus callosum, Seizure |
ORPHA:261144 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Lissencephaly, Seizure, Pachygyria, Agenesis of corpus callosum |
OMIM:243310 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Microcephaly, Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Seizure |
OMIM:612337 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... |
OMIM:619103 |
Marden-Walker Syndrome |
|
Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Seizure, Agenesis of ... |
OMIM:248700 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebral cortical atrophy, Microcephaly, Cerebellar vermis hypoplasia, Seizure, Thin corpus callo... |
OMIM:619720 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure |
OMIM:616351 |
Septo-Optic Dysplasia Spectrum |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Septo-... |
ORPHA:3157 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... |
OMIM:604804 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Microcephaly, Cerebellar vermis hypoplasia, Primary microcephaly, Agenesis of corpus callosum |
ORPHA:466688 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum |
OMIM:610498 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... |
ORPHA:488627 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:169400 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure |
ORPHA:369929 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Status epilepticus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microcephaly, Epile... |
ORPHA:96147 |
1Q44 Microdeletion Syndrome |
|
Microcephaly, Bilateral tonic-clonic seizure, Agenesis of corpus callosum |
ORPHA:238769 |
Early Infantile Epileptic Encephalopathy |
|
Atonic seizure, Generalized tonic seizure, Pachygyria, Diffuse white matter abnormalities, Myoclo... |
ORPHA:1934 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation, Seizure |
ORPHA:459061 |
Pontocerebellar Hypoplasia, Type 2E |
|
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Tonic seizure, Myoclonus... |
OMIM:615851 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Cerebral cortical atrophy, Generalized myoclonic seizure, Microcephaly, Infantile spasms, Hypopla... |
ORPHA:457351 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, ... |
OMIM:253800 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Developmental And Epileptic Encephalopathy 95 |
|
Status epilepticus, Cerebellar vermis atrophy, Cerebral cortical atrophy, Cerebral atrophy, Micro... |
OMIM:618143 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria, Seizure |
ORPHA:220497 |
Holoprosencephaly 11 |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:614226 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:42 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure |
ORPHA:453510 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum, Infantile spasms, Focal impaired awareness seizure, Interhypothalami... |
OMIM:618929 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Generalized myoclonic seizure, Microcephaly, Abnormal cerebral white matter morphology, Bilateral... |
ORPHA:395 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Microcephaly, Hypoplasia of the corpus callosum, Generalized non-motor (ab... |
OMIM:617360 |
Arnold-Chiari Malformation Type Ii |
|
Cortical dysplasia, Abnormal medulla oblongata morphology, Polymicrogyria, Partial agenesis of th... |
ORPHA:1136 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized tonic seizure, Infan... |
ORPHA:480864 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Agenesis of corpus callosum |
OMIM:600638 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... |
OMIM:616900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, P... |
OMIM:236670 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebral hypoplasia, Cerebral atrophy, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, M... |
ORPHA:468631 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
OMIM:618872 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:222448 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Cerebellar vermis hypo... |
ORPHA:157 |
Acromelic Frontonasal Dysplasia |
|
Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Retrocerebellar cyst, Seizure |
ORPHA:1827 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum |
OMIM:607131 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum |
OMIM:615433 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria, Seizure |
ORPHA:220493 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:307000 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morph... |
ORPHA:163681 |
Developmental And Epileptic Encephalopathy 100 |
|
Typical absence seizure, Cerebral atrophy, Tonic seizure, Pachygyria, Myoclonus, Infantile spasms... |
OMIM:619777 |
Emanuel Syndrome |
|
Cerebral atrophy, Microcephaly, Abnormal cerebral white matter morphology, Chiari malformation, S... |
ORPHA:96170 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:610680 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral cortical atrophy, Generalized tonic seizure, Hypoplasia of the corpus callosum, Febrile ... |
ORPHA:496641 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Chiari type I malformation, Cerebral white matter hypoplasia, Abnormal hippocampus morphology, Fo... |
ORPHA:436003 |
Angelman Syndrome |
|
Status epilepticus, Atypical absence seizure, Cerebral dysmyelination, Atonic seizure, Cerebral c... |
ORPHA:72 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Frontonasal Dysplasia 1 |
|
Agenesis of corpus callosum, Pericallosal lipoma |
OMIM:136760 |
Meckel Syndrome 12 |
|
Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:616258 |
Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:249630 |
Desmosterolosis |
|
Status epilepticus, Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cortical gyra... |
ORPHA:35107 |
Curry-Jones Syndrome |
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Polymicrogyria, Megalencephaly, Chiari type I malformation, Hemimegalencephaly, Agenesis of corpu... |
OMIM:601707 |
Neuromuscular Oculoauditory Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Agenesis of corpus callosum |
OMIM:618733 |
Leigh Syndrome |
