Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
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 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
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 |
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation |
|
Photosensitive tonic-clonic seizure |
OMIM:226800 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Generalized-onset seizure, Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Infantile spa... |
OMIM:610031 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
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, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Cerebellar hypoplas... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
OMIM:137580 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Thick cerebral cortex, Bilateral tonic-clonic seizure... |
ORPHA:65683 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Agyria, Microcephaly, Seizure, Hypo... |
OMIM:611603 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Lissencephaly 4 |
|
Simplified gyral pattern, Seizure, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary mi... |
OMIM:614019 |
Developmental And Epileptic Encephalopathy 60 |
|
Epileptic spasm, Tonic seizure, Myoclonic seizure, Seizure, Focal impaired awareness seizure, Hip... |
OMIM:617929 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
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 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Seizure, Small cerebral cortex, Cereb... |
OMIM:608716 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Seizure, Hypoplasia of the corpus callosum, Abnormal cerebral ... |
ORPHA:101029 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:616187 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo... |
ORPHA:101071 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Si... |
OMIM:619301 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... |
ORPHA:250972 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Simplified gyral pattern, Status epilepticus, Myoclonus, Generali... |
OMIM:616540 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Hypoplastic hippocampus, Multifocal seizures, Bilateral toni... |
OMIM:619606 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... |
OMIM:619302 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness se... |
OMIM:610003 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Cerebral... |
OMIM:618730 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Agen... |
ORPHA:85179 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... |
ORPHA:171680 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure |
OMIM:616409 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... |
OMIM:617113 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Microcephaly, Status epilepticus, Cerebral cortical atrophy, Agen... |
OMIM:620200 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... |
OMIM:620317 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Focal-onset seizure, Co... |
ORPHA:300573 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Generalized-onset seizure, Agenesis of corpus callosum |
ORPHA:459074 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Seizure, Inferior cerebellar ver... |
OMIM:618959 |
Lissencephaly, X-Linked, 1 |
|
Seizure, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Generalized myoclonic seizure, Agenesis of corpus callosum |
ORPHA:85334 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Seizure, Hypoplasia of the brainstem, Cerebellar hy... |
OMIM:617090 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Seizure, Hypo... |
OMIM:618492 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... |
OMIM:617904 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... |
ORPHA:255182 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Cerebral white matter atrophy, Bilateral tonic-clonic seizure with focal onset, ... |
ORPHA:599373 |
Microlissencephaly |
|
Cerebellar atrophy, Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset,... |
ORPHA:1083 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608636 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Seizure, Probst bundles, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:618286 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Aplasia/Hypop... |
ORPHA:263516 |
Band Heterotopia |
|
Hypoplastic hippocampus, Subcortical band heterotopia, Seizure, Lateral ventricle dilatation, Pol... |
OMIM:600348 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure... |
OMIM:615362 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Reduced amygdala volume, Hypoplastic hippocampus, Tonic seizure, Microcephaly, Focal-onset seizur... |
OMIM:619517 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Gaba-Transaminase Deficiency |
|
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum, Cerebral c... |
OMIM:617862 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619191 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... |
ORPHA:86909 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Seizure, Periventricular leukomalacia, Agenesis of corpus callosum |
OMIM:618324 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Generalized myoclonic-atonic seiz... |
OMIM:619701 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Infantile spa... |
ORPHA:208447 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Lissencephaly,... |
OMIM:617507 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly |
OMIM:614322 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... |
OMIM:618090 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly |
OMIM:619466 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure... |
ORPHA:330050 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Seizure, Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly |
OMIM:616681 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:618470 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... |
OMIM:615771 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Abnormal c... |
OMIM:614559 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Cerebral dys... |
ORPHA:101070 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Seizure, Cerebellar hypoplasia, Hypoplasia... |
OMIM:304100 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... |
OMIM:617106 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Seizure, Agenesis of corpus callosum |
OMIM:619548 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Cerebral atrophy, Myoclonic se... |
OMIM:226750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
ORPHA:140927 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum... |
OMIM:616171 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile spasms, Dysgenesis of the... |
OMIM:618325 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Hypoplastic hippocampus, Multifocal seizures, Abnormal cerebral white m... |
ORPHA:477774 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Microcephaly... |
OMIM:618012 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom... |
OMIM:615937 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset,... |
ORPHA:352582 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im... |
OMIM:615859 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Tonic seiz... |
OMIM:617711 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Glycine Encephalopathy 1 |
|
Seizure, Agenesis of corpus callosum, Myoclonus |
OMIM:605899 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Seizur... |
ORPHA:488635 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616230 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Absent hippocampal commissure, Se... |
OMIM:617542 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... |
OMIM:617976 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Hypoplasia of the ... |
OMIM:300423 |
Landau-Kleffner Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... |
ORPHA:98818 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... |
ORPHA:382 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Schizencephaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly, Simplifi... |
OMIM:604317 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... |
ORPHA:500166 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Focal-onset seizure, Generalized ... |
OMIM:619616 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset |
OMIM:618770 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Microcephaly, Seizure, Agenesis of corpus callosum, Frontal cortical atrophy, Parietal cortical a... |
OMIM:618766 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:609056 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:301020 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Tonic seizure, Focal he... |
