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:
PKB gamma,  D930002M15Rik,  Nmf350

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
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Hemimegalencephaly
Pachygyria, Atonic seizure, Focal tonic seizure, Status epilepticus, Polymicrogyria, Seizure, Hyp... 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
Seizure, Bilateral tonic-clonic 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
Mental Retardation, Autosomal Dominant 3
Seizure OMIM:612580
Mental Retardation, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Mental Retardation, Autosomal Recessive 52
Seizure OMIM:616887
Mental Retardation, Autosomal Dominant 2
Seizure OMIM:614113
Mental Retardation, Autosomal Recessive 10
Seizure OMIM:611096
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
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures 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
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Lissencephaly 4
Cerebellar hypoplasia, Seizure, Simplified gyral pattern, Microcephaly, Agenesis of corpus callos... OMIM:614019
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Myoclonic seizure, Bilat... OMIM:611726
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dysplasia, Seizure, Dysplast... OMIM:604213
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Isolated Focal Cortical Dysplasia
Nocturnal seizures, Thick cerebral cortex, Focal-onset seizure, Seizure, Infantile spasms, Abnorm... ORPHA:65683
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Cortical... OMIM:614039
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Rare Non-Syndromic Intellectual Disability
Absent septum pellucidum, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cerebral at... ORPHA:101685
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Seizure, Cortica... OMIM:608716
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar vermis hyp... OMIM:611603
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic se... OMIM:610003
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure,... ORPHA:101071
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Cer... OMIM:618730
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Abnormality of the basal ganglia, Age... ORPHA:101029
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Seizure... ORPHA:250972
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Cerebral atrophy, Seizure, Agenesis of corpus callosum, Partial agenesis... ORPHA:85179
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Bilateral tonic-clonic s... OMIM:616281
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Cortical dysplasia, Bilateral tonic-clonic seizure OMIM:608278
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Focal-onset seizure, Cerebellar hypoplasia, Bilateral tonic-clonic s... OMIM:619301
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Attention deficit hyperactivity di... ORPHA:280397
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-cloni... OMIM:616645
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Focal-onset seizure, Cerebellar hypoplasia, Bilateral tonic-clonic s... OMIM:619302
Microcephaly 13, Primary, Autosomal Recessive
Cerebellar hypoplasia, Seizure, Simplified gyral pattern, Microcephaly, Partial agenesis of the c... OMIM:616051
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Band Heterotopia
Seizure, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum OMIM:600348
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Seizure, Inferior vermis hypoplasia, Progressive microcephaly, Partial ag... OMIM:618959
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Lissencephaly, X-Linked, 1
Pachygyria, Seizure, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebral atrophy, Bilateral tonic-clonic s... OMIM:300423
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Cerebellar hypoplasia, Seizure, Simplified gyral pattern, Microcepha... OMIM:617090
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebra... OMIM:618492
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Arnold-Chiari type I malformation, Agenesis of corpus callosum, Generalized-onset seizure ORPHA:459074
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... ORPHA:255182
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Generalized myoclonic seizure ORPHA:85334
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Polymi... ORPHA:98820
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Seizure, Inferior vermis hypoplasia, Microcephaly, Partial agenesis of the... OMIM:304100
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Gaba-Transaminase Deficiency
Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Focal impa... OMIM:618587
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Cerebral cortical atrophy, Myoclonus, Microcephaly, Agenesis of corpus callosum, Hypopla... OMIM:617669
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Microcephaly 16, Primary, Autosomal Recessive
Seizure, Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Generalized tonic seizure, Focal emotional seizure with laugh... ORPHA:208447
Lissencephaly 7 With Cerebellar Hypoplasia
Cerebellar hypoplasia, Seizure, Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... OMIM:619157
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Immunodeficiency 8
Hyperactivity OMIM:615401
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Atonic seizure, Cerebellar vermis hypoplasia, Cerebellar dysplasia, ... ORPHA:101070
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:171703
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Cerebellar atro... ORPHA:330050
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Cortical dysplasia, Focal impaired awareness seizure, Mi... ORPHA:208441
Mental Retardation, Autosomal Dominant 22
Seizure, Microcephaly, Agenesis of corpus callosum OMIM:612337
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizur... ORPHA:352582
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Seizure, Cerebral cortical at... OMIM:618559
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Seizure... ORPHA:488635
Salt And Pepper Developmental Regression Syndrome
Global brain atrophy, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Microcephaly OMIM:609056
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Absent hippocampal ... OMIM:617542
Combined Oxidative Phosphorylation Defect Type 27
Multifocal seizures, Diffuse cerebellar atrophy, Hypoplasia of the corpus callosum, Abnormal cere... ORPHA:477774
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized cerebral atrophy/hypop... ORPHA:36387
Pyridoxine-Dependent Epilepsy
Hypoplasia of the corpus callosum, Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic se... ORPHA:3006
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Brain Small Vessel Disease 2
Porencephalic cyst, Focal-onset seizure, Bilateral tonic-clonic seizure, Polymicrogyria, Schizenc... OMIM:614483
Glycine Encephalopathy
Seizure, Myoclonus, Agenesis of corpus callosum OMIM:605899
Developmental And Epileptic Encephalopathy 6B
Hypoplastic hippocampus, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic s... OMIM:619317
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Status epilepticus, Seiz... ORPHA:168486
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Hypopla... ORPHA:289266
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Cerebral atro... OMIM:618917
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Global bra... ORPHA:363558
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Landau-Kleffner Syndrome
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... ORPHA:98818
Spinocerebellar Ataxia 14
Gait ataxia, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairment, Mental ... OMIM:605361
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:617836
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Seizure, Dilation of lateral ventricles, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... OMIM:300864
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Infantile Cerebellar-Retinal Degeneration
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Focal-onset seizure... OMIM:614559
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Frontal cortical atrophy, Seizure, Parietal cortical atrophy, Microcephaly, Agenesis of corpus ca... OMIM:618766
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Corticospinal tract hypopla... ORPHA:255138
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Severe Canavan Disease
Seizure, Megalencephaly, Cerebral white matter atrophy, Bilateral tonic-clonic seizure ORPHA:314911
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral tonic-c... OMIM:612164
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Cerebellar cyst, Hypoplasia o... ORPHA:79243
Foxg1 Syndrome
Pachygyria, Hypoplasia of the corpus callosum, Focal-onset seizure, Bilateral tonic-clonic seizur... ORPHA:561854
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Seizure, Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Optic nerve hypoplasia, ... OMIM:614833
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Seizure, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum ORPHA:2508
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:726
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Seizure, Hydranencephaly, Microcephaly, Agene... OMIM:225790
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Bilateral tonic-clo... ORPHA:485350
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Seizure, Myoclonus, Agenesis of corpus callosum OMIM:250620
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Cerebral atrophy, Seizure, Microcephaly, Agenesis of corpus callosum OMIM:312170
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Hypoplasia of the corpus callosum, Focal-onset seizure, Convulsive status epilepticus OMIM:618760
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Genera... ORPHA:382
Rasmussen Subacute Encephalitis
Generalized tonic seizure, Global brain atrophy, Focal-onset seizure, Generalized convulsive stat... ORPHA:1929
Grubben-De Cock-Borghgraef Syndrome
Seizure, Partial agenesis of the corpus callosum ORPHA:2101
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral ton... ORPHA:464282
Hemimegalencephaly
Pachygyria, Atonic seizure, Focal tonic seizure, Status epilepticus, Polymicrogyria, Seizure, Hyp... ORPHA:99802
Unilateral Focal Polymicrogyria
Intracerebral periventricular calcifications, Simple febrile seizure, Seizure, Cortical dysplasia... ORPHA:268947
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Lissencephaly 6 With Microcephaly
Pachygyria, Hypoplasia of the corpus callosum, Seizure, Polymicrogyria, Cerebellar atrophy, Simpl... OMIM:616212
Dravet Syndrome
Generalized clonic seizure, Complex febrile seizure, Febrile seizure (within the age range of 3 m... ORPHA:33069
Mitochondrial Complex I Deficiency, Nuclear Type 16
Seizure, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Oculocerebrocutaneous Syndrome
Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:164180
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:301058
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Pachygyria, Hypoplasia of the corpus callosum, Focal-onset seizure, Cerebral white matter hypopla... OMIM:619091
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Abnormal lower motor neuron morphology, Seizure, Bilateral toni... ORPHA:2590
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the optic tract, Partial agenesis of the corpus callosum, Seizure, Primary microcep... ORPHA:500144
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure, Primary microcephaly, Ce... ORPHA:89844
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Corpus callosum atrophy, Atonic seizure, Focal-onset seizure, Cerebral atroph... ORPHA:168491
X-Linked Intellectual Disability, Hedera Type
Hypoplasia of the corpus callosum, Cerebellar atrophy, Atonic seizure, Bilateral tonic-clonic sei... ORPHA:93952
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Cerebellar at... ORPHA:529665
Cerebrooculofacioskeletal Syndrome 1
Seizure, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:214150
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Agenesis of corpus ca... ORPHA:99742
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Ag... OMIM:605013
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Seizure, Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimuati... OMIM:615286
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Microcephaly, Cerebral white matter atrophy, Bilateral tonic-clonic seizure ORPHA:369840
Subependymal Nodular Heterotopia
Focal-onset seizure, Seizure, Polymicrogyria, Focal cortical dysplasia, Limb myoclonus, Focal awa... ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar hypoplasia, Anencephaly, Seizure, ... OMIM:615287
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Agenesis of corpus callosum OMIM:600329
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Cerebellar atrophy, Myoclonus, Generalized... ORPHA:313772
Spinocerebellar Ataxia 23
Cerebellar atrophy, Agenesis of corpus callosum OMIM:610245
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal cereb... ORPHA:79264
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:612948
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Seizure, Microcephaly, Abnormal globus pallidus morphology, Ag... OMIM:618603
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:262767
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivi... ORPHA:248111
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Cerebella... ORPHA:370959
Behavioral Variant Of Frontotemporal Dementia
Abnormal cerebral white matter morphology, Bilateral tonic-clonic seizure, Frontotemporal cerebra... ORPHA:275864
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Seizure, Microcephaly, Partial agenesis of the corpus callosum OMIM:618346
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
Spinocerebellar Ataxia 48
Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:618093
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Craniotelencephalic Dysplasia
Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agenesis of corpus c... ORPHA:1528
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Bilateral tonic-clonic seizure, Seizure, Cerebellar at... ORPHA:1947
Molybdenum Cofactor Deficiency, Complementation Group C
Cerebral atrophy, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Seizure, Polymicrogyria,... OMIM:615501
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Bilateral tonic-clonic seizure ORPHA:457205
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Seizure, Microcephaly, Partial agenesis of the corpus callosum OMIM:245349
Baraitser-Winter Syndrome 2
Pachygyria, Seizure, Secondary microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Greig Cephalopolysyndactyly Syndrome
Seizure, Agenesis of corpus callosum ORPHA:380
Jaberi-Elahi Syndrome
Seizure, Microcephaly, Cerebellar atrophy, Agenesis of corpus callosum OMIM:617988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar hypoplasia, Seizure, Agyria, Micro... OMIM:615249
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Cerebellar cyst, Hypoplasia of the corpus callosum, Cerebellar vermi... ORPHA:2524
Combined Oxidative Phosphorylation Deficiency 24
Hypoplasia of the corpus callosum, Status epilepticus, Seizure, Cerebellar atrophy, Microcephaly,... OMIM:616239
Maternal Uniparental Disomy Of Chromosome X
Seizure, Microcephaly, Agenesis of corpus callosum ORPHA:261519
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Warburg Micro Syndrome 1
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hyp... OMIM:600118
Cognitive Impairment With Or Without Cerebellar Ataxia
Cognitive impairment, Dysmetria, Attention deficit hyperactivity disorder, Ataxia OMIM:614306
Craniofacial Dyssynostosis With Short Stature
Seizure, Hypoplasia of the corpus callosum, Arnold-Chiari type I malformation, Agenesis of corpus... OMIM:218350
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Bilateral tonic-clonic seizure, Seizure, Microcephaly, Decreased response t... ORPHA:457240
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Ventriculomegaly, Hypoplasia of the frontal lobes, Microceph... ORPHA:2512
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Seizure, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Hypoplasia of the corpus callosum, Small cerebral cortex, Seizure, Microcephaly, Agenesis of corp... OMIM:617360
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618577
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Masa Syndrome
Microcephaly, Agenesis of corpus callosum OMIM:303350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Abnormal cerebral white matter morphology, Cere... OMIM:618476
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, C... ORPHA:98795
Corpus Callosum Agenesis-Neuronopathy Syndrome
Seizure, Microcephaly, Agenesis of corpus callosum ORPHA:1496
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Retrocerebellar cyst, Hypopituitarism, Seizure, Agenesis of co... OMIM:603671
Bilateral Polymicrogyria
Aplasia/Hypoplasia of the cerebral white matter, Focal-onset seizure, Generalized-onset seizure, ... ORPHA:268940
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Seizure, Cerebellar atrophy, M... ORPHA:544503
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cerebellar vermis hypoplasia, Dilatio... OMIM:618606
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Lissencephaly, X-Linked, 2
Seizure, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
6Q25 Microdeletion Syndrome
Seizure, Microcephaly, Agenesis of corpus callosum ORPHA:251056
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Hypoplasia of the corpus callosum, Cerebellar... ORPHA:300570
Brain Malformations With Or Without Urinary Tract Defects
Seizure, Hypoplasia of the corpus callosum, Arnold-Chiari type I malformation, Agenesis of corpus... OMIM:613735
4Q21 Microdeletion Syndrome
Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum ORPHA:238750
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic... ORPHA:501
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum... OMIM:618736
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Linear Skin Defects With Multiple Congenital Anomalies 3
Seizure, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Secondary microcephaly, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Leukoencephalopathy OMIM:608809
X-Linked Intellectual Disability Due To Gria3 Mutations
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... ORPHA:364028
Craniosynostosis 6
Abnormal corpus callosum morphology, Cerebellar atrophy, Microcephaly, Agenesis of corpus callosu... OMIM:616602
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Bilateral tonic-clonic seizure with generalized onset OMIM:619028
Microcephaly, Amish Type
Progressive microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum OMIM:607196
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Microlissencephaly, Agenesis of corpu... OMIM:601160
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Bilateral tonic-clonic seizure, Primary microce... ORPHA:478029
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Abnormal periventricular white matter morpholog... OMIM:604360
Intellectual Developmental Disorder, Autosomal Dominant 65
Seizure, Infantile spasms, Dysgenesis of the hippocampus, Agenesis of corpus callosum OMIM:619320
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Bilateral t... ORPHA:481152
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Focal emotional seizure with laughing, Hypoplasia of the corpus ca... ORPHA:79351
Fatty Acid Hydroxylase-Associated Neurodegeneration
Hypoplasia of the corpus callosum, Focal-onset seizure, Bilateral tonic-clonic seizure, Cerebella... ORPHA:329308
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Seizure, Agenesis of corpus callosum OMIM:218000
Vici Syndrome
Cerebellar hypoplasia, Seizure, Cerebral cortical atrophy, Agenesis of corpus callosum, Hypoplasi... ORPHA:1493
X-Linked Lissencephaly With Abnormal Genitalia
Seizure, Microcephaly, Pachygyria, Agenesis of corpus callosum ORPHA:452
Microphthalmia With Brain And Digit Anomalies
Seizure, Microcephaly, Inferior vermis hypoplasia, Agenesis of corpus callosum ORPHA:139471
Greig Cephalopolysyndactyly Syndrome
Seizure, Agenesis of corpus callosum OMIM:175700
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Generalized tonic seizure, Hypoplasia of the corpus callosum, Secondary microcephaly, Bilateral t... OMIM:617193
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, P... OMIM:616819
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Seizure, Cortical d... OMIM:613001
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures ORPHA:98784
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Generalized clonic seizure, Febrile seizure (within the age r... ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Partial absence ... OMIM:613150
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypoplasia, Seizure... ORPHA:899
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Combined Oxidative Phosphorylation Deficiency 2
Agenesis of corpus callosum OMIM:610498
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Mental Retardation, Autosomal Dominant 34
Secondary microcephaly, Bilateral tonic-clonic seizure OMIM:616351
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
1Q44 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypoplasia of the corpus callosum, Seizure, Bilateral tonic-clonic seizure with generalized onset... OMIM:619076
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Cerebellar atrophy, ... OMIM:615851
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Global brain atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Seizure,... ORPHA:457351
Fumarase Deficiency
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebral atrophy, Status epilepticus, P... OMIM:606812
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Focal-onset seizure, Cerebral atrophy, Bilateral tonic-clonic seizure, Statu... OMIM:618143
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Seizure, Cerebral cortical atr... ORPHA:488627
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral atrophy, Bilateral toni... OMIM:615802
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Focal-onset seizure, Abnormal cerebral white ma... ORPHA:395
Septo-Optic Dysplasia Spectrum
Aplasia/Hypoplasia of the cerebellum, Absent septum pellucidum, Anterior pituitary hypoplasia, Se... ORPHA:3157
Ring Chromosome 22 Syndrome
Seizure, Microcephaly, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:1446
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Pachygyria, Neuronal loss in the cerebral cortex, Cerebellar hypopla... ORPHA:86822
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Optic Atrophy-Intellectual Disability Syndrome
Seizure, Hypoplasia of the corpus callosum, Abnormal hippocampus morphology, Optic nerve hypoplasia ORPHA:401777
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Microcephaly, Agenesis of corpus callosum ORPHA:261144
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Seizure, Microcephaly, Agenesis of corpus callosum OMIM:300004
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Global brain atrophy, Bila... ORPHA:480864
Chromosome 5P13 Duplication Syndrome
Seizure, Agenesis of corpus callosum OMIM:613174
Baraitser-Winter Syndrome 1
Pachygyria, Seizure, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:243310
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Primary microcephaly, Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum ORPHA:466688
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cerebellar hypoplasia, Seizure, Inferior vermis hypoplasia, Microcep... OMIM:248700
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, My... OMIM:619092
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Seizure, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly, Part... OMIM:619103
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly OMIM:614120
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Seizure, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Agenesis of corp... OMIM:182230
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Subcortical cerebral atrophy, Cerebral cortical atrophy, Status epilept... ORPHA:96147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Cerebellar hypop... OMIM:253800
Temtamy Syndrome
Seizure, Agenesis of corpus callosum OMIM:218340
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Joubert Syndrome With Renal Defect
Seizure, Polymicrogyria, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:220497
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Hypopla... ORPHA:496641
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum ORPHA:166024
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Acromelic Frontonasal Dysplasia
Retrocerebellar cyst, Hypopituitarism, Anterior pituitary hypoplasia, Seizure, Hypoplasia of the ... ORPHA:1827
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Focal myoclonic seizure OMIM:617050
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Bilateral tonic-clonic seizure... ORPHA:435638
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Atonic seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure OMIM:619059
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Cerebral dysmyelination... ORPHA:72
Ring Chromosome 21 Syndrome
Simple febrile seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Generaliz... ORPHA:1445
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Arnold-Chiari Malformation Type Ii
Seizure, Polymicrogyria, Cortical dysplasia, Abnormality of the medulla oblongata, Agenesis of co... ORPHA:1136
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Focal impaired awareness seizure, Agenesis of corpus callosum, Interhypothalami... OMIM:618929
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:618733
Nizon-Isidor Syndrome
Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:618872
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity, Cogniti... ORPHA:363400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Cerebellar vermis hypoplasia, Seizure, Polymicrogyria, Abnormality of the basal gangl... ORPHA:157
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Global brain atrophy, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Seizure, Optic ne... OMIM:301056
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, ... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Cerebellar malformation, Pachygyria, Type II lissencephaly, Hypoplas... OMIM:236670
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
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Orofaciodigital Syndrome V
Agenesis of corpus callosum OMIM:174300
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Micr... OMIM:257300
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure ORPHA:423479
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Agenesis of corpus callosum OMIM:610680
Emanuel Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Seizure, Arnold-Chiari malformation,... ORPHA:96170
Frontonasal Dysplasia 1
Lipoma of corpus callosum, Agenesis of corpus callosum OMIM:136760
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Bilateral tonic-clonic seizure OMIM:201475
Joubert Syndrome With Ocular Defect
Seizure, Polymicrogyria, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:220493
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum OMIM:612940
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Meckel Syndrome 12
Microcephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:616258
Contractures-Developmental Delay-Pierre Robin Syndrome
Focal-onset seizure, Abnormal hippocampus morphology, Arnold-Chiari type I malformation, Cerebral... ORPHA:436003
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Ventriculome... OMIM:616900
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Optic nerve hypoplasia, Arnold-Chiari malformation, Micro... OMIM:609053
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Curry-Jones Syndrome
Megalencephaly, Arnold-Chiari type I malformation, Polymicrogyria, Hemimegalencephaly, Agenesis o... OMIM:601707
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus OMIM:616716
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum OMIM:615433
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal motor seizure, Infantile spasms, Generalized myocl... ORPHA:79241
Sotos Syndrome 1
Seizure, Cavum septum pellucidum, Partial agenesis of the corpus callosum OMIM:117550
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mental Retardation, Buenos Aires Type
Microcephaly, Partial agenesis of the corpus callosum OMIM:249630
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
D-Bifunctional Protein Deficiency
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cereb... OMIM:261515
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, Simple febrile seizure, Generalized non-motor (absence) seiz... ORPHA:1942
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum OMIM:252650
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Donnai-Barrow Syndrome
Seizure, Aplasia/Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum OMIM:222448
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Melas
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Focal-onset s... ORPHA:550
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Seizure, Microcephaly, Agenesis o... OMIM:605039
Pyruvate Carboxylase Deficiency
Generalized clonic seizure, Basal ganglia gliosis, Agenesis of corpus callosum, Cerebral white ma... ORPHA:3008
Desmosterolosis
Pachygyria, Absent septum pellucidum, Status epilepticus, Seizure, Polymicrogyria, Abnormal corti... ORPHA:35107
Radio-Tartaglia Syndrome
Seizure, Microcephaly, Agenesis of corpus callosum OMIM:619312
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Agenesis of corpus callosum ORPHA:521308
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Cerebellar vermis hypoplasia, Intracerebral periventricular calcifications, Seizure, ... ORPHA:228308
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Agenesis of corpus callosum OMIM:613623
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum OMIM:619074
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Seizure, Polymicrogyria, Micro... OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Seizure, Agenesis of corpus callosum OMIM:309520
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Focal-onset seizure, Agenesis of corpus callosum, Colpocephaly, Generalized-onset seizure OMIM:618651
Vici Syndrome
Cerebellar vermis hypoplasia, Seizure, Schizencephaly, Microcephaly, Agenesis of corpus callosum OMIM:242840
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Microform Holoprosencephaly
Seizure, Panhypopituitarism, Microcephaly, Agenesis of corpus callosum ORPHA:280200
Cono-Spondylar Dysplasia
Seizure, Partial agenesis of the corpus callosum ORPHA:420794
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Seizure, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:619148
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
8P Inverted Duplication/Deletion Syndrome
Seizure, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:96092
Xp21 Deletion Syndrome
Seizure, Agenesis of corpus callosum ORPHA:261476
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Seizure... ORPHA:2177
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:247262
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Chiari Malformation Type Ii
Agenesis of corpus callosum, Arnold-Chiari malformation OMIM:207950
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Seizure, Microcephaly, Agenesis of corpus callosum, Decreased ... ORPHA:363528
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Primary microcephaly, Secondar... ORPHA:447997
Aicardi Syndrome
Cavum septum pellucidum, Pachygyria, Cerebellar vermis hypoplasia, Dilation of lateral ventricles... OMIM:304050
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Simp... OMIM:619179
16P13.11 Microdeletion Syndrome
Microcephaly, Agenesis of corpus callosum, Generalized-onset seizure ORPHA:261236
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Dilated th... ORPHA:464738
X-Linked Adrenoleukodystrophy
Dementia, Gait disturbance, Hyperactivity, Cognitive impairment, Attention deficit hyperactivity ... ORPHA:43
Genitopatellar Syndrome
Seizure, Microcephaly, Agenesis of corpus callosum ORPHA:85201
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Chromosome 6Pter-P24 Deletion Syndrome
Seizure, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity, Ment... ORPHA:35069
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Holoprosencephaly 2
Anterior pituitary agenesis, Cerebellar hypoplasia, Seizure, Microcephaly, Agenesis of corpus cal... OMIM:157170
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Progressive language deterioration OMIM:610042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum... OMIM:614643
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Seizure, Abnormal cortical gyration, Abnormal cerebel... OMIM:311200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Olivopontocerebellar hypoplasia, Seizure, Optic nerve hypoplas... ORPHA:457284
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum ORPHA:990
Hydrolethalus
Arrhinencephaly, Agenesis of corpus callosum, Anencephaly, Absent septum pellucidum ORPHA:2189
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum OMIM:109120
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 30