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Status epilepticus, Abnormal basal ganglia MRI signal intensity, Infantile spasms, Olivopontocere... |
ORPHA:506 |
Intellectual Disability-Strabismus Syndrome |
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Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure |
ORPHA:363528 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Agenesis of corpus callosum, Dandy-Walker malformation, Seizure |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Thick corpus callosum, Microcephaly, Febrile seizure (within the age range of 3 months to 6 years... |
OMIM:617798 |
Mucolipidosis Iv |
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Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum |
OMIM:252650 |
Radio-Tartaglia Syndrome |
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Microcephaly, Agenesis of corpus callosum, Seizure |
OMIM:619312 |
Fanconi Anemia, Complementation Group I |
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Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Chiari malformation, Colpoceph... |
OMIM:609053 |
3P25.3 Microdeletion Syndrome |
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Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
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Basal ganglia cysts, Agenesis of corpus callosum |
OMIM:613623 |
Chromosome Xp11.3 Deletion Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:300578 |
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 |
Hermansky-Pudlak Syndrome 10 |
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Microcephaly, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Cerebral atrophy |
OMIM:617050 |
Holoprosencephaly 14 |
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Microcephaly, Partial absence of cerebellar vermis, Partial agenesis of the corpus callosum, Bila... |
OMIM:619895 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Cerebral hypoplasia, Generalized myoclonic seizure, Microcephaly, Cerebellar hypoplasia, Bilatera... |
OMIM:257300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Cerebellar vermis hypo... |
ORPHA:228308 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, T... |
OMIM:616973 |
W Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:2804 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Cavum septum pellucidum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum |
OMIM:619074 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Bilateral tonic-clonic seizure |
OMIM:615474 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Bilateral tonic-clonic seizure |
OMIM:201475 |
Halperin-Birk Syndrome |
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Colpocephaly, Generalized-onset seizure, Agenesis of corpus callosum, Focal-onset seizure |
OMIM:618651 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:614924 |
Intellectual Developmental Disorder, X-Linked 98 |
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Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm... |
OMIM:300912 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
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Agenesis of corpus callosum |
ORPHA:521308 |
Japanese Encephalitis |
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Status epilepticus, Focal motor seizure, Abnormal pons morphology, Paucity of anterior horn motor... |
ORPHA:79139 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum |
ORPHA:423479 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Elongated superior cerebellar peduncle, Tonic seizure, Microcephaly, Hypoplasia of the pons, Myoc... |
OMIM:619512 |
D-Bifunctional Protein Deficiency |
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Cerebral hypoplasia, Cerebral dysmyelination, Cortical dysplasia, Corpus callosum atrophy, Polymi... |
OMIM:261515 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Convulsive status epilepticus, Seizure |
OMIM:616716 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Atonic seizure, Microcephaly, Bilateral tonic-clonic seizure, Generalized-onset seizure, Cerebell... |
OMIM:620066 |
Bohring-Opitz Syndrome |
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Microcephaly, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum, Dandy-Walk... |
OMIM:605039 |
Biotinidase Deficiency |
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Focal motor seizure, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seiz... |
ORPHA:79241 |
Pyruvate Carboxylase Deficiency |
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Cerebellar gliosis, Basal ganglia gliosis, Infantile spasms, Cerebral white matter atrophy, Periv... |
ORPHA:3008 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
Cono-Spondylar Dysplasia |
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Partial agenesis of the corpus callosum, Seizure |
ORPHA:420794 |
Vici Syndrome |
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Microcephaly, Schizencephaly, Cerebellar vermis hypoplasia, Seizure, Agenesis of corpus callosum |
OMIM:242840 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Periventricular nodular heterotopia, Secondary microcephaly, Dysplastic corpus callosum, Perivent... |
OMIM:619737 |
Xp21 Deletion Syndrome |
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Agenesis of corpus callosum, Seizure |
ORPHA:261476 |
Microform Holoprosencephaly |
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Microcephaly, Agenesis of corpus callosum, Seizure |
ORPHA:280200 |
8P Inverted Duplication/Deletion Syndrome |
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Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation, Seizure |
ORPHA:96092 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
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Agenesis of corpus callosum, Agenesis of cerebellar vermis |
ORPHA:228390 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Microcephaly, Anencephaly, Seizure, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Chiari Malformation Type Ii |
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Agenesis of corpus callosum, Chiari malformation |
OMIM:207950 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
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Thin corpu |