OMIM:619317 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Microcephaly, Neuronal loss in the cerebral cortex, Myoclonic seizure, Seizur... |
ORPHA:168486 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... |
OMIM:618497 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Microcephaly, Focal clonic seizu... |
OMIM:620028 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cerebral cortical ... |
OMIM:609924 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, S... |
ORPHA:289266 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Brain Small Vessel Disease 2 |
|
Schizencephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Porencephalic cyst, Polymicr... |
OMIM:614483 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Abnormal cerebellum morphology, Cerebral atrophy, Seizure, Myoclonus |
OMIM:204200 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of... |
ORPHA:255138 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclo... |
ORPHA:561854 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Seizure, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:2508 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset se... |
OMIM:618917 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoc... |
OMIM:617810 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Seizure, Li... |
OMIM:614833 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Partial agenesis of the corpus ca... |
ORPHA:79243 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Cerebral atro... |
OMIM:617493 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617290 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Seizure, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria |
OMIM:616342 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus |
OMIM:613970 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:616570 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Seizure, S... |
OMIM:616281 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral patte... |
OMIM:616212 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Seizure, Polymicrogyria |
ORPHA:209370 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... |
OMIM:612736 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... |
OMIM:271980 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Optic nerve hypoplasia, Infantile spasms, Abnormal hippoc... |
ORPHA:572013 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Generalized non-motor (absence) s... |
ORPHA:485350 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum |
OMIM:166990 |
Dravet Syndrome |
|
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... |
ORPHA:33069 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Seizure, Primary microcephaly |
OMIM:618010 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Grubben-De Cock-Borghgraef Syndrome |
|
Seizure, Partial agenesis of the corpus callosum |
ORPHA:2101 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Focal tonic seizure, Cerebral atro... |
OMIM:617105 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Seizure, Caudate atrophy, Agenesis of corpus callosum |
OMIM:618238 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:615031 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Microcephaly, Generalize... |
OMIM:618170 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Seizure,... |
ORPHA:89844 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa... |
OMIM:613153 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Epileptic spasm, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Seizure, Cerebel... |
OMIM:617669 |
Hemimegalencephaly |
|
Focal cortical dysplasia, Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemimegalenc... |
ORPHA:99802 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Convulsive status epilepticus |
OMIM:618760 |
Oculocerebrocutaneous Syndrome |
|
Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Walker malformation |
OMIM:164180 |
Severe Canavan Disease |
|
Seizure, Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Megalencephaly |
ORPHA:314911 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Myo... |
OMIM:607196 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of t... |
ORPHA:500144 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Dysgenesis of the basal ganglia, Seizure, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agene... |
OMIM:620316 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... |
OMIM:619913 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Unilateral Focal Polymicrogyria |
|
Intracerebral periventricular calcifications, Bilateral tonic-clonic seizure with focal onset, Si... |
ORPHA:268947 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Microcephaly, Focal motor s... |
OMIM:618235 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Pontocerebellar Hypoplasia, Type 11 |
|
Microcephaly, Hypoplasia of the pons, Seizure, Cerebellar hypoplasia, Hypoplasia of the corpus ca... |
OMIM:617695 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Seizure, Hypoplasia of the corpus callosum, Ag... |
OMIM:618603 |
Developmental And Epileptic Encephalopathy 90 |
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Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:301058 |
Developmental And Epileptic Encephalopathy 47 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Status ep... |
OMIM:617166 |
3-Methylglutaconic Aciduria, Type Viia |
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Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... |
OMIM:619835 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Bilateral tonic-clonic seizure, Microcephaly, Myoclonic seizure, Seizure, Lateral ventricle dilat... |
OMIM:615716 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Seizure, Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
Subependymal Nodular Heterotopia |
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Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Focal aware seizure, Limb ... |
ORPHA:101030 |
Developmental And Epileptic Encephalopathy 4 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Cerebral atrophy, Status epilepticus, Hypoplasia... |
OMIM:612164 |
Fetal Akinesia Syndrome, X-Linked |
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Agenesis of corpus callosum |
OMIM:300073 |
Developmental And Epileptic Encephalopathy 8 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
Microhydranencephaly |
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Hydranencephaly, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Generalized my... |
OMIM:605013 |
Oxoglutarate Dehydrogenase Deficiency |
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Bilateral tonic-clonic seizure |
OMIM:203740 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Thin corpus c... |
OMIM:616672 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure |
OMIM:618237 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Microcephaly 10, Primary, Autosomal Recessive |
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Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... |
OMIM:615095 |
Coenzyme Q10 Deficiency, Primary, 3 |
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Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... |
OMIM:620292 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Tonic seizure, Microcephaly, Seizure, Hypoplasia of the brainstem, Progressive microcephaly, Liss... |
OMIM:615249 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Combined Oxidative Phosphorylation Deficiency 50 |
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Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... |
ORPHA:370959 |
D-2-Hydroxyglutaric Aciduria 1 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Multifocal ce... |
OMIM:600721 |
Sarcosinemia |
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Bilateral tonic-clonic seizure |
ORPHA:3129 |
Craniotelencephalic Dysplasia |
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Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ... |
OMIM:218670 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Microcephaly, Cerebral atrophy, Basal ganglia cysts, Seizure, Myoclonus, Agenesis of corpus callosum |
OMIM:312170 |
Familial Congenital Mirror Movements |
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Agenesis of corpus callosum, Abnormal corticospinal tract morphology, Dysgenesis of the hippocampus |
ORPHA:238722 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
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Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly |
OMIM:619278 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
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Seizure, Partial agenesis of the corpus callosum, Status epilepticus, Microcephaly |
OMIM:618346 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Agenesis of corpus callosum |
OMIM:610245 |
Developmental And Epileptic Encephalopathy 18 |
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Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal... |
ORPHA:1528 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Seizure, Partial agenesis of the corpus callosum, Microcephaly |
OMIM:245349 |
Pontocerebellar Hypoplasia Type 2 |
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Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Abnormal cor... |
ORPHA:2524 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Se... |
ORPHA:464282 |
Greig Cephalopolysyndactyly Syndrome |
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Seizure, Agenesis of corpus callosum |
ORPHA:380 |
Developmental And Epileptic Encephalopathy 31B |
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Multifocal seizures, Infantile spasms, Reduced cerebral white matter volume, Clonic seizure, Myoc... |
OMIM:620352 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
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Febrile seizure (within the age range of 3 months to 6 years), Agenesis of corpus callosum, Micro... |
OMIM:619989 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Focal-onset seizure,... |
ORPHA:168491 |
Baraitser-Winter Syndrome 2 |
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Seizure, Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
Dentici-Novelli Neurodevelopmental Syndrome |
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Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Simplified gyral pattern, Myocloni... |
OMIM:619877 |
3Q13 Microdeletion Syndrome |
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Agenesis of corpus callosum |
ORPHA:1621 |
New-Onset Refractory Status Epilepticus |
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Abnormal basal ganglia MRI signal intensity, Cerebellar edema, Seizure precipitated by febrile in... |
ORPHA:363558 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Microcephaly, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Polym... |
OMIM:225790 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
Sulfite Oxidase Deficiency, Isolated |
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Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Cerebellar hypoplasia, Hyperinten... |
OMIM:272300 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Cerebellar hypop... |
ORPHA:529665 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Seizure, Agenesis of corpus callosum, Myoclonus |
OMIM:250620 |
Warburg Micro Syndrome 1 |
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Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel... |
OMIM:600118 |
Maternal Uniparental Disomy Of Chromosome X |
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Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Seizure, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:619911 |
X-Linked Intellectual Disability, Hedera Type |
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Cerebellar atrophy, Atonic seizure, Hypoplasia of the corpus callosum, Bilateral tonic-clonic sei... |
ORPHA:93952 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly, Seizure, Lissencephaly, ... |
OMIM:619827 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebellar hypoplasia, Myoclonus, Generalized... |
ORPHA:313772 |
Craniofacial Dyssynostosis With Short Stature |
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Chiari type I malformation, Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:218350 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Seizure, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2182 |
Spinocerebellar Ataxia 48 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure |
OMIM:618093 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
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Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
6Q25 Microdeletion Syndrome |
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Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:251056 |
Masa Syndrome |
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Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Myoclonic Epilepsy Of Lafora |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Intellectual Developmental Disorder, X-Linked 30 |
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Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Spastic Ataxia 5, Autosomal Recessive |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure |
OMIM:614487 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Cerebellar atrophy, Microcephaly, Seizure, Status epilepticus, Hypoplasia of the corpus callosum,... |
OMIM:616239 |
Lissencephaly, X-Linked, 2 |
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Seizure, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Abnormal cerebral ... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Pontocerebellar Hypoplasia, Type 13 |
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Cerebellar vermis hypoplasia, Hypoplastic hippocampus, Microcephaly, Hypoplasia of the pons, Late... |
OMIM:618606 |
Chromosome 3Q13.31 Deletion Syndrome |
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Seizure, Agenesis of corpus callosum |
OMIM:615433 |
Dk1-Cdg |
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Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:91131 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Seizure, Colpocephaly, Hy... |
OMIM:620156 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Cerebral calcification, Tonic seizu... |
OMIM:617281 |
Cln3 Disease |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizu... |
ORPHA:228346 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Seizure,... |
OMIM:214150 |
Epilepsy, Familial Adult Myoclonic, 2 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:607876 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Microcephaly, Seizure, Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:618142 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Hippocampal malrotation |
OMIM:614402 |
Hyperekplexia 3 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:457205 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Lissencephaly, Agenes... |
ORPHA:99742 |
Posttransplant Acute Limbic Encephalitis |
|
Seizure, Abnormal hippocampus morphology, Myoclonus |
ORPHA:163921 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... |
ORPHA:300570 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Microcephaly, Fo... |
OMIM:618354 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Seizure, Agenesis of corpus callosum, Infantile spasms, Dysgenesis of the hippocampus |
OMIM:619320 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
4Q21 Microdeletion Syndrome |
|
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Tonic seizure, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, C... |
OMIM:616051 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Cerebellar hyp... |
OMIM:615501 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
Sandhoff Disease, Infantile Form |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
ORPHA:309155 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene... |
OMIM:618736 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Chiari type I malformation, Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613735 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Microcephaly, Bilateral tonic-clonic seizure, Cerebellar dysplasia |
ORPHA:457240 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Seizure, Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:452 |
Hogue-Janssen Syndrome 2 |
|
Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616362 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Dysgenesis of the hippocampus, Focal-onset seizure, Cerebellar hy... |
OMIM:619435 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Microcephaly, Myoclonus, Abnormal periventricular white matter mo... |
OMIM:619725 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Hyperintensity of cerebral white matter on MRI, Seizure, Hypoplas... |
ORPHA:481152 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... |
ORPHA:98795 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per... |
OMIM:604360 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618120 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Seizure, Hypo... |
ORPHA:544503 |
Microphthalmia With Brain And Digit Anomalies |
|
Seizure, Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
ORPHA:139471 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Abnormal cerebral white matter morphology, Bilateral tonic-cloni... |
ORPHA:275864 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619983 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Greig Cephalopolysyndactyly Syndrome |
|
Seizure, Agenesis of corpus callosum |
OMIM:175700 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Vici Syndrome |
|
Hypoplasia of the pons, Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cor... |
ORPHA:1493 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplastic hippocampus, Infantile spasms, Simplified gyral pattern, Cerebral atrophy, Seizure, M... |
OMIM:614261 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissence... |
ORPHA:268940 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor... |
OMIM:615802 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure |
ORPHA:98784 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Microcephaly, Partial absence of cerebellar vermis, Seizure, Hypoplasia of ... |
OMIM:613150 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Seizure, Diffuse white matter abnormalities, Agenesis of corpus callosum |
OMIM:218000 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Hypoplastic hippocampus, Infantile spasms, Mic... |
ORPHA:356961 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... |
OMIM:616819 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure |
OMIM:271900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Seizure, Secondary microcephaly, Hypoplasia of the corpus callosum,... |
OMIM:620073 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogyria, Macrogyria, S... |
ORPHA:899 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Dand... |
OMIM:616602 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Focal-onset seizure, Chiari type I malformation, Seizure, Cerebellar hypo... |
OMIM:618476 |
Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Seizure, Cerebellar hypoplasia, Hypoplasia of the corpus ... |
OMIM:613001 |
Temtamy Syndrome |
|
Seizure, Agenesis of corpus callosum, Thick corpus callosum |
OMIM:218340 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Retrocerebellar cyst, Seizure, Stat... |
ORPHA:364028 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Nivelon-Nivelon-Mabille Syndrome |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, ... |
OMIM:600092 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Bilateral tonic-... |
OMIM:618381 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Deep cerebral white matter hyperintensities, Diffuse cerebral atrophy, Bilateral tonic-clonic sei... |
ORPHA:199354 |
Ring Chromosome 22 Syndrome |
|
Seizure, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
ORPHA:1446 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Seizure, Aplasia/Hypopla... |
ORPHA:3157 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral edema |
OMIM:602481 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Cerebellar vermis hypoplasia,... |
OMIM:620024 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Microcephaly, Seizure, Status epilepticus... |
OMIM:220120 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly,... |
OMIM:619580 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
OMIM:300004 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Chiari type I malformation, Seizure, Thin corpus call... |
OMIM:619720 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Myoclonic ... |
OMIM:614207 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300887 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypoplasia of the corpus... |
ORPHA:329308 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... |
ORPHA:86822 |
Optic Atrophy-Intellectual Disability Syndrome |
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Seizure, Abnormal hippocampus morphology, Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:401777 |
Microcephaly 20, Primary, Autosomal Recessive |
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Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Glutathionuria |
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Agenesis of corpus callosum |
OMIM:231950 |
Pitt-Hopkins-Like Syndrome 1 |
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Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... |
OMIM:610042 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Epileptic spasm, Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Abnormal cortical... |
ORPHA:79351 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Agyria, Hypoplasia of the pyramidal tract, Seizure, Hypoplasia of the brainstem, Lissencephaly, C... |
OMIM:253800 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Agenesis of corpus callosum |
OMIM:610498 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:488613 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
Baraitser-Winter Syndrome 1 |
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Microcephaly, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:243310 |
Marden-Walker Syndrome |
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Microcephaly, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar ve... |
OMIM:248700 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Epileptic spasm, Absent septum pellucidum, Microcephaly, Generalized non-motor (absence) seizure,... |
ORPHA:96147 |
Microcephaly 3, Primary, Autosomal Recessive |
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Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Bilateral tonic-clonic seizure, Myoclonic spasms, Primary microcephaly, Diffuse cerebellar atroph... |
ORPHA:478029 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
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Seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Microcephaly |
OMIM:612337 |
Jaberi-Elahi Syndrome |
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Bilateral tonic-clonic seizure, Microcephaly, Globus pallidus hypointensity on susceptibility-wei... |
OMIM:617988 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Seizure, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Coach Syndrome 2 |
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Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
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Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:466688 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
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Bilateral tonic-clonic seizure |
ORPHA:79350 |
Spinocerebellar Ataxia With Epilepsy |
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Bilateral tonic-clonic seizure with focal onset, Myoclonus |
ORPHA:254881 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... |
ORPHA:488627 |
1Q44 Microdeletion Syndrome |
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Microcephaly, Agenesis of corpus callosum, Bilateral tonic-clonic seizure |
ORPHA:238769 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Generalized non-motor (absence) s... |
ORPHA:457351 |
Fg Syndrome 3 |
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Chiari type I malformation, Agenesis of corpus callosum |
OMIM:300406 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Seizure, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620250 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
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Cerebellar atrophy, Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Mi... |
OMIM:617193 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Partial agenesis of the corpus callosum, Seizure, Colpocephaly, Secondary microcephaly, Hypoplasi... |
OMIM:620113 |
Delpire-Mcneill Syndrome |
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Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen... |
OMIM:614924 |
Early Infantile Epileptic Encephalopathy |
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Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... |
ORPHA:1934 |
Holoprosencephaly 11 |
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Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Pelger-Huet Anomaly |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Joubert Syndrome With Renal Defect |
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Seizure, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:220497 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Immunodeficiency 49 |
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Seizure, Agenesis of corpus callosum, Reduced cerebral white matter volume |
OMIM:617237 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Interhypothalamic adhesion, Agenesis of corpus callosum, Infantile spasms, Focal impaired awarene... |
OMIM:618929 |
Chromosome 5P13 Duplication Syndrome |
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Seizure, Agenesis of corpus callosum |
OMIM:613174 |
Joubert Syndrome 18 |
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Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Microcephaly, Simplified gyral pattern, Seizure, Colpocephaly, Lissencephaly, Agenesis of corpus ... |
OMIM:615219 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Optic nerve hypoplasia, Microcephaly, Seizure, Cerebellar hypoplasia, Hypoplasia of the corpus ca... |
OMIM:301056 |
Warburg Micro Syndrome 3 |
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Bilateral tonic-clonic seizure, Microcephaly, Myoclonic seizure, Secondary microcephaly, Hypoplas... |
OMIM:614222 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Microcephaly, Generalized non-motor (absence) seizure, Seizure, Small cerebral cortex, Hypoplasia... |
OMIM:617360 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Cere... |
OMIM:615398 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:42 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Bilateral tonic-clonic seizure |
OMIM:616351 |
Nizon-Isidor Syndrome |
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Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618872 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Developmental And Epileptic Encephalopathy 95 |
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Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Microcephaly, Hypoplasia... |
OMIM:618143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Seizure, Hypoplasia of the b... |
OMIM:236670 |
Acromelic Frontonasal Dysplasia |
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Retrocerebellar cyst, Seizure, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb |
ORPHA:1827 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Bilateral tonic-clonic seizure, Hypodysplasia of the corpus callosum, Microcephaly, Seizure, Cere... |
OMIM:257300 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Microcephaly |
ORPHA:369840 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure |
ORPHA:369929 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... |
ORPHA:480864 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microcephaly, Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum, Cavum septum pellucid... |
OMIM:616449 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
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Bilateral tonic-clonic seizure |
ORPHA:453510 |
Hydrocephalus, Congenital, X-Linked |
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Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:307000 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Seizure, Hypoplastic hippocampus |
OMIM:617780 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Seizure,... |
ORPHA:157 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Cerebellar atrophy, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the po... |
ORPHA:468631 |
Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure |
OMIM:618165 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
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Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:620070 |
Donnai-Barrow Syndrome |
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Seizure, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia... |
OMIM:222448 |
Septooptic Dysplasia |
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Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Hydrolethalus Syndrome 2 |
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Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Agenesis of corpus callosum |
ORPHA:93267 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Generalized non-motor (absence... |
ORPHA:395 |
Joubert Syndrome With Ocular Defect |
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Seizure, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:220493 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Emanuel Syndrome |
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Microcephaly, Cerebral atrophy, Seizure, Abnormal cerebral white matter morphology, Chiari malfor... |
ORPHA:96170 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morphology, Focal-onset seizure,... |
ORPHA:163681 |
Meckel Syndrome 12 |
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Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... |
OMIM:615287 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Chiari type I malformation, Focal-onset seizure, Abnormal hippocampus morphology, Cerebral white ... |
ORPHA:436003 |
Desmosterolosis |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Seizure, Status e... |
ORPHA:35107 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Seizure, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Infantile spasms, Bilateral tonic-clonic seizure |
OMIM:618733 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Agenesis of corpus callosum |
OMIM:136760 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Chiari type I malformation, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ... |
ORPHA:506 |
Intellectual Disability-Strabismus Syndrome |
|
Seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:363528 |
Toriello-Carey Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Hypoplasia of t... |
ORPHA:3338 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Secondary microcephaly, Hypoplasia of the cor... |
ORPHA:496641 |
Radio-Tartaglia Syndrome |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
OMIM:619312 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Seizure... |
OMIM:252160 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation... |
OMIM:609053 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... |
ORPHA:228308 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Halperin-Birk Syndrome |
|
Focal-onset seizure, Colpocephaly, Generalized-onset seizure, Agenesis of corpus callosum |
OMIM:618651 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619074 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Microcephaly, Partial agen... |
OMIM:619512 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Retrocerebellar cyst, Seizure, Calcifi... |
OMIM:603671 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... |
OMIM:616973 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Periventricular nodular heterotopia, Secondary microcephaly, Perivent... |
OMIM:619737 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Microcephaly, Thick corpus callosum, Generalized non-motor (absen... |
OMIM:617798 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:521308 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Absent septum pellucidum, Microcephaly, Parti... |
OMIM:619895 |
Bohring-Opitz Syndrome |
|
Microcephaly, Seizure, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis o... |
OMIM:605039 |
Xp21 Deletion Syndrome |
|
Seizure, Agenesis of corpus callosum |
ORPHA:261476 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Infantile spasms, Generalized clonic seizure, Cerebellar gliosis, ... |
ORPHA:3008 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum |
ORPHA:423479 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Chiari... |
OMIM:620224 |
Cono-Spondylar Dysplasia |
|
Seizure, Partial agenesis of the corpus callosum |
ORPHA:420794 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Gen... |
ORPHA:435638 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... |
OMIM:300912 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure |
OMIM:201475 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Generalized-onset seizure, Microcephaly, Seizure, Hypoplasia of the corpus callosum, Pachygyria, ... |
OMIM:613457 |
Fumarase Deficiency |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Status epilepticus, P... |
OMIM:606812 |
Chiari Malformation Type Ii |
|
Chiari malformation, Agenesis of corpus callosum |
OMIM:207950 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Bilateral tonic-clonic seizure, Paucity of anterior horn mo... |
ORPHA:79139 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral dysmyelination, Corpus callosum atro... |
OMIM:261515 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly, Aton... |
OMIM:620066 |
Microform Holoprosencephaly |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:280200 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
8P Inverted Duplication/Deletion Syndrome |
|
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:96092 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618619 |
Hermansky-Pudlak Syndrome 10 |
|
Cerebral atrophy, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Microcephaly |
OMIM:617050 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microcephaly, Anencephaly, Seizure, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Melas |
|
Bilateral tonic-clonic seizure, Aplasia/Hypoplasia of the cerebral white matter, Focal-onset seiz... |
ORPHA:550 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Seizure, Myoc... |
OMIM:618426 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... |
ORPHA:79241 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Seizure, Agenesis of corpus callosum |
OMIM:309520 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Seizure, Polymic... |
OMIM:608836 |
Genitopatellar Syndrome |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:85201 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus c... |
ORPHA:464738 |
Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619980 |
16P13.11 Microdeletion Syndrome |
|
Generalized-onset seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:261236 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Generalized-onset seizure, Macrogyria, Seizure, Colpocephaly, Cerebellar hypo... |
OMIM:614866 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the corpus callosum, H... |
OMIM:614643 |
Webb-Dattani Syndrome |
|
Secondary microcephaly, Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum |
OMIM:615926 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Po... |
OMIM:619775 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha... |
ORPHA:357058 |
Aicardi Syndrome |
|
Epileptic spasm, Cerebellar vermis hypoplasia, Infantile spasms, Microcephaly, Partial agenesis o... |
OMIM:304050 |
Sandhoff Disease |
|
Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Seizure, Hypoplasia of the corpus callos... |
ORPHA:457284 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:990 |
De Sanctis-Cacchione Syndrome |
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Bilateral tonic-clonic seizure, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Oliv... |
OMIM:278800 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Absent septum pellucidum, Microcephaly, Seizure, Focal impaired awareness seizure, Hypoplasia of ... |
OMIM:618500 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Agenesis of corpus callosum |
OMIM:109120 |
Fryns Syndrome |
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Seizure, Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation |
ORPHA:2059 |
Desmosterolosis |
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Seizure, Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the corpus ... |
OMIM:602398 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:261323 |
Hydrolethalus |
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Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Weaver Syndrome |
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Bilateral tonic-clonic seizure, Absent septum pellucidum, Generalized non-motor (absence) seizure... |
OMIM:277590 |
Kleefstra Syndrome |
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Seizure, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:261494 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:247262 |
Glass Syndrome |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
OMIM:612313 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Agenesis of corpus callosum |
OMIM:147950 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Seizure, Focal impaired awarene... |
OMIM:617799 |
Sotos Syndrome |
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Seizure, Partial agenesis of the corpus callosum, Cavum septum pellucidum |
OMIM:117550 |
Cerebrofacioarticular Syndrome |
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Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... |
ORPHA:314679 |
Trisomy 1Q |
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Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Encephalocraniocutaneous Lipomatosis |
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Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Seizure, Subcortical cerebral... |
ORPHA:2396 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Bilateral tonic-clonic seizure |
ORPHA:436159 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Secondary microcephaly, Hypoplasia of the corpu... |
ORPHA:447997 |
1Q21.1 Microdeletion Syndrome |
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Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:250989 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Seizure, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:847 |
15Q Overgrowth Syndrome |
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Seizure, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
Birk-Landau-Perez Syndrome |
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Pachygyria, Agenesis of corpus callosum, Microcephaly |
OMIM:617595 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Seizure, Hypothal... |
OMIM:311200 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Absent septum pellucidum, Microcephaly, Seizure, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Phace Syndrome |
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Optic nerve hypoplasia, Microcephaly, Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum... |
ORPHA:42775 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Seizure, Colpocephaly, Agenesis of c... |
OMIM:301043 |
Agnathia-Otocephaly Complex |
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Agenesis of corpus callosum |
OMIM:202650 |
Cutis Laxa, Autosomal Recessive, Type Iib |
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Agenesis of corpus callosum, Microcephaly |
OMIM:612940 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
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Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618109 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:612863 |
Pitt-Hopkins Syndrome |
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Hypoplastic hippocampus, Microcephaly, Seizure, Secondary microcephaly, Hypoplasia of the corpus ... |
OMIM:610954 |
Alexander Disease |
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Seizure, Cerebral calcification, Agenesis of corpus callosum, Megalencephaly |
ORPHA:58 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Brain-Lung-Thyroid Syndrome |
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Cavum septum pellucidum, Agenesis of corpus callosum, Myoclonus, Microcephaly |
ORPHA:209905 |
Coffin-Siris Syndrome 11 |
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Agenesis of corpus callosum |
OMIM:618779 |
Mosaic Trisomy 1 |
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Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Trichothiodystrophy |
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Generalized-onset seizure, Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus ... |
ORPHA:33364 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:217980 |
Hydranencephaly |
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Hypoplastic hippocampus, Optic nerve hypoplasia, Seizure, Primary microcephaly, Cerebral cortical... |
ORPHA:2177 |
X Small Rings |
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Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
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Cerebral atrophy, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:617296 |
Kinsship Syndrome |
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Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Generalized non-motor (absence... |
OMIM:619297 |
Curry-Jones Syndrome |
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Agenesis of corpus callosum |
ORPHA:1553 |
Vici Syndrome |
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Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Seizure, Agenesis of corpus callosum |
OMIM:242840 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:1812 |
Oliver Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:2920 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gene... |
ORPHA:369837 |
Curry-Jones Syndrome |
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Megalencephaly, Hemimegalencephaly, Chiari type I malformation, Polymicrogyria, Agenesis of corpu... |
OMIM:601707 |
Bohring-Opitz Syndrome |
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Microcephaly, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walk... |
ORPHA:97297 |
Trichothiodystrophy 4, Nonphotosensitive |
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Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Coffin-Siris Syndrome 4 |
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Seizure, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:614609 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Generalized-onset seizure, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microc... |
OMIM:619418 |
Stromme Syndrome |
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Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenes... |
OMIM:243605 |
Holoprosencephaly 1 |
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Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:236100 |
Pseudotrisomy 13 Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:264480 |
Aicardi Syndrome |
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Infantile spasms, Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of th... |
ORPHA:50 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Seizure, Bilateral tonic-clonic seizure, Cerebral atrophy, Microcephaly |
OMIM:301040 |
Hartsfield Syndrome |
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Microcephaly, Agenesis of corpus callosum, Bilateral tonic-clonic seizure |
OMIM:615465 |
Histiocytoid Cardiomyopathy |
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Cerebellar malformation, Seizure, Agenesis of corpus callosum |
ORPHA:137675 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Cerebellar atrophy, Bilateral tonic-clonic seizure, Microcephaly, Focal T2 hypointense basal gang... |
OMIM:252010 |
Apert Syndrome |
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Abnormal morphology of the limbic system, Absent septum pellucidum, Megalencephaly, Chiari type I... |
OMIM:101200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... |
OMIM:210710 |
Alternating Hemiplegia Of Childhood |
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Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus |
ORPHA:2131 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Seizure, Agenesis of corpus callosum |
OMIM:618748 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
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Agenesis of corpus callosum |
ORPHA:52055 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:617260 |
Duplication Of The Pituitary Gland |
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Abnormal hypothalamus morphology, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Mic... |
ORPHA:314621 |
Apert Syndrome |
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Chiari malformation, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:87 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Bilateral tonic-clonic seizure |
ORPHA:79124 |
Coffin-Siris Syndrome |
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Microcephaly, Simplified gyral pattern, Seizure, Agenesis of corpus callosum, Dandy-Walker malfor... |
ORPHA:1465 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:255210 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Seizure, C... |
ORPHA:513456 |
Orofaciodigital Syndrome Vi |
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Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Polymicrogyria, Agenesi... |
OMIM:277170 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:466943 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Agenesis of corpus callosum |
ORPHA:77298 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Bilateral tonic-clonic seizure, Megalencephaly, Diffuse white matter abnormalities, Thick corpus ... |
ORPHA:457359 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Seizure, Bilateral tonic-clonic seizure |
OMIM:610505 |
Opitz Gbbb Syndrome |
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Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:300000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Lujo Hemorrhagic Fever |
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Seizure, Bilateral tonic-clonic seizure |
ORPHA:319213 |
Tetraamelia-Multiple Malformations Syndrome |
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Septo-optic dysplasia, Agenesis of corpus callosum |
ORPHA:3301 |
Monosomy 13Q34 |
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Agenesis of corpus callosum, Microcephaly |
ORPHA:96168 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Endocrine-Cerebroosteodysplasia |
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Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca... |
OMIM:612651 |
Trisomy 8P |
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Seizure, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
ORPHA:264450 |
Cocaine Intoxication |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... |
ORPHA:90068 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Optic nerve hypoplasia, Microcephaly, Typical absence seizure, Seizure, Hypoplasia of the corpus ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Optic nerve hypoplasia, Microcephaly, Typical absence seizure, Seizure, Hypoplasia of the corpus ... |
ORPHA:352665 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus, Ventriculomegaly |
ORPHA:363444 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Generalized-onset seizure, Microcephaly, Focal hemiclonic seizure, Focal-onset seizure, Chiari ty... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Generalized-onset seizure, Microcephaly, Focal hemiclonic seizure, Focal-onset seizure, Chiari ty... |
ORPHA:363958 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Agenesis of corpus callosum |
OMIM:300472 |
Opitz-Kaveggia Syndrome |
|
Seizure, Partial agenesis of the corpus callosum |
OMIM:305450 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Holoprosencephaly 7 |
|
Microcephaly, Partial agenesis of the corpus callosum, Seizure, Hypoplasia of the brainstem, Agen... |
OMIM:610828 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Chiari malformation, Agenesis of corpus callosum |
OMIM:123790 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Hypoplastic hippocampus, Abnormal cortical gyration, Cerebellar hypoplasia, Cerebral cortical atr... |
ORPHA:314647 |
Orofaciodigital Syndrome Type 5 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:2919 |
Opitz Gbbb Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age... |
ORPHA:2745 |
Marshall-Smith Syndrome |
|
Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypopl... |
OMIM:602535 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:563612 |
Monosomy 9P |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Fryns Syndrome |
|
Hypoplasia of the optic tract, Seizure, Hypoplasia of olfactory tract, Agenesis of corpus callosu... |
OMIM:229850 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Focal-onset ... |
OMIM:301044 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Po... |
OMIM:620305 |
Acrocallosal Syndrome |
|
Seizure, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Monosomy 22Q13.3 |
|
Seizure, Agenesis of corpus callosum, Cerebellar cortical atrophy |
ORPHA:48652 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Bilateral tonic-clonic seizure, Microcephaly, Typical absence seizure, Seizure, Hypoplasia of the... |
ORPHA:268261 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:280 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... |
OMIM:618820 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Thin corpus callosum, Partial agenesis of the corpus callosum, Focal impaired awareness seizure, ... |
OMIM:619480 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Seizure, Microcephaly, Bilateral tonic-clonic seizure with focal onset, Abnormal cerebral white m... |
OMIM:614947 |
Orofaciodigital Syndrome Type 1 |
|
Seizure, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Jacobsen Syndrome |
|
Seizure, Pachygyria, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:2308 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:99885 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Cerebral atrophy, Myoclonic... |
OMIM:280000 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Seizure, Cerebellar hypoplasia... |
ORPHA:459070 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis of the corpus ... |
OMIM:610829 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum, Cerebellar cyst |
OMIM:613091 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:174300 |
Choreoacanthocytosis |
|
Caudate atrophy, Hypoplastic hippocampus, Bilateral tonic-clonic seizure, Abnormal putamen morpho... |
ORPHA:2388 |
Hallermann-Streiff Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly |
OMIM:234100 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized myoclonic-atonic seizure, Seizure, Hippocampal atroph... |
OMIM:614756 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Hypothalamic hamartoma, ... |
OMIM:206900 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callos... |
OMIM:270400 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Osteopathia Striata With Cranial Sclerosis |
|
Seizure, Partial agenesis of the corpus callosum |
OMIM:300373 |
Marden-Walker Syndrome |
|
Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Abnor... |
ORPHA:2461 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Thakker-Donnai Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1780 |
Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Abnormal hippocampus morphology, L... |
OMIM:235730 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent septum pellucidum, Microcephaly, Seizure, Subcortical cerebral atrophy, Cerebellar hypopla... |
ORPHA:2273 |
Toriello-Lacassie-Droste Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Absent septum pellucidum, Microcephaly, Seizure, Status epilepticus, Agenesis of corpus callosum |
ORPHA:2556 |
Simpson-Golabi-Behmel Syndrome |
|
Seizure, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:605376 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular leukomal... |
ORPHA:508498 |
Holoprosencephaly 2 |
|
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:157170 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Microcephaly, Anencephaly, Cerebral hypoplasia, Chiari malformation, Ce... |
OMIM:249000 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Epileptic spasm, Infantile spasms, Microcephaly, Polymicrogyria, Leukoencephalopathy, Seizure, La... |
OMIM:607872 |
Fanconi Anemia, Complementation Group D2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:227646 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261537 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Seizure, Agenesis of cor... |
ORPHA:95494 |
Alobar Holoprosencephaly |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:220386 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Generalized-onset seizure, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the co... |
OMIM:220111 |
Mycophenolate Mofetil Embryopathy |
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Agenesis of corpus callosum |
ORPHA:268249 |
Wolf-Hirschhorn Syndrome |
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Absent septum pellucidum, Microcephaly, Periventricular cysts, Seizure, Cavum septum pellucidum, ... |
OMIM:194190 |
Baller-Gerold Syndrome |
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Optic nerve hypoplasia, Seizure, Chiari malformation, Polymicrogyria, Agenesis of corpus callosum |
OMIM:218600 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Microcephal... |
OMIM:620330 |
Rubinstein-Taybi Syndrome 1 |
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Hyperintensity of cerebral white matter on MRI, Seizure, Agenesis of corpus callosum, Microcephaly |
OMIM:180849 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261552 |
Mismatch Repair Cancer Syndrome 1 |
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Agenesis of corpus callosum |
OMIM:276300 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Agenesis of corpus callosum |
OMIM:618419 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Abnormal cerebellum morphology, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
1P36 Deletion Syndrome |
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Seizure, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:1606 |
Ogden Syndrome |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral atrophy, Microcephaly |
OMIM:300855 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Agenesis of corpus callosum |
ORPHA:556955 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
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Seizure |
ORPHA:83473 |
Mowat-Wilson Syndrome |
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Focal cortical dysplasia, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Microcepha... |
ORPHA:2152 |
Microgastria-Limb Reduction Defect Syndrome |
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Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Doors Syndrome |
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Small cerebellar cortex, Bilateral tonic-clonic seizure, Microcephaly, Focal impaired awareness s... |
ORPHA:79500 |
Orofaciodigital Syndrome Xiv |
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Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... |
ORPHA:434179 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Agenesis of corpus callosum |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Agenesis of corpus callosum |
ORPHA:289548 |
Gaucher Disease |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
ORPHA:355 |
Perlman Syndrome |
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Agenesis of corpus callosum |
OMIM:267000 |
14Q22Q23 Microdeletion Syndrome |
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Agenesis of corpus callosum |
ORPHA:264200 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Septo-optic dysplasia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:619841 |
Chromosome 13Q14 Deletion Syndrome |
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Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum |
OMIM:613884 |
Lenz-Majewski Hyperostotic Dwarfism |
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Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2658 |
Orofaciodigital Syndrome Type 2 |
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Bilateral tonic-clonic seizure |
ORPHA:2751 |
Coffin-Siris Syndrome 1 |
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Microcephaly, Partial agenesis of the corpus callosum, Seizure, Hypoplasia of the corpus callosum... |
OMIM:135900 |
Neu-Laxova Syndrome 1 |
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Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenesis of corpus c... |
OMIM:256520 |
Wiedemann-Rautenstrauch Syndrome |
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Chiari type I malformation, Seizure, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus ca... |
ORPHA:3455 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:612474 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Epileptic spasm, Absent septum pellucidum, Seizure, Myoclonus, Hypoplasia of the corpus callosum,... |
ORPHA:438213 |
Yunis-Varon Syndrome |
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Pachygyria, Cerebellar hypoplasia, Primary microcephaly, Hypoplasia of the frontal lobes, Agenesi... |
ORPHA:3472 |
Gabriele-De Vries Syndrome |
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Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
ORPHA:506358 |
Zttk Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus, Abnormal cerebral white matter morphology, ... |
OMIM:617140 |
Degcags Syndrome |
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Agenesis of corpus callosum, Microcephaly |
OMIM:619488 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Ring Chromosome 13 Syndrome |
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Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Ventriculomegaly, Dysplastic corpus callosum, Patent ductus arteriosus after birth at term, Simpl... |
ORPHA:500150 |
Sotos Syndrome |
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Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
ORPHA:821 |
Hydrolethalus Syndrome 1 |
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Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, D... |
OMIM:236680 |
Peters-Plus Syndrome |
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Seizure, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:261540 |
Wiedemann-Rautenstrauch Syndrome |
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Chiari malformation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:264090 |
Focal Dermal Hypoplasia |
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Chiari malformation, Agenesis of corpus callosum, Microcephaly |
OMIM:305600 |
Genitopatellar Syndrome |
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Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Kabuki Syndrome 1 |
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Bilateral tonic-clonic seizure with focal onset, Microcephaly, Seizure, Lateral ventricle dilatat... |
OMIM:147920 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:93271 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:312870 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callo... |
OMIM:216340 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Patent ductus arteriosus, Thick corpus callosum |
OMIM:300967 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Townes-Brocks Syndrome |
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Chiari malformation, Agenesis of corpus callosum |
ORPHA:857 |
Witteveen-Kolk Syndrome |
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Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Craniofacial Microsomia 1 |
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Chiari malformation, Agenesis of corpus callosum |
OMIM:164210 |