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Gene: Lgi1 MGI:1861691

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
leucine-rich repeat LGI family, member 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Lgi1 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 Lgi1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046

The table below shows human diseases predicted to be associated to Lgi1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
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
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizur... OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Small for gestational age, Continuous spike and waves during slow... OMIM:245570
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... OMIM:611726
Continuous Spikes And Waves During Sleep
Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:725
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Bilateral tonic-clonic seizure, Short stature, Postnatal growth retardation, ... OMIM:608278
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
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
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, EEG abnormality OMIM:617643
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Phosphoserine Phosphatase Deficiency
Seizure, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
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
Hemimegalencephaly
Hemimegalencephaly, Focal tonic seizure, Myoclonus, Gliosis, Focal motor seizure, EEG with focal ... ORPHA:99802
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Short stature, Myoclonic seizure, Multifocal epileptiform discharges, Abnormal cerebral white mat... OMIM:618596
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Seizure, Hydrocephal... OMIM:225790
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... OMIM:601068
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Focal myoclonic s... ORPHA:98818
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... ORPHA:101070
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
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Se... OMIM:619157
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Falls, Chin myoclonus, Generalized... ORPHA:139426
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:36387
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... ORPHA:2382
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Cerebellar edema, Seizure, Clonic seizur... OMIM:618924
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Autosomal Dominant Non-Syndromic Intellectual Disability
Short stature, Focal impaired awareness seizure, Leukoencephalopathy, Seizure, Bilateral generali... ORPHA:178469
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, S... ORPHA:330050
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ab... ORPHA:101039
Familial Focal Epilepsy With Variable Foci
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Infan... ORPHA:98820
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Inability to wa... OMIM:617810
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Seizure, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callos... ORPHA:79243
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Interictal epileptiform activity, EEG with spike-wave complexes, ... OMIM:254800
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebellar atrophy, Febrile seizure (within the age range of 3 ... ORPHA:263516
Huntington Disease
Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Seizure, Gait... OMIM:143100
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Dysgenesis of the basal ganglia, Absent septum pellucid... ORPHA:101685
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Early onset absence... ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Growth delay, Atrophy/Degeneration affecting the brainstem, Myoclonus, Gliosi... OMIM:614946
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Gliosis, Myoclonus, Loss of Purkinje cells in the cerebellar vermis, Seiz... OMIM:225753
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Gait imbalance, Intrauterine growth retardation, Bilateral tonic-clonic seizu... ORPHA:488635
New-Onset Refractory Status Epilepticus
Cerebellar edema, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Focal impaire... ORPHA:363558
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... OMIM:619317
Bilateral Generalized Polymicrogyria
Short stature, Focal-onset seizure, Oral-pharyngeal dysphagia, Oculogyric crisis, Generalized ton... ORPHA:208447
Atypical Juvenile Parkinsonism
Dystonia, Myoclonus, Shuffling gait, Bradykinesia, Seizure, Inability to walk, Brain atrophy, Sho... ORPHA:391411
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Leukoencephalopathy, Ataxia, Difficulty walking, Generalized non-motor (absence) se... OMIM:618242
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Ataxia, EEG abnormality, G... OMIM:617836
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Cerebellar atrophy, Torticollis, Gliosis, Cerebral atrophy, Gait ataxia OMIM:618369
Spinocerebellar Ataxia 17
