Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
thymoma viral proto-oncogene 3
Synonyms:
Nmf350,  PKB gamma,  D930002M15Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Akt3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Akt3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Hemimegalencephaly
Focal cortical dysplasia, Seizure, Polymicrogyria, Epileptic spasm, Hemimegalencephaly, Myoclonus... ORPHA:99802
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Seizure ORPHA:83473

The table below shows human diseases predicted to be associated to Akt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
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
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Epilepsy, Photogenic, With Spastic Diplegia And Impaired Intellectual Development
Photosensitive tonic-clonic seizure OMIM:226800
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
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
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Generalized-onset seizure, Hypoplasia of t... OMIM:610031
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Chudley-Mccullough Syndrome
Seizure, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dysplastic corp... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Seizure, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callo... OMIM:614039
Developmental And Epileptic Encephalopathy 98
Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Refractory status epilepticus, Foca... OMIM:619605
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic seizure with foca... OMIM:611726
Lissencephaly 3
Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of... OMIM:611603
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Focal impaired awareness seizure, Seizure, Generalized-onset seizure,... ORPHA:65683
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Lissencephaly 4
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, ... OMIM:614019
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Developmental And Epileptic Encephalopathy 60
Myoclonic seizure, Global brain atrophy, Seizure, Hippocampal malrotation, Epileptic spasm, Tonic... OMIM:617929
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, C... OMIM:608716
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Seizure, Polymicrogyria, Abnormal basal ganglia morphology, ... ORPHA:101029
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:616187
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Generalized myoclonic seizure, Lateral ventricle dilatation, Infantile spasm... ORPHA:101071
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callos... ORPHA:250972
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Myoclonus, Agenesis of corpus callosum, Bilateral tonic-clonic sei... OMIM:616540
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Epi... OMIM:619606
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic se... OMIM:610003
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral atrophy, Seizure, Polymicrogyria, Hypoplasia of the brainstem, Hypop... OMIM:618730
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Hypoplasia of the pons, Hypoplasia of the brainstem, Infantile spasms, Agenesi... OMIM:619301
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callosum, Ce... OMIM:619302
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral a... OMIM:620537
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the hippocampus, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callosum... ORPHA:171680
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Seizure, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis... ORPHA:85179
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Bilateral tonic-clonic seiz... OMIM:620200
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Seizure, Secondary microcephaly, Dyspl... OMIM:620317
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl... ORPHA:300573
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Seizure, Progressive microcephaly,... OMIM:618959
Lissencephaly, X-Linked, 1
Seizure, Agenesis of corpus callosum, Pachygyria, Agyria, Lissencephaly OMIM:300067
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Generalized-onset seizure, Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Bilateral tonic-clonic ... OMIM:616139
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Seizure, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of t... OMIM:618492
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized myoclonic seizure, Agenesis of corpus callosum ORPHA:85334
Microcephaly 17, Primary, Autosomal Recessive
Seizure, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callo... OMIM:617090
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Seizure, Cerebral atrophy, Periventricular cysts, Abnormal b... ORPHA:255182
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Focal impa... OMIM:617904
Microlissencephaly
Lissencephaly, Cerebral cortical atrophy, Cerebellar atrophy, Polymicrogyria, Neuronal loss in th... ORPHA:1083
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:608636
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Thin corpus callosum, Seizure, Agenesis of corpus callosum OMIM:618286
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age rang... ORPHA:263516
Lennox-Gastaut Syndrome
Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Atonic... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s... ORPHA:98820
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Myoclonus, Diffuse cerebral atrophy, Bila... OMIM:615362
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Myoclonic seizure, Lateral ventricle dilatation, Reduced amygdala volume, Abnormal dentate nucleu... OMIM:619517
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Seizure, Agenesis of corpus callosum OMIM:613163
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum, Progressive mic... OMIM:617862
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Band Heterotopia
Lateral ventricle dilatation, Seizure, Polymicrogyria, Agenesis of corpus callosum, Hypoplastic h... OMIM:600348
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Cerebellar atrophy, Seizure, Agenesis of corpus callosum OMIM:618324
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Infantile spasms, Periventricular leukomalacia, Hypoplasia of the corpus callos... OMIM:619701
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Generalized myoclonic seizure, Typical absence seizure, Later... ORPHA:208447
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Peho-Like Syndrome
Cerebellar atrophy, Polymicrogyria, Myoclonus, Hypoplasia of the corpus callosum, Progressive mic... OMIM:617507
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... OMIM:613855
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Cerebellar atrophy, Seizure, Focal-onset seizure, Diffuse cereb... ORPHA:330050
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:619466
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Primary microcephaly, Seizure, Agenesis of corpus callosum OMIM:616681
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Hypoplasia of the corpus callosum, Tonic seizur... OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar vermis atrophy, Microcephaly, Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:614322
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Global brain atrophy, Infantile spasms, Hypoplasia of the corpus callosum, Microcephaly, Bilatera... OMIM:618470
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, P... OMIM:614559
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Seizure, Hypoplasia of the corpus callosum, Cerebellar hyp... OMIM:304100
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Hypoplasi... ORPHA:101070
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Usmani-Riazuddin Syndrome, Autosomal Recessive
Seizure, Agenesis of corpus callosum OMIM:619548
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Seizure, Cerebral atrophy, Cerebellar hypoplasia, Mic... OMIM:616171
Benign Familial Neonatal-Infantile Seizures
Focal clonic seizure, Tonic seizure, Neonatal seizure, Bilateral tonic-clonic seizure ORPHA:140927
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Bilateral t... OMIM:617106
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Bilateral toni... OMIM:226750
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Hypoplas... ORPHA:477774
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of... OMIM:618012
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Myoclonic seizure, Dysgenesis of the hippocampus, Hypoplasia of the... OMIM:618325
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:620540
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Cerebral cortical atrophy, Myoclonic seizure, Frontotemporal cerebral at... OMIM:618559
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Reduced cerebral white matter volume, Seizure, Cerebral atrophy, Epileptic spa... OMIM:617711
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Infantile spasms, Myoclonus, Hypoplasia of the corpus callosum, Tonic sei... OMIM:615859
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Limb myoclonus, Seizure, Abnormal hippocampus morphology, Focal-onset seizure... ORPHA:352582
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Focal hemiclonic seizure, Bilateral tonic-clonic... OMIM:616981
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, B... OMIM:620145
Glycine Encephalopathy 1
Myoclonus, Seizure, Agenesis of corpus callosum OMIM:605899
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Seizure, Absent hippocampal commissure, Agenesis of corpus callosum, Abno... OMIM:617542
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Seizure, Abnormal lateral ventricle morphology, Hypoplasia of the corpus call... ORPHA:488635
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401830
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Seizure, Cerebral atrophy, Hypoplasia of the corpus callosum, Bilateral tonic... OMIM:300423
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Microcephaly, Seizure, Agenesis of corpus callosum OMIM:274270
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum ORPHA:401820
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Periventri... OMIM:619616
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Polymicrogyria, Generalized-onset seizure, Hypoplasia of the corpus callosum, Microcepha... OMIM:604317
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617082
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Parietal cortical atrophy, Seizure, Agenesis of corpus callosum, Microcephaly, Frontal cortical a... OMIM:618766
Malignant Migrating Focal Seizures Of Infancy
Abnormal corpus callosum morphology, Myoclonic seizure, Cerebral atrophy, Epileptic spasm, Bilate... ORPHA:293181
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:609056
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Myoclonic seizure, Cerebellar atrophy, Seizure, Neuronal loss in the cerebra... ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Myoclonus, Generalized myoclonic seizure, Seizure OMIM:301020
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Secondary microcephaly, Epileptic ... ORPHA:289266
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Infantile spasms, Cerebellar hypoplasia, Microcephaly, Tonic seizure, Bilat... OMIM:620028
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Bilateral tonic-clonic ... OMIM:609924
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Brain Small Vessel Disease 2
Polymicrogyria, Schizencephaly, Bilateral tonic-clonic seizure, Porencephalic cyst, Focal-onset s... OMIM:614483
Foxg1 Syndrome
Abnormal corpus callosum morphology, Infantile spasms, Myoclonus, Hypoplasia of the corpus callos... ORPHA:561854
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Seizure, Hypoplasia of the brainstem, Periventricular cysts, Peri... ORPHA:255138
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Joubert Syndrome 30
Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, Superior cerebellar dys... OMIM:617622
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Cerebral atrophy, Abnormal cerebellum morphology, Myoclonus, Bilateral tonic-clonic seizure OMIM:204200
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of 3 months to 6 year... OMIM:618917
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Microcephaly, Seizure, Agenesis of corpus callosum ORPHA:2508
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Cerebellar hypopl... OMIM:617810
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Polymicrogyria, ... ORPHA:79243
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Cerebral atrophy, Infantile spasms, Hypoplasia of the corpus callosum, Microc... OMIM:617493
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Lissencephaly 7 With Cerebellar Hypoplasia
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agyria, Lissencephaly OMIM:616342
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired awareness seizure, Seizure OMIM:613970
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Seizure, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Mic... OMIM:616212
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Agenesis of corpus callosum OMIM:616570
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-... OMIM:271980
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Generalized non-motor (absence) seizure, Secondary microcephaly, Hypoplasia of the corpu... OMIM:616281
Severe Neonatal-Onset Encephalopathy With Microcephaly
Cerebral atrophy, Seizure, Polymicrogyria, Microcephaly, Bilateral tonic-clonic seizure ORPHA:209370
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Secondary microcephaly, Focal clonic seizure, E... OMIM:616211
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Seizure, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... OMIM:614833
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Cerebellar atrophy, Seizure, Cerebral atrophy, Dilated fourth ventricle, Pon... OMIM:620428
Cerebral Creatine Deficiency Syndrome 2
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Bilateral toni... OMIM:612736
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Optic nerve hypoplasia, Infantile spasms, Abnormal hippocampus morphology, Apl... ORPHA:572013
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, My... ORPHA:485350
Dravet Syndrome
Epilepsia partialis continua, Global brain atrophy, Dysgenesis of the hippocampus, Focal impaired... ORPHA:33069
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum, Seizure ORPHA:2101
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Cerebral atrophy, Epileptic spasm, Hypoplasia of the corpus callosum, Status e... OMIM:617105
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Seizure, Agenesis of corpus callosum OMIM:618238
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Seizure, Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis ... ORPHA:89844
Alpers-Huttenlocher Syndrome
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:726
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe... OMIM:613153
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure OMIM:615031
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Epileptic spasm, Myoclonus, Agenesis ... OMIM:617669
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Myoclonus, Cerebellar hypoplasia, Primary microcephaly, Partial age... OMIM:607196
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Cerebellar vermis atrophy, ... OMIM:618170
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Seizure, Agenesis of corpus callosum OMIM:164180
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia, Pac... OMIM:620316
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Hypoplasia of the optic tract, Second... ORPHA:500144
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Dysplastic corpus callosu... OMIM:618010
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Global brain atr... ORPHA:1929
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Generalized non-motor ... OMIM:619854
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the pons, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:617695
Dystonia 22, Juvenile-Onset
Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:620453
Unilateral Focal Polymicrogyria
Seizure, Intracerebral periventricular calcifications, Bilateral tonic-clonic seizure with focal ... ORPHA:268947
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Mitochondrial Complex I Deficiency, Nuclear Type 13
Reduced cerebral white matter volume, Cerebral atrophy, Hypoplasia of the corpus callosum, Microc... OMIM:618235
Severe Canavan Disease
Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Seizure, Megalencephaly ORPHA:314911
Hemimegalencephaly
Focal cortical dysplasia, Seizure, Polymicrogyria, Epileptic spasm, Hemimegalencephaly, Myoclonus... ORPHA:99802
Developmental And Epileptic Encephalopathy 47
Cerebellar atrophy, Secondary microcephaly, Focal-onset seizure, Tonic seizure, Bilateral tonic-c... OMIM:617166
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Cerebellar atrophy, Generalized-onset seizure, Secondary microcephaly, Abnorma... OMIM:619835
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Seizure, Agenesis of corpus callosum OMIM:615286
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Abnormal g... OMIM:618603
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Myoclonic seizure, Lateral ventricle dilatation, Seizure, Microcephaly, Bilateral tonic-clonic se... OMIM:615716
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Limb myoclonus, Seizure, Polymicrogyria, Focal aware seizure, Partial a... ORPHA:101030
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Developmental And Epileptic Encephalopathy 4
Generalized myoclonic seizure, Cerebral atrophy, Epileptic spasm, Hypoplasia of the corpus callos... OMIM:612164
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:300607
Microhydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia,... OMIM:605013
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:618237
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Secondary ... OMIM:616672
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:166024
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus ca... OMIM:615095
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Dysgenesis of the hippocampus, Agenesis of corpus callosum ORPHA:238722
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Seizure, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebel... OMIM:615249
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Opti... OMIM:218670
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the pons, Seizure, Polymicrogyria, Type II liss... ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Dworschak-Punetha Neurodevelopmental Syndrome
Seizure, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Colpocephaly OMIM:619955
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Seizure, Hypoplasia of the brainstem, I... ORPHA:2524
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Focal myoclonic seizure, Seizure, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebral w... ORPHA:464282
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Seizure, Myoclonus, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly OMIM:312170
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Septo-optic dysplasia, Lissence... ORPHA:1528
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Microcephaly, Partial agenesis of the corpus callosum, Status epilepticus, Seizure OMIM:618346
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation, Bilateral tonic-clonic seizure OMIM:619278
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Lateral ventricle dilatation, Seizure, Infantile spasms, Tonic seizure, Bilate... OMIM:600721
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Febrile seizure (within the age range of 3 months to 6 years), Agenesis of corpus c... OMIM:619989
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Partial agenesis of the corpus callosum, Seizure OMIM:245349
Greig Cephalopolysyndactyly Syndrome
Seizure, Agenesis of corpus callosum ORPHA:380
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Seizure, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Status epilep... ORPHA:529665
Baraitser-Winter Syndrome 2
Seizure, Secondary microcephaly, Agenesis of corpus callosum, Pachygyria, Lissencephaly OMIM:614583
Developmental And Epileptic Encephalopathy 31B
Myoclonic seizure, Reduced cerebral white matter volume, Seizure, Secondary microcephaly, Infanti... OMIM:620352
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Seizure, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosu... OMIM:225790
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:618577
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Cerebellar atrophy, Seizure, Cerebral atrophy, Myoclo... ORPHA:168491
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Epileptic spasm, Microcephaly, Bilateral tonic-clonic seizure, Thin corpus cal... OMIM:619877
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:600118
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:218350
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Abnormal basal ganglia MRI signal intensity, ... ORPHA:363558
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Seizure, Agenesis of corpus callosum ORPHA:261519
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Hyperintensity of cerebral white matter on... OMIM:272300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Seizure, Agenesis of corpus callosum ORPHA:2182
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bilateral tonic-clonic seizure, Focal motor seizure, Seizure OMIM:619911
X-Linked Intellectual Disability, Hedera Type
Hypoplasia of the corpus callosum, Cerebellar atrophy, Bilateral tonic-clonic seizure, Atonic sei... ORPHA:93952
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Myoclonus, Seizure, Agenesis of corpus callosum OMIM:250620
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Myoclonus, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Generalized... ORPHA:313772
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Pachygyria, Lis... OMIM:619827
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Seizure, Agenesis of corpus callosum ORPHA:1496
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:618093
6Q25 Microdeletion Syndrome
Microcephaly, Seizure, Agenesis of corpus callosum ORPHA:251056
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Masa Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:303350
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:616239
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of... OMIM:618606
Lissencephaly, X-Linked, 2
Lissencephaly, Pachygyria, Seizure, Agenesis of corpus callosum OMIM:300215
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:300558
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:614487
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Reduced cerebral white matter volume, Seizure, Cerebral atrophy, Polymicrogyria, Hypoplasia of th... OMIM:620156
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Bilateral tonic-clonic s... ORPHA:99742
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Seizure, Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Abnorm... ORPHA:79264
Chromosome 3Q13.31 Deletion Syndrome
Seizure, Agenesis of corpus callosum OMIM:615433
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure ORPHA:91131
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Myoclonic seizure, Basal ganglia calcification, Cerebral calcificat... OMIM:617281
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly OMIM:618142
Microphthalmia, Syndromic 11
Hippocampal malrotation, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic sei... OMIM:617600
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Seizure, Basal ganglia calcification, Agenesis of corpus callosum, Cerebellar... OMIM:214150
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure OMIM:614618
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Bilateral tonic-clonic seizure ORPHA:369840
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Seizure OMIM:620655
Posttransplant Acute Limbic Encephalitis
Myoclonus, Abnormal hippocampus morphology, Seizure ORPHA:163921
Autosomal Recessive Primary Microcephaly
Pachygyria, Microcephaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum ORPHA:2512
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basa... ORPHA:300570
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Hypoplasia of the brainstem, Focal-onset seizure, Hypopl... OMIM:618354
Intellectual Developmental Disorder, Autosomal Dominant 65
Infantile spasms, Dysgenesis of the hippocampus, Seizure, Agenesis of corpus callosum OMIM:619320
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure ORPHA:309155
4Q21 Microdeletion Syndrome
Cerebellar hypoplasia, Seizure, Agenesis of corpus callosum ORPHA:238750
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Microcephaly, Tonic seizure, Primary microcephaly, Partial agenesis of the... OMIM:616051
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Lateral ventricle dilatation, Cerebral atrophy, Seizure, Agenesis of corpus ... OMIM:619244
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Microcephaly, Seizure, Agenesis of corpus callosum ORPHA:452
Brain Malformations With Or Without Urinary Tract Defects
Chiari type I malformation, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:613735
Molybdenum Cofactor Deficiency, Type C
Hypoplasia of the pons, Polymicrogyria, Generalized-onset seizure, Cerebellar hypoplasia, Bilater... OMIM:615501
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Seizure, Generalized non-motor (absence) seizure, Cerebral atrophy,... OMIM:615802
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Houge-Janssens Syndrome 2
Microcephaly, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:616362
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Cerebellar dysplasia, Microcephaly, Seizure ORPHA:457240
Ritscher-Schinzel Syndrome 4
Dysgenesis of the hippocampus, Agenesis of corpus callosum, Cerebellar hypoplasia, Bilateral toni... OMIM:619435
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Focal myoclonic seizure, Seizure, Hypoplasia of the brainstem, Hypoplasia o... ORPHA:481152
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Abnormal periventricular white matter morphology, Myoclonus, Microcephaly, Nocturnal seizures, Bi... OMIM:619725
Greig Cephalopolysyndactyly Syndrome
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:175700
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Seizure, Infantile spasms, Hypoplasia of the corpus callosum, Microcephaly, B... ORPHA:544503
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Bilater... ORPHA:98795
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co... OMIM:604360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Inferior cerebellar vermis hypoplasia, Seizure, Agenesis of corpus callosum ORPHA:139471
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:619983
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Vici Syndrome
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Agenesis of corpus callosum, Cerebell... ORPHA:1493
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Abnormal cerebral white matter morphology, Bilateral tonic-cloni... ORPHA:275864
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Hypoplasia of the pons, Polymicrogyria, Infantile spasms, Bilatera... OMIM:620504
Microcephaly-Capillary Malformation Syndrome
Seizure, Cerebral atrophy, Infantile spasms, Myoclonus, Hypoplasia of the corpus callosum, Hypopl... OMIM:614261
Bilateral Polymicrogyria
Aplasia/Hypoplasia of the cerebral white matter, Aplasia/Hypoplasia of the brainstem, Cerebellar ... ORPHA:268940
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Seizure, Agenesis of corpus callosum OMIM:218000
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure ORPHA:98784
Slc35A2-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Infantile spasms, Hy... ORPHA:356961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Seizure, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Agenesis of co... OMIM:613150
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Seizure, Febrile seizure (within the age range of 3 months to 6 yea... OMIM:620073
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P... OMIM:616819
Temtamy Syndrome
Thick corpus callosum, Seizure, Agenesis of corpus callosum OMIM:218340
Encephalocraniocutaneous Lipomatosis
Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, C... OMIM:613001
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Dand... OMIM:616602
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Seizure, Cerebral calcification, Agenesis of corpus callosum, Cerebellar hypoplasia, Chiari type ... OMIM:618476
Walker-Warburg Syndrome
Lissencephaly, Abnormal cortical gyration, Seizure, Polymicrogyria, Absent septum pellucidum, Age... ORPHA:899
X-Linked Intellectual Disability Due To Gria3 Mutations
Cerebellar vermis hypoplasia, Seizure, Myoclonus, Hypoplasia of the corpus callosum, Bilateral to... ORPHA:364028
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Optic ne... OMIM:618381
Ring Chromosome 22 Syndrome
Microcephaly, Absent septum pellucidum, Seizure, Agenesis of corpus callosum ORPHA:1446
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Bilateral tonic-clonic seizure, Thin corpus callosum,... OMIM:600092
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Deep cerebral white matter hyperintensi... ORPHA:199354
Migraine, Familial Hemiplegic, 2
Cerebral edema, Focal motor seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:602481
Septo-Optic Dysplasia Spectrum
Seizure, Absent septum pellucidum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebel... ORPHA:3157
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Seizure, Agenesis of corpus callosum, Ch... OMIM:619720
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Seizure, Agenesis of corpus callosum OMIM:300004
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Myoclonic seizure, ... OMIM:620024
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Cerebellar atrophy, Epileptic spasm, Microcephaly, Tonic seizure, Clonic seizu... OMIM:619580
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal hippocampus morphology, Seizure, Optic nerve hypoplasia ORPHA:401777
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:300887
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Agenesis of corpus c... OMIM:253800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypoplasia, Abnormal cortical gyration, Generalized non-motor (absence) seizure, Epilept... ORPHA:79351
Baraitser-Winter Syndrome 1
Seizure, Agenesis of corpus callosum, Microcephaly, Pachygyria, Lissencephaly OMIM:243310
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal ganglia, Abnormal basal ganglia mor... ORPHA:86822
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cerebral cortical atrophy, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Abs... ORPHA:96147
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Primary microcephaly, Bilateral tonic-clonic se... ORPHA:478029
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Bilateral tonic... ORPHA:329308
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Seizure, Agenesis of corpus callosum ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Seizure, Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Part... OMIM:619103
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:610042
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Seizure, Hypoplasia of the brainstem, Agenesis of corpus c... OMIM:248700
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Seizure, Generalized non-motor (absence) seizure, Agenesis of corpus callosum OMIM:612337
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu... OMIM:604804
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Seizure, Agenesis of corpus callosum ORPHA:459061
D-Glyceric Aciduria
Cerebral cortical atrophy, Seizure, Focal clonic seizure, Myoclonus, Microcephaly, Bilateral toni... OMIM:220120
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Jaberi-Elahi Syndrome
Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Microcephaly, Substantia nigra hypo... OMIM:617988
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Primary microcephaly, Agenesis of corpus callosum ORPHA:466688
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Bilateral tonic-clonic seizure with focal onset ORPHA:254881
1Q44 Microdeletion Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Agenesis of corpus callosum ORPHA:238769
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Seizure, Hypoplasia of the corpus callos... ORPHA:488627
Fg Syndrome 3
Chiari type I malformation, Agenesis of corpus callosum OMIM:300406
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Seizure, Agenesis of corpus callosum OMIM:620250
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Seizure, Secondary microcephaly, Epileptic spasm, Hypoplasia of the corpus ca... OMIM:617193
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Global brain atrophy, Seizure, Generalized non-motor (absence) seizure... ORPHA:457351
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Seizure, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Lissencephaly, Simplified gyral... OMIM:615219
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Cerebellar atrophy, Seizure, Generalized non-motor (absence) ... ORPHA:1934
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Seizure, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:620113
Joubert Syndrome 18
Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Immunodeficiency 49
Reduced cerebral white matter volume, Seizure, Agenesis of corpus callosum OMIM:617237
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ce... OMIM:301056
Pelger-Huet Anomaly