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
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... OMIM:615937
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Atonic seizure, Myoclonus, Epileptic spasm, Polymicrogyr... 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
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Polymicrogy... OMIM:604213
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Fusion of the caudate and putamen, Hypoplasia of the corpus cal... OMIM:614039
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Bilateral toni... ORPHA:101685
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Lissencephaly 3
Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Cerebellar vermis hypopl... OMIM:611603
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 98
Thick corpus callosum, Perisylvian polymicrogyria, Clonic seizure, Cerebral atrophy, Bilateral to... OMIM:619605
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Seizure, Ab... ORPHA:101029
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:162350
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Seizure, Simplified gyral pattern, Co... OMIM:614019
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Thick corpus callosum, Perisylvian polymicrogyria, Focal hemiclonic seizure, ... OMIM:619606
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Infantile spasms, Polymicrogyria, Bilateral t... ORPHA:250972
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness seizure, Cerebellar at... OMIM:610003
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... OMIM:617831
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Microcephaly, Hypoplasia... OMIM:618730
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Seizure, Agen... ORPHA:85179
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Generalized myoclonic seizure, Infantile spasms, Cortical dysplasia, Thick c... ORPHA:101071
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Infantile spasms, Myoclonic seizure, Cerebellar hypoplasia, Bilateral ton... OMIM:619301
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:618924
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Pontocerebellar Hypoplasia, Type 15
Infantile spasms, Cerebellar hypoplasia, Myoclonic seizure, Partial agenesis of the corpus callos... OMIM:619302
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... OMIM:204300
Band Heterotopia
Agenesis of corpus callosum, Subcortical band heterotopia, Polymicrogyria, Seizure OMIM:600348
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... OMIM:618959
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Seizure, Pachygyria, Agenesis of corpus callosum OMIM:300067
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Generalized-onset seizure, Agenesis of corpus callosum ORPHA:459074
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Cerebellar hypoplasia, Seizure, Simplified gyral pattern, Microlissencephaly, Agene... OMIM:617090
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Bilateral tonic-clonic seizure, Cortical dysplasia, Cerebellar atrophy OMIM:608278
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... OMIM:616139
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, S... OMIM:618492
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Generalized myoclonic seizure ORPHA:85334
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:254800
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly... ORPHA:255182
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partial agenesis of t... OMIM:304100
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia, Seizure OMIM:613163
Microlissencephaly
Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical... ORPHA:1083
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Hypoplasia of the pons, Cortic... ORPHA:300573
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis, Seizure OMIM:300864
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Microcephaly, Myoclonus, Hypoplasia of the pons, Seizure, Agenesis of ... OMIM:617669
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Progressive Myoclonic Epilepsy Type 3
Cerebral atrophy, Myoclonus, Microcephaly, Limb myoclonus, Febrile seizure (within the age range ... ORPHA:263516
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... OMIM:614018
Microcephaly 16, Primary, Autosomal Recessive
Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Seizure OMIM:616681
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Tonic seizure, Microcephaly, Myoclonic seizure, Abnormal dentate nucleus... OMIM:619517
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:86909
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Cerebral atrophy, Microcephaly, Infantile spasms, Hypoplasia of the corpus ca... OMIM:619701
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Primary microcephaly, Cerebellar hypoplasia, Polymicrogyria ORPHA:171703
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... OMIM:613855
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Infantile Cerebellar-Retinal Degeneration
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral whi... OMIM:614559
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Hypoplasia of the ... ORPHA:178469
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure OMIM:619466
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Diffuse cere... ORPHA:330050
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure OMIM:619000
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Intellectual Developmental Disorder, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Cerebellar... OMIM:616981
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Abnormal hippocampus morphology, Generaliz... ORPHA:352582
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:618856
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus OMIM:616230
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalence... OMIM:615937
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cerebellar a... OMIM:300423
Combined Oxidative Phosphorylation Defect Type 27
Status epilepticus, Diffuse cerebellar atrophy, Generalized myoclonic seizure, Hypoplasia of the ... ORPHA:477774
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Seizure OMIM:619548
Developmental And Epileptic Encephalopathy 79
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical atro... OMIM:618559
Glycine Encephalopathy
Myoclonus, Agenesis of corpus callosum, Seizure OMIM:605899
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Agenesis of corpus callosum, Cerebral atrophy, Seizure OMIM:274270
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cerebel... ORPHA:488635
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-... ORPHA:382
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Microcephaly, Infantile spasms, Myoclonic seizure, Hypoplasia of the corpus callosum, Bilateral t... OMIM:619616
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Agenesis of corpus callosum, Abnormality of the anterior commissure, Seiz... OMIM:617542
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Congenital Neuronal Ceroid Lipofuscinosis
Status epilepticus, Cerebral hypoplasia, Microcephaly, Myoclonic seizure, Cerebellar hypoplasia, ... ORPHA:168486
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, Bilateral... OMIM:619317
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Seizure, Agenesis of corpus ca... OMIM:618766
Brain Small Vessel Disease 2
Polymicrogyria, Schizencephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Porencephali... OMIM:614483
Ceroid Lipofuscinosis, Neuronal, 3
Abnormal cerebellum morphology, Cerebral atrophy, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:204200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Generalized tonic seizure, Myoclonus, Epileptic spasm, Hypoplasia of the corpus callosum, Febrile... ORPHA:289266
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Developmental And Epileptic Encephalopathy 106
Tonic seizure, Focal clonic seizure, Microcephaly, Infantile spasms, Cerebellar hypoplasia, Bilat... OMIM:620028
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Clonic seizure, Cerebral atrophy, Tonic seizure, Febrile seizure (within the age range of 3 month... OMIM:618917
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Pyruvate Dehydrogenase E1-Beta Deficiency
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... ORPHA:255138
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Myoclonic seizure, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, General... OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Generalized myoclonic seizure OMIM:617836
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Seizure ORPHA:2508
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure OMIM:613970
Foxg1 Syndrome
Status epilepticus, Myoclonus, Infantile spasms, Hypoplasia of the corpus callosum, Bilateral ton... ORPHA:561854
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... OMIM:614833
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Microcephaly, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Generalized non-... OMIM:616281
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Abnormal basal g... ORPHA:363558
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Cerebellar hypoplasia, Seizure, Hydranencephaly, Agenesis of corpus callosum, Dandy... OMIM:225790
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Seizure, Agenesis of corpus callosum OMIM:616342
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Myoclonus, Agenesis of corpus callosum, Seizure OMIM:250620
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... OMIM:612736
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... OMIM:271980
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Focal impaired awareness seizure, Myoclonus, Microcephaly, Infantile s... ORPHA:485350
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Cerebral atrophy, Generalized myoclonic seizure, Generalized tonic seizure, E... OMIM:612164
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Microcephaly, Basal ganglia cysts, Seizure, Agenesis of corpus callosum OMIM:312170
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Severe Canavan Disease
Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Megalencephaly, Seizure ORPHA:314911
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum, Seizure ORPHA:2101
Lissencephaly 6 With Microcephaly
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... OMIM:616212
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar vermis atrophy, Cerebral atrophy, Microcephaly, Bilateral tonic-clonic seizure, Genera... OMIM:618170
Dravet Syndrome
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... ORPHA:33069
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Myoclo... OMIM:619913
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Cerebellar gliosis, Basal ganglia cysts, Microcephaly, ... ORPHA:79243
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, S... OMIM:610539
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Focal impaired awareness seizure, Generalized myoclonic seizure, Cerebral atrophy, Bilateral toni... ORPHA:1947
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro... ORPHA:89844
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Seizure OMIM:164180
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum, Seizure OMIM:618238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type II... OMIM:613153
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly, Seizure OMIM:618010
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized-onset se... OMIM:619835
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Focal motor seizure, Bilateral tonic-clonic se... ORPHA:1929
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Atonic seizure, Myoclonus, Epileptic spasm, Polymicrogyr... ORPHA:99802
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Hypoplasia of the optic tract, Myoclonus, Hypoplasia of the pons, Epil... ORPHA:500144
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Microhydranencephaly
Generalized myoclonic seizure, Microcephaly, Cerebellar hypoplasia, Pachygyria, Hydranencephaly, ... OMIM:605013
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Cerebral cortical atrophy, Cerebral atrophy, Myoclonus, Microcephaly, Cerebel... OMIM:616672
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure OMIM:301058
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:618237
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Unilateral Focal Polymicrogyria
Focal motor seizure, Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Bilateral t... ORPHA:268947
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Generalized myoclonic seizure, Microcephaly, Hypoplasia of the corpus callosum,... ORPHA:464282
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Seizure OMIM:615286
Subependymal Nodular Heterotopia
Focal aware seizure, Limb myoclonus, Polymicrogyria, Partial agenesis of the corpus callosum, Foc... ORPHA:101030
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:612948
Spinocerebellar Ataxia 23
Agenesis of corpus callosum, Cerebellar atrophy OMIM:610245
Amish Lethal Microcephaly
Microcephaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Lissencephaly, Agenes... ORPHA:99742
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Seizure, Ag... OMIM:618603
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum ORPHA:166024
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Agenesis of corpus callosum, Dandy-Walker malformation, Hypoplasia of the corpus callosum ORPHA:262767
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Cortical dysplasia, Anencephaly, Cerebellar hypoplasia, Type II lissencephaly, Seizure, Agenesis ... OMIM:615287
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Cerebellar atrophy, Se... ORPHA:529665
Dentici-Novelli Neurodevelopmental Syndrome
Microcephaly, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Thin corpus cal... OMIM:619877
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Hyperinten... OMIM:272300
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Cortical myoclonus, Atonic seizure, Cerebral atrophy, Generalized myoclo... ORPHA:168491
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus callosum, Liss... OMIM:218670
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Myoclonic seizure, Hypoplasi... OMIM:619091
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Bilateral tonic-clonic seizure, Seizure OMIM:619911
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal cerebellum morphology, Diffuse white matter abnormalities, Microcephaly, Optic nerve hyp... ORPHA:370959
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum, Cerebellar atrophy, Atonic sei... ORPHA:93952
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Status epilepticus, Microcephaly, Partial agenesis of the corpus callosum, Seizure OMIM:618346
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly, Seizure OMIM:245349
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Myoclonus, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, ... ORPHA:313772
Baraitser-Winter Syndrome 2
Lissencephaly, Seizure, Pachygyria, Secondary microcephaly, Agenesis of corpus callosum OMIM:614583
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Seizure ORPHA:380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly, Seizure, Progr... OMIM:615249
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Microcephaly, Bilateral tonic-clonic seizure, Generalized-onset seizure, Lissencephaly, Seizure, ... OMIM:619827
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Agenesis of corpus c... OMIM:619989
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar atrophy, Seizure,... OMIM:616239
Maternal Uniparental Disomy Of Chromosome X
Microcephaly, Agenesis of corpus callosum, Seizure ORPHA:261519
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of ... OMIM:600118
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Hypoplasia of the ventral pons, Dysplastic... ORPHA:2524
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Cerebellar atrophy, Generalized myoclonic seizure OMIM:614487
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure OMIM:218350
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Cerebellar atrophy OMIM:618093
Craniotelencephalic Dysplasia
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Septo-optic dysplasia, Agene... ORPHA:1528
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure OMIM:618577
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Bilateral tonic-clonic seizure ORPHA:369840
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Seizure ORPHA:2182
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:619428
Masa Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:303350
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Myoclonic spasms, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral... ORPHA:79264
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Seizure ORPHA:1496
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
6Q25 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Seizure ORPHA:251056
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Focal-onset seizure ORPHA:91131
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Abnormal periventricular white ... OMIM:618476
Behavioral Variant Of Frontotemporal Dementia
Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy, Bilateral tonic-cloni... ORPHA:275864
Lissencephaly, X-Linked, 2
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Seizure OMIM:300215
Intellectual Developmental Disorder, Autosomal Dominant 45
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G... OMIM:617600
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Cerebrooculofacioskeletal Syndrome 1
Basal ganglia calcification, Microcephaly, Cerebellar hypoplasia, Diffuse cerebral atrophy, Cereb... OMIM:214150
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Retrocerebellar cyst, Seizure OMIM:603671
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Brain Malformations With Or Without Urinary Tract Defects
Chiari type I malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure OMIM:613735
Pontocerebellar Hypoplasia, Type 13
Status epilepticus, Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cere... OMIM:618606
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Lissencephaly, Seizure, Agenesis of corpus callosum OMIM:618142
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Cerebellar dysplasia, Seizure ORPHA:457240
4Q21 Microdeletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Seizure ORPHA:238750
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... ORPHA:98795
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia OMIM:607196
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Large basal ganglia, Abnormal cerebellar vermis morphology, Hypoplasia of the corpus callosum, Po... ORPHA:300570
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Microcephaly, Infantile spasms, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure... ORPHA:544503
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Bil... OMIM:615501
Autosomal Recessive Primary Microcephaly
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes ORPHA:2512
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Infantile spasms, Agenesis of corpus callosum, Seizure OMIM:619320
Microcephaly 13, Primary, Autosomal Recessive
Tonic seizure, Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Prim... OMIM:616051
Posttransplant Acute Limbic Encephalitis
Myoclonus, Abnormal hippocampus morphology, Seizure ORPHA:163921
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Seizure OMIM:300952
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Lissencephaly Type Iii And Bone Dysplasia
Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Hypoplasia of the... OMIM:601160
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... ORPHA:501
Ritscher-Schinzel Syndrome 4
Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Focal-onset seizure, Dysgenesis of the hip... OMIM:619435
Craniosynostosis 6
Microcephaly, Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker malformation, Abnorma... OMIM:616602
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... OMIM:604360
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Generalized myoclonic seizure, Aplasia/Hypoplasia of the cerebral whi... ORPHA:268940
X-Linked Lissencephaly With Abnormal Genitalia
Microcephaly, Pachygyria, Agenesis of corpus callosum, Seizure ORPHA:452
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:619983
Intellectual Developmental Disorder, Autosomal Dominant 36
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure OMIM:616362
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... OMIM:618736
Vici Syndrome
Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Seizure, Agenesis of co... ORPHA:1493
Microphthalmia With Brain And Digit Anomalies
Microcephaly, Agenesis of corpus callosum, Inferior cerebellar vermis hypoplasia, Seizure ORPHA:139471
Canavan Disease
Bilateral tonic-clonic seizure, Epileptic spasm OMIM:271900
Nivelon-Nivelon-Mabille Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Focal-onset seizure, ... OMIM:600092
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Seizure, Simplified... OMIM:619244
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Nocturnal seizures, Myoclonus, Bilateral tonic-clonic seizure, Abnormal periventric... OMIM:619725
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Seizure OMIM:218000
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Seizure OMIM:175700
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, F... ORPHA:481152
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Deep cerebral white matter hyperintensities, Diffuse cerebral atrophy, Bilateral tonic-clonic sei... ORPHA:199354
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
D-Glyceric Aciduria
Status epilepticus, Cerebral cortical atrophy, Focal clonic seizure, Optic nerve hypoplasia, Myoc... OMIM:220120
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... OMIM:616819
Encephalocraniocutaneous Lipomatosis
Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Seizure, Porencepha... OMIM:613001
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure, Cerebral edema, Cerebellar atrophy OMIM:602481
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Myoclonus, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, B... ORPHA:364028
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Walker-Warburg Syndrome
Macrogyria, Microcephaly, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Polymicro... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Microcephaly, Cerebellar hypoplasia, Partial absence of cerebellar vermis, Type II li... OMIM:613150
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Leukoencephalopathy, Secondary microcephaly, Bilateral tonic-clonic seizure, Corpus callosum atrophy OMIM:608809
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Imagawa-Matsumoto Syndrome
Agenesis of corpus callosum, Polymicrogyria OMIM:618786
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Cerebral cortical atrophy, Focal impaired awareness seizure, Tonic seizure, ... OMIM:620024
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Microcephaly, Myoclonic seizure,... OMIM:619580
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, ... OMIM:615802
Slc35A2-Cdg
Cerebral atrophy, Microcephaly, Infantile spasms, Cortical dysplasia, Hypoplasia of the corpus ca... ORPHA:356961
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Jaberi-Elahi Syndrome
Cerebellar vermis atrophy, Substantia nigra hypointensity on susceptibility-weighted imaging, Mic... OMIM:617988
Temtamy Syndrome
Agenesis of corpus callosum, Seizure OMIM:218340
Fumarase Deficiency
Status epilepticus, Cerebral atrophy, Open operculum, Microcephaly, Polymicrogyria, Agenesis of c... OMIM:606812
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypoplasia, Atonic seizure, Generalized myoclonic seizure, Microcephaly, Epileptic spasm... ORPHA:79351
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure ORPHA:98784
Ring Chromosome 22 Syndrome
Microcephaly, Agenesis of corpus callosum, Absent septum pellucidum, Seizure ORPHA:1446
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cer... ORPHA:329308
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Primary microcephal... ORPHA:478029
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe... ORPHA:86822
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum, Seizure OMIM:613174
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Microcephaly, Agenesis of corpus callosum, Seizure OMIM:300004
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Abnormal hippocampus morphology, Hypoplasia of the corpus callosum, Seizure ORPHA:401777
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Generalized tonic seizure, Microcephaly, Epileptic spasm, Hypoplasia of the corpus callosum, Diff... OMIM:617193
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Agenesis of corpus callosum, Seizure ORPHA:261144
Baraitser-Winter Syndrome 1
Microcephaly, Lissencephaly, Seizure, Pachygyria, Agenesis of corpus callosum OMIM:243310
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Seizure OMIM:612337
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Marden-Walker Syndrome
Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Seizure, Agenesis of ... OMIM:248700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebral cortical atrophy, Microcephaly, Cerebellar vermis hypoplasia, Seizure, Thin corpus callo... OMIM:619720
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Septo-... ORPHA:3157
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... OMIM:604804
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Microcephaly, Cerebellar vermis hypoplasia, Primary microcephaly, Agenesis of corpus callosum ORPHA:466688
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure OMIM:169400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Kleefstra Syndrome Due To 9Q34 Microdeletion
Status epilepticus, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microcephaly, Epile... ORPHA:96147
1Q44 Microdeletion Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Agenesis of corpus callosum ORPHA:238769
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized tonic seizure, Pachygyria, Diffuse white matter abnormalities, Myoclo... ORPHA:1934
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation, Seizure ORPHA:459061
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Cerebral atrophy, Tonic seizure, Myoclonus... OMIM:615851
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Generalized myoclonic seizure, Microcephaly, Infantile spasms, Hypopla... ORPHA:457351
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Cerebellar hypoplasia, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, ... OMIM:253800
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum OMIM:614120
Developmental And Epileptic Encephalopathy 95
Status epilepticus, Cerebellar vermis atrophy, Cerebral cortical atrophy, Cerebral atrophy, Micro... OMIM:618143
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria, Seizure ORPHA:220497
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Infantile spasms, Focal impaired awareness seizure, Interhypothalami... OMIM:618929
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Microcephaly, Abnormal cerebral white matter morphology, Bilateral... ORPHA:395
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Microcephaly, Hypoplasia of the corpus callosum, Generalized non-motor (ab... OMIM:617360
Arnold-Chiari Malformation Type Ii
Cortical dysplasia, Abnormal medulla oblongata morphology, Polymicrogyria, Partial agenesis of th... ORPHA:1136
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized tonic seizure, Infan... ORPHA:480864
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... OMIM:301056
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:616900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, P... OMIM:236670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral hypoplasia, Cerebral atrophy, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, M... ORPHA:468631
Nizon-Isidor Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure OMIM:618872
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c... OMIM:222448
Carnitine Palmitoyltransferase Ii Deficiency
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Cerebellar vermis hypo... ORPHA:157
Acromelic Frontonasal Dysplasia
Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Retrocerebellar cyst, Seizure ORPHA:1827
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum OMIM:615433
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Polymicrogyria, Seizure ORPHA:220493
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morph... ORPHA:163681
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Cerebral atrophy, Tonic seizure, Pachygyria, Myoclonus, Infantile spasms... OMIM:619777
Emanuel Syndrome
Cerebral atrophy, Microcephaly, Abnormal cerebral white matter morphology, Chiari malformation, S... ORPHA:96170
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Agenesis of corpus callosum OMIM:610680
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Generalized tonic seizure, Hypoplasia of the corpus callosum, Febrile ... ORPHA:496641
Contractures-Developmental Delay-Pierre Robin Syndrome
Chiari type I malformation, Cerebral white matter hypoplasia, Abnormal hippocampus morphology, Fo... ORPHA:436003
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Cerebral dysmyelination, Atonic seizure, Cerebral c... ORPHA:72
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Frontonasal Dysplasia 1
Agenesis of corpus callosum, Pericallosal lipoma OMIM:136760
Meckel Syndrome 12
Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:616258
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Microcephaly OMIM:249630
Desmosterolosis
Status epilepticus, Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cortical gyra... ORPHA:35107
Curry-Jones Syndrome
Polymicrogyria, Megalencephaly, Chiari type I malformation, Hemimegalencephaly, Agenesis of corpu... OMIM:601707
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Agenesis of corpus callosum OMIM:618733
Leigh Syndrome
Status epilepticus, Abnormal basal ganglia MRI signal intensity, Infantile spasms, Olivopontocere... ORPHA:506
Intellectual Disability-Strabismus Syndrome
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure ORPHA:363528
Chromosome 6Pter-P24 Deletion Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation, Seizure OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 53
Thick corpus callosum, Microcephaly, Febrile seizure (within the age range of 3 months to 6 years... OMIM:617798
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum OMIM:252650
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Seizure OMIM:619312
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Chiari malformation, Colpoceph... OMIM:609053
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
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
Hermansky-Pudlak Syndrome 10
Microcephaly, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Cerebral atrophy OMIM:617050
Holoprosencephaly 14
Microcephaly, Partial absence of cerebellar vermis, Partial agenesis of the corpus callosum, Bila... OMIM:619895
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Generalized myoclonic seizure, Microcephaly, Cerebellar hypoplasia, Bilatera... OMIM:257300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Cerebellar vermis hypo... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, T... OMIM:616973
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum OMIM:619074
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Halperin-Birk Syndrome
Colpocephaly, Generalized-onset seizure, Agenesis of corpus callosum, Focal-onset seizure OMIM:618651
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:614924
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm... OMIM:300912
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Abnormal pons morphology, Paucity of anterior horn motor... ORPHA:79139
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Hypoplasia of the corpus callosum ORPHA:423479
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Elongated superior cerebellar peduncle, Tonic seizure, Microcephaly, Hypoplasia of the pons, Myoc... OMIM:619512
D-Bifunctional Protein Deficiency
Cerebral hypoplasia, Cerebral dysmyelination, Cortical dysplasia, Corpus callosum atrophy, Polymi... OMIM:261515
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure OMIM:616716
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Atonic seizure, Microcephaly, Bilateral tonic-clonic seizure, Generalized-onset seizure, Cerebell... OMIM:620066
Bohring-Opitz Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Seizure, Agenesis of corpus callosum, Dandy-Walk... OMIM:605039
Biotinidase Deficiency
Focal motor seizure, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:79241
Pyruvate Carboxylase Deficiency
Cerebellar gliosis, Basal ganglia gliosis, Infantile spasms, Cerebral white matter atrophy, Periv... ORPHA:3008
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum, Seizure ORPHA:420794
Vici Syndrome
Microcephaly, Schizencephaly, Cerebellar vermis hypoplasia, Seizure, Agenesis of corpus callosum OMIM:242840
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Secondary microcephaly, Dysplastic corpus callosum, Perivent... OMIM:619737
Xp21 Deletion Syndrome
Agenesis of corpus callosum, Seizure ORPHA:261476
Microform Holoprosencephaly
Microcephaly, Agenesis of corpus callosum, Seizure ORPHA:280200
8P Inverted Duplication/Deletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation, Seizure ORPHA:96092
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of corpus callosum, Agenesis of cerebellar vermis ORPHA:228390
Chromosome 13Q33-Q34 Deletion Syndrome
Microcephaly, Anencephaly, Seizure, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:619148
Chiari Malformation Type Ii
Agenesis of corpus callosum, Chiari malformation OMIM:207950
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Thin corpu