Dystonia, Dysphagia, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Myoc... OMIM:607136
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Hypoplasia of the corpus callosum, Atypic... OMIM:617771
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Gliosis, Neuronal loss in t... ORPHA:168486
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Seizure, Hyperactivity, Ataxia, Status epilep... OMIM:271980
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Ataxia, EEG abnormality, Cerebral atrophy, Generalized myo... OMIM:610951
Lissencephaly Type Iii And Bone Dysplasia
Central nervous system degeneration, Microlissencephaly, Agenesis of cerebellar vermis, Neuronal ... OMIM:601160
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Myocloni... OMIM:615744
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Interictal epileptiform activity, Global brain atrophy, F... ORPHA:1929
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Falls, Bradykinesia, Impair... OMIM:300423
Dravet Syndrome
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:33069
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Status epilepticus, Hypoplasia of the corpus ca... OMIM:614959
Familial Infantile Myoclonic Epilepsy
Gait disturbance, Simple febrile seizure, Cerebellar atrophy, Limb myoclonus, EEG with focal spik... ORPHA:352582
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure OMIM:619639
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Dysphagia, Limb myoclonus, Typical absence seizure, Myoclonus, Seiz... ORPHA:2590
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Global brain atrophy, Myoclonus, Multifocal ep... OMIM:609056
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Seizure, Pachygyria, Bilater... OMIM:618730
Pontocerebellar Hypoplasia, Type 14
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Myoclonic sei... OMIM:619301
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Atypical absence seizure, Polymicrogyria, Bilateral tonic-clonic seizure OMIM:300388
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal tonic seizure, Myoclonus, Focal impaired ... ORPHA:485350
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Late Infantile Neuronal Ceroid Lipofuscinosis
Seizure, Corpus callosum atrophy, Cerebral atrophy, Focal-onset seizure, EEG with spike-wave comp... ORPHA:168491
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... OMIM:609446
Pontocerebellar Hypoplasia, Type 15
Dystonia, Partial agenesis of the corpus callosum, Infantile spasms, Bilateral tonic-clonic seizu... OMIM:619302
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:163721
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Inability to walk, Status epilepticus, Bilateral tonic-clonic ... OMIM:616645
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Hypoplasia of the pons, Myoclonus, Focal impaired awareness seizure, Hypsarrhyt... ORPHA:411986
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sm... ORPHA:289266
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonus, Seizure, Ataxia, Atonic seizure, Difficulty w... OMIM:614018
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Failure to thrive, Secondary microcephaly, Hypoplasia of the corp... OMIM:616281
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Focal impaired awareness seizur... ORPHA:65683
Developmental And Epileptic Encephalopathy 28
Hypokinesia, Seizure, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the corpus callos... OMIM:616211
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Dysphagia, Cerebellar atrophy, Neurodegeneration, Seizure, Ataxia, Cerebral atrophy, De... OMIM:617672
Developmental And Epileptic Encephalopathy 18
Thick corpus callosum, Generalized-onset seizure, EEG abnormality, Focal-onset seizure, Generaliz... OMIM:615476
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Spinocerebellar Ataxia 48
Dystonia, Dysphagia, Cerebellar atrophy, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Ata... OMIM:618093
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Gliosis, EEG abnormality, Lethargy OMIM:613002
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Periventr... OMIM:619616
Microlissencephaly
Cerebellar atrophy, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Microcephaly,... ORPHA:1083
Huntington Disease-Like 1
Gait disturbance, Cerebellar atrophy, Dysmetria, Weight loss, Gliosis, Bradykinesia, Hypokinesia,... ORPHA:157941
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, At... ORPHA:313772
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Generalized-onset seizure, Generalized non-motor (absenc... ORPHA:79137
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Dysphagia, Torticollis, Myoclonus, Bradykinesia, Hypokinesia, Seizure... OMIM:606693
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance, Hypsarrhythmia, Seizure, EEG abnormality, Generalized myoclonic seiz... OMIM:618141
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Toni... OMIM:618917
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure... ORPHA:208441
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalop... OMIM:615889
Infantile Cerebellar-Retinal Degeneration
Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Failure to thrive, Abnormal cerebr... OMIM:614559
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Neuronal loss in central nervous system, Gliosis, Multifocal seizures, Seizure,... OMIM:614498
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Failure to thrive, Gliosis, Joint contracture of the hand, Arthrogrypo... OMIM:214150
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, EEG with generalized epileptiform ... ORPHA:1947
Combined Oxidative Phosphorylation Deficiency 6
Seizure, Increased connective tissue, Abnormality of the basal ganglia, Hypokinesia OMIM:300816
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Short stature, Cerebral white matter atrophy, Seizure, ... ORPHA:464282
Myoclonic-Astatic Epilepsy
Simple febrile seizure, EEG with focal spike waves, Interictal epileptiform activity, Generalized... ORPHA:1942
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Caudate atrophy, Myoclonus, Leukoencephalopathy, Gliosis, Seizure, EEG abnormal... OMIM:221770
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Corticobasal Syndrome
Dystonia, Gait disturbance, Limb myoclonus, Myoclonus, Bradykinesia, Akinesia, Limb dystonia ORPHA:454887
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis, Seizure, Hypoplasia of the corpus callosum, Microcephaly OMIM:612936
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Small for gestational age, Cerebral calcification, Failure to thrive, Leukoencephal... OMIM:619147
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Difficu... ORPHA:98764
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Foxg1 Syndrome
Dystonia, Agenesis of corpus callosum, Severe postnatal growth retardation, Bilateral tonic-cloni... ORPHA:561854
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Decrease... OMIM:256600
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Sp... OMIM:614487
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, EEG with generalized epileptiform discharges, Generaliz... ORPHA:35878
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Myoclonus, Gliosis, Seizure, Cerebral atrophy OMIM:604218
Huntington Disease
Dystonia, Gait disturbance, Gait imbalance, Polyphagia, Caudate atrophy, Decreased body mass inde... ORPHA:399
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Short stature, Myoclonus,... OMIM:619065
Pontocerebellar Hypoplasia, Type 2A
Hypoplasia of the pons, Gliosis, Seizure, Microcephaly, Progressive microcephaly, Cerebellar hypo... OMIM:277470
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:601764
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Short stature, Gliosis, Increased body mass index, T... OMIM:300957
Severe Canavan Disease
Megalencephaly, Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Seizure, Inability... ORPHA:314911
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Short stature, Seizure, Hyperactivity, Hydrocephalus, Generalized... OMIM:300558
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Bilateral tonic-clonic seizure, Joint contractures involving the joints of the feet, De... ORPHA:457205
Liang-Wang Syndrome
Dystonia, Cerebellar atrophy, Ataxia, Status epilepticus, Cerebral atrophy, Generalized non-motor... OMIM:618729
Diaminopentanuria
Seizure, Ataxia, Neurodegeneration OMIM:222350
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Myoclonus, Gliosis, Hypsarrhythmia, Astrocytosis, Ataxia... ORPHA:204
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Posterior predominant thick cortex pachygyria, Agyria,... ORPHA:95232
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity dis... OMIM:619191
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Ataxia, Eyelid myoclonus, Cerebellar hypoplasia, Cerebral atrophy, Secondary microcephaly, Genera... OMIM:613839
Paroxysmal Exertion-Induced Dyskinesia
Dystonia, Seizure, Ataxia, Torsion dystonia, Generalized non-motor (absence) seizure ORPHA:98811
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, EEG with occipital... OMIM:619428
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Postencephalitic Parkinsonism
Dysphagia, Diminished movement, Abnormal substantia nigra morphology, Bradykinesia, Seizure, Akin... ORPHA:97349
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Bilateral tonic-clonic seizure, Short stature, Cerebellar dysplasia, Gliosis, S... ORPHA:457240
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Gliosis, Ataxia, Cerebellar hypoplasia, Unsteady gait, Limb ataxia, Gai... OMIM:213200
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Dystonia, Ataxia, Bilateral tonic-clonic seizure OMIM:618425
Combined Oxidative Phosphorylation Deficiency 1
Intrauterine growth retardation, Global brain atrophy, Hypokinesia, Seizure, Basal ganglia cysts,... OMIM:609060
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Seizure, Status epilepticus, EEG a... ORPHA:529665
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Global brain atrophy, Gliosis, Leukoencephalopathy, Seizure, Corpus callosum ... OMIM:236792
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure OMIM:104290
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617924
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Gene... ORPHA:1934
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Inability to wal... ORPHA:93952
Segawa Syndrome, Autosomal Recessive
Myoclonus, Limb dystonia, Gait ataxia, Hypokinesia OMIM:605407
Developmental And Epileptic Encephalopathy 52
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Seizure,... OMIM:617350
Myoclonic-Atonic Epilepsy
Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Intrauterine growth retardation, Small for gestational age, Gliosis, Arthrogr... OMIM:615095
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Gait ataxia, Cerebellar vermis atrophy, Akinesia ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Neurodegeneration, Bradykinesia, Seizure, Cerebral atrophy OMIM:300894
Lafora Disease
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Giant somatosensory evoked poten... ORPHA:501
Spinocerebellar Ataxia Type 12
Gait disturbance, Cerebellar atrophy, Bradykinesia, Limb dysmetria, Hypokinesia, Ataxia, Cerebral... ORPHA:98762
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:611634
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Large basal ganglia, Cortical dysplasia, EEG wi... ORPHA:88616
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Degeneration of the striatum, Bradykinesia, Hypokinesia, Dysdiadochokinesis, Sy... OMIM:609161
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with burst suppression, Status epilepticus, H... OMIM:612164
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Gait imbalance, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure... ORPHA:98795
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure, Astrocytosis, EEG with continuous slow activity... ORPHA:275864
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Gliosis, Seizure, Periventricular leukomalacia, Microcephaly ORPHA:357225
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure... OMIM:618856
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Leukoencephalopathy, Shuffling gait, Bradykines... OMIM:221820
Satb2-Associated Syndrome Due To A Pathogenic Variant
Dysphagia, Typical absence seizure, Growth delay, Seizure, Postnatal growth retardation, Abnormal... ORPHA:576283
Brain Small Vessel Disease 2
Growth delay, Bilateral tonic-clonic seizure, Schizencephaly, Porencephalic cyst, Polymicrogyria,... OMIM:614483
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Seizure,... OMIM:616239
Spinocerebellar Ataxia 21
Dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Ataxia, Akinesia, Limb ataxia, Gait ... OMIM:607454
Gaucher Disease, Perinatal Lethal
Dysphagia, Intrauterine growth retardation, Neonatal death, Arthrogryposis multiplex congenita, H... OMIM:608013
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Cerebellar atrophy, Myoclonic spasms, Bilateral tonic-clonic seizure, Focal T2 hyperin... ORPHA:79264
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brainstem, Neurodegen... OMIM:612319
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Abnormal periventricular white matter morphology, Bilateral tonic-clonic seizur... ORPHA:395
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent lip... ORPHA:79263
Hereditary Late-Onset Parkinson Disease
Dystonia, Dysphagia, Weight loss, Gliosis, Shuffling gait, Bradykinesia, Lewy bodies, Akinesia, C... ORPHA:411602
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Falls, Loss of ability to walk, Freezing of gait, Short stepped shuffling gait, A... ORPHA:240094
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure, Hypokinesia OMIM:249650
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Infantile spasms, Bilateral tonic-clonic seizure, Colpocephaly, Seizu... ORPHA:250972
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Gliosis, Leukoencephalopathy, Seizure, Unsteady gait, Cessation of head growth,... OMIM:603896
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Bilateral tonic-clonic seizure, Failure to thrive, EEG with generalized epileptifor... ORPHA:488613
Lissencephaly, X-Linked, 1
Seizure, Ataxia, Pachygyria, Postnatal growth retardation, Agyria, Lissencephaly, Agenesis of cor... OMIM:300067
Dpagt1-Cdg
Failure to thrive, Global brain atrophy, Lipodystrophy, Focal motor seizure, Hypsarrhythmia, EEG ... ORPHA:86309
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Convulsive status epilepticus, Inability to walk, EEG abnormality, Focal-onset seizure,... OMIM:618760
Dk1-Cdg
Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Short stature, Hypsarrhythmi... ORPHA:91131
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmia, EEG with burst ... OMIM:301058
Autosomal Dominant Cerebellar Ataxia
Gait disturbance, Dystonia, Pseudobulbar paralysis, Torticollis, Myoclonus, Laryngeal dystonia, S... ORPHA:99
Kohlschutter-Tonz Syndrome-Like
Global brain atrophy, Seizure, Focal-onset seizure, Decreased body weight, Generalized tonic seiz... OMIM:619229
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:607876
Supranuclear Palsy, Progressive, 1
Dysphagia, Neuronal loss in basal ganglia, Gait imbalance, Axial dystonia, Neuronal loss in centr... OMIM:601104
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Abnormal eating behavior, Eating-induced seizure, Ataxia, Generalized-onset sei... ORPHA:544254
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Growth delay, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting ... OMIM:617193
Congenital Disorder Of Glycosylation, Type Iu
Cerebral white matter atrophy, Hypokinesia, Seizure, Cerebellar hypoplasia, Secondary microcephal... OMIM:615042
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clo... ORPHA:544503
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Periventricular wh... ORPHA:228360
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Short stature, Akinesia OMIM:618822
Harel-Yoon Syndrome
Ataxia, Inability to walk, Cerebellar atrophy, Generalized non-motor (absence) seizure OMIM:617183
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Fetal Akinesia Deformation Sequence
Dandy-Walker malformation, Intrauterine growth retardation, Arthrogryposis multiplex congenita, H... ORPHA:994
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Gliosis, Seizu... OMIM:301790
Supranuclear Palsy, Progressive, 2
Dysphagia, Neuronal loss in basal ganglia, Gait imbalance, Axial dystonia, Neuronal loss in centr... OMIM:609454
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, H... ORPHA:382
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Gliosis, Absent brainstem auditory responses, Seizure, Cerebellar hypoplasia, Diffu... ORPHA:3240
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Neurodegeneration, Gliosis, Abnormal cerebral white matter morphology, Seizure, Ataxia,... OMIM:618321
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Bilateral tonic-clonic seizure, Infantile spasms, Global brain... ORPHA:457351
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Abnormal cortical gyration, Intrauterine growth retardation, Bilateral tonic-clonic se... ORPHA:79351
Autosomal Recessive Dopa-Responsive Dystonia
Myoclonus, Bradykinesia, Focal dystonia, Hypokinesia, Ataxia, Limb dystonia, Generalized dystonia... ORPHA:101150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Limb myoclonus, Diminished movement, Focal dystonia, Bradykinesia ORPHA:240103
Fatty Acid Hydroxylase-Associated Neurodegeneration
Dysphagia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Loss of ambulation, Falls, Progres... ORPHA:329308
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Akinesia, Neuromuscular dysphagia,... ORPHA:240071
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Short stature, Neurodegeneration, Congenital diaphragmatic hernia, Absent pub... ORPHA:438134
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Akinesia OMIM:619334
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysphagia, Shuffling gait, Ataxia, Dysdiadochokinesis, Akinesia, Gait ataxia, Cerebellar cortical... ORPHA:247234
Leigh Syndrome
Dystonia, Focal substantia nigra T2 hyperintensity, Failure to thrive, Gliosis, Seizure, Ataxia OMIM:256000
Aceruloplasminemia
Dystonia, Abnormal corpus striatum morphology, Torticollis, Ataxia, Craniofacial dystonia, Abnorm... ORPHA:48818
Myopathy, Congenital, Compton-North
Camptodactyly, Joint contracture of the hand, Small for gestational age, Akinesia OMIM:612540
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Hypokinesia OMIM:618184
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Central nervous system degeneration, Short stature, Failure to thrive, Neuronal loss in central n... OMIM:602613
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Krabbe Disease
Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Seizure, Hydrocephalus... OMIM:245200
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Dysphagia, Myoclonus, Shuffling gait, Bradykinesia, Lewy bodies, Hypo... OMIM:168601
Filippi Syndrome
Dystonia, Cerebellar atrophy, Intrauterine growth retardation, Seizure, Postnatal growth retardat... OMIM:272440
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Hypokinesia, Seizure, Inability to walk, Generalized dy... ORPHA:255
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Focal-onset seizure, Microcephaly ORPHA:726
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Obesity, Attention deficit hy... ORPHA:777
Perry Syndrome
Dystonia, Weight loss, Bradykinesia, Short stepped shuffling gait, Akinesia OMIM:168605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Abnormal periventricular white matter morphology, Generalized non-motor (absence) seizure OMIM:618992
Manganese Poisoning
Dystonia, Gait disturbance, Abnormal globus pallidus morphology, Bradykinesia, Akinesia ORPHA:306682
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Nicolaides-Baraitser Syndrome
Hernia, Severe short stature, Seizure, Status epilepticus, Epileptic spasm, Generalized non-motor... ORPHA:3051
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Failure to thrive, Bulimia, Hyps... OMIM:300912
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Neuronal loss in central nervous system, Myoclonus, Gliosi... OMIM:203700
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Waddling gait, Truncal ataxia, Dif... ORPHA:369840
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Bilateral Polymicrogyria
Cerebellar atrophy, Perisylvian polymicrogyria, Bilateral tonic-clonic seizure, Cerebellar ataxia... ORPHA:268940
Angelman Syndrome
Dysphagia, Bilateral tonic-clonic seizure, Infantile spasms, Polyphagia, Myoclonus, Seizure, Hype... ORPHA:72
Cog7-Cdg
Cerebellar atrophy, Small for gestational age, Failure to thrive, Subcortical cerebral atrophy, P... ORPHA:79333
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis, Polyphagia OMIM:172700
Parkinson Disease 17
Bradykinesia, Akinesia OMIM:614203
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Impaired tandem gait, Ataxia, Bilateral tonic-clonic se... OMIM:619028
Alg11-Cdg
Failure to thrive, Cerebral white matter atrophy, Hypokinesia, Seizure, Ataxia, Abnormal cerebral... ORPHA:280071
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Autosomal Dominant Spastic Paraplegia Type 6
Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Dysphagia, Hypokinesia, Seizure, Pachygyria, Inability to walk, Cerebral... ORPHA:258
Adducted Thumbs Syndrome
Dysphagia, Myelin-dependent gliosis, Arthrogryposis multiplex congenita, Cerebral dysmyelination,... OMIM:201550
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth, Hypokinesia OMIM:300073
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Seizure, Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epile... OMIM:610539
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Agenesis of corpus callosum, Growth delay, Failure to th... ORPHA:96147
Kleefstra Syndrome Due To A Point Mutation
Short stature, Failure to thrive, Gliosis, Inguinal hernia, Large for gestational age, Seizure, C... ORPHA:261652
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Paroxysmal dystonia, Cerebellar cyst, Dysplastic corpus callosum, Inf... ORPHA:2524
Dpm1-Cdg
Hypoplasia of the frontal lobes, Pontocerebellar atrophy, Cerebellar atrophy, Failure to thrive, ... ORPHA:79322
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Multifocal seizures, Cere... ORPHA:77299
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Dysphagia, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Abnormal corpus striatum morphology, Hypokinesia ORPHA:238329
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Cerebral atrophy OMIM:618770
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Short stature, Failure to thrive, Gliosis, Ataxia, Inability to walk, Macrogyria, ... ORPHA:280210
Hyperprolinemia Type 2
Dysphagia, Febrile seizure (within the age range of 3 months to 6 years), Early onset absence sei... ORPHA:79101
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis, Microcephaly OMIM:615119
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Deep cerebral white matter hyperintensities, Bilateral tonic-clonic seizure, Ps... ORPHA:199354
Hsd10 Disease
Gait disturbance, Dysphagia, Myoclonus, Seizure, Ataxia, Focal white matter lesions, Postnatal gr... ORPHA:391417
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Gliosis, Axonal degeneration, Degeneration of anterior horn cells OMIM:604484
Developmental And Epileptic Encephalopathy 95
Gait disturbance, Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Mul... OMIM:618143
Parkinson Disease 23, Autosomal Recessive Early-Onset
Lewy bodies, Akinesia, Neurofibrillary tangles, Cerebral cortical atrophy, Limb dystonia OMIM:616840
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oropharyngeal swallow response, Cerebral atrophy, Lingual dystonia, Corneal scarring, Fo... ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Agenesis of corpus callosum, Small for gestational age, Hypokinesia OMIM:610498
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Short stature, Failure t... OMIM:615802
Myoclonic Epilepsy Of Lafora
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Myoclonus, Bilateral tonic-cloni... OMIM:254780
Tay-Sachs Disease
Gait disturbance, Dystonia, Cerebellar atrophy, Dysphagia, Typical absence seizure, Hypointensity... ORPHA:845
Frontotemporal Dementia With Motor Neuron Disease
Dysphagia, Degeneration of the lateral corticospinal tracts, Global brain atrophy, Gliosis, Neuro... ORPHA:275872
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesia, At... OMIM:615157
Muscular Hypertonia, Lethal
Umbilical hernia, Hypokinesia OMIM:254120
Leigh Syndrome
Neuronal loss in basal ganglia, Focal T2 hyperintense basal ganglia lesion, Encephalomalacia, Sei... ORPHA:506
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Cntnap2-Related Developmental And Epileptic Encephalopathy
Interictal epileptiform activity, EEG with generalized epileptiform discharges, EEG with generali... ORPHA:163681
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Flexion contracture, Akinesia OMIM:253290
Molybdenum Cofactor Deficiency, Complementation Group C
Bilateral tonic-clonic seizure, Hypoplasia of the pons, Seizure, Generalized-onset seizure, Polym... OMIM:615501
Lissencephaly, X-Linked, 2
Gliosis, Seizure, Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:300215
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Gliosis, Diffuse leukoencephalopathy, Ataxia, Corpus callosum atrophy, Ab... OMIM:169500
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impai... OMIM:619580
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure, Global brain atrophy, Diffuse cerebellar atroph... ORPHA:478029
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Seizure, Ataxia, Gliosis, Failure to thrive OMIM:220111
Machado-Joseph Disease
Dystonia, Dysphagia, Cerebellar atrophy, Dilated fourth ventricle, Gliosis, Bradykinesia, Progres... OMIM:109150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Cerebral atrophy OMIM:105550
Mental Retardation, X-Linked, Syndromic 12
Seizure, Postnatal growth retardation OMIM:309545
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Cerebral edema, Gliosis OMIM:608033
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Cerebral degeneration, Dysphagia, Global brain atrophy, Neurodegenera... OMIM:234200
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Gliosis OMIM:125700
Progressive Supranuclear Palsy
Dystonia, Dysphagia, Neuronal loss in central nervous system, Gliosis, Falls, Bradykinesia, Unste... ORPHA:683
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Gait disturbance, Neurodegeneration, Oromandibular dystonia, Bradykinesia, Tip-toe gait... OMIM:615643
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Paroxysmal dystonia, Bilateral tonic-clonic seizure, N... ORPHA:98784
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Short stature, Neurodegeneration, Seizur... ORPHA:309246
Ring Chromosome 21 Syndrome
Gait disturbance, Short stature, Holoprosencephaly, Seizure, Bilateral tonic-clonic seizure with ... ORPHA:1445
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Bradykinesia, Lewy bodies,... OMIM:610217
Arthrogryposis Multiplex Congenita 5
Dystonia, Intrauterine growth retardation, Growth delay, Elbow flexion contracture, Arthrogryposi... OMIM:618947
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Dysphagia, Tonic seizure, Seizure, Ataxia, Inability to walk, Status epilepticus, Decreased body ... OMIM:300260
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agenes... ORPHA:99742
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Bilateral tonic-clonic seizure, Failure to thrive, Leukoencephalopathy, Corpus callosu... OMIM:608809
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Dysphagia, Bilateral tonic-clonic seizure, Infantile spasms, Global brain atrophy, Foca... ORPHA:480864
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Dysphagia, Multifocal cerebral white matter abnormalities, Gait imbalance, Dysp... ORPHA:488627
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Gliosis, Seizure, Abnormal putamen morphology, Cerebral edema, Abnormality of t... ORPHA:88619
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Knee flexion contracture, Attentio... ORPHA:435638
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Failure to thrive, Global brain atro... ORPHA:481152
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Short stature, Myoclonus, Slender build, Seizure, Cerebellar verm... ORPHA:364028
Intermediate Nemaline Myopathy
Dysphagia, Arthrogryposis multiplex congenita, Hypokinesia, Flexion contracture, Difficulty walking ORPHA:171433
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Seizure, Ataxia, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral white... OMIM:618476
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Cerebral white matter hypoplasia, Myoclonic seizure, Pachygyria, Bilateral tonic-clonic seizure w... OMIM:619091
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Dysphagia, Febrile seizure (within the age range of 3 months to 6 years), Cerebellar at... ORPHA:496641
Hyperekplexia 1
Nocturnal seizures, Myoclonus, Inguinal hernia, Hypokinesia, Seizure, Umbilical hernia OMIM:149400
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Infantile spasms, Tonic seizure, Failure to thrive, Short stature, Myoclonic ... OMIM:615851
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Cerebellar atrophy, Abnormality of peripheral nerve conduction, Cereb... ORPHA:35069
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Myoclonic seizure, Hypsarrhythmia, Seizure, Brain atrophy, Bilateral tonic-clonic seizure with ge... OMIM:619076
Ritscher-Schinzel Syndrome 4
Athetosis, Dandy-Walker malformation, Dysphagia, Dysgenesis of the hippocampus, Bilateral tonic-c... OMIM:619435
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Febrile seizure (within the age range of 3 months to 6 years), B... ORPHA:42
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Failure to thrive, Gliosis, Decreased nerve c... OMIM:261515
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Mild short stature, Seizure, Umbilical hernia OMIM:169400
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Severe short stature, Cerebellar vermis hypoplasia, Thin corpus c... OMIM:600092
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dystonia, Dandy-Walker malformation, Dysplastic corpus callosum, Intrauterine growth r... ORPHA:357058
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Brai... OMIM:619092
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Dystonia, Dysphagia, Neurodegeneration, Loss of ability to walk,... ORPHA:391428
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Intrauterine growth retardation, Generalized non-motor (absence) seizure, Abnormal... ORPHA:363686
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles, Small for gestational age, Bilateral tonic-clonic s... OMIM:619278
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Neurofibrillary tangles, Neuronal loss in central nervous system, Gliosis, Lewy bodie... OMIM:607485
Hermansky-Pudlak Syndrome 10
Dystonia, Bilateral tonic-clonic seizure, EEG abnormality, Cerebral atrophy, Focal myoclonic seiz... OMIM:617050
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Dysphagia, Hypokinesia OMIM:614707
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Neuronal loss in central nervous system, Gliosis, Hypsarrhythmia, Absen... OMIM:300868
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Cerebellar atrophy, Abnormal auditory evoked potentials, Abnormal mot... ORPHA:909
Ataxia-Telangiectasia-Like Disorder 2
Dysphagia, Cerebellar atrophy, Short stature, Neurodegeneration, Ataxia, Flexion contracture, Uns... OMIM:615919
Infantile Convulsions And Choreoathetosis
Athetosis, Dystonia, Normal interictal EEG, Focal impaired awareness seizure, Complex febrile sei... ORPHA:31709
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Global brain atrophy, EEG with spike-wave com... ORPHA:369837
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Bilateral tonic-clonic seizure, Polydipsia, Focal impaired awareness seizure, Seizure,... ORPHA:369929
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Abnormal pons morphology, Bilateral tonic-cl... ORPHA:79139
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Dysphagia, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, Pr... ORPHA:447997
Mosaic Variegated Aneuploidy Syndrome 1
Dandy-Walker malformation, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Small... OMIM:257300
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Myoclonic seizure, Brain atrophy, Bilateral tonic-clonic seizure with generalized ... OMIM:619059
Molybdenum Cofactor Deficiency, Complementation Group B
Myoclonic spasms, Growth delay, Gliosis, Seizure, Cerebral atrophy, Hypoplasia of the corpus call... OMIM:252160
German Syndrome
Arthrogryposis multiplex congenita, Hypokinesia OMIM:231080
Rhizomelic Chondrodysplasia Punctata, Type 5
Growth delay, Short stature, Seizure, Convulsive status epilepticus, Contractures of the large jo... OMIM:616716
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Hypokinesia OMIM:619063
1Q44 Microdeletion Syndrome
Growth delay, Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Agenesis of corpus ca... ORPHA:238769
German Syndrome
Dysphagia, Short stature, Arthrogryposis multiplex congenita, Hypokinesia, Camptodactyly of finger ORPHA:2077
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Growth delay, Gliosis, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Ing... OMIM:248500
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration, Abnormal cerebral morphology, Seizure, Hy... ORPHA:447788
Melas
Gait disturbance, Bilateral tonic-clonic seizure, Short stature, Failure to thrive, Myoclonus, Se... ORPHA:550
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Secondary microcephaly, Broad-based gait OMIM:616351
Spastic Paraplegia 79, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Neurodegeneration, Ataxia, Flexion contracture, Cerebral atrophy OMIM:615491
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Bilateral tonic-clonic seizure OMIM:619356
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Short stature, Posterior pituitary... ORPHA:268261
Kinsship Syndrome
Dandy-Walker malformation, Bilateral tonic-clonic seizure, Short stature, Failure to thrive, Myoc... OMIM:619297
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Knee flexi... OMIM:618733
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pineal cyst, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cloni... ORPHA:513456
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Short stature, Bilateral tonic-clonic seizure, Severe failure to... ORPHA:423479
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis, Seizure, Camptodactyly, Hypoplasia of the corpus callosum, Inguinal h... OMIM:617403
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure, Tonic seizure, Failure t... OMIM:619512
Cockayne Syndrome
Progressive gait ataxia, Seizure, Postnatal growth retardation, Cerebral atrophy, Basal ganglia c... ORPHA:191
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Decreased nerve conduction velocity, Degeneration of anterior horn cells OMIM:118301
Adrenoleukodystrophy
Neurodegeneration, Seizure, Truncal ataxia, Abnormal cerebral white matter morphology, Attention ... OMIM:300100
Molybdenum Cofactor Deficiency, Complementation Group A
Myoclonic spasms, Growth delay, Gliosis, Seizure, Cerebral atrophy, Hypoplasia of the corpus call... OMIM:252150
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Dysphagia, Cavitation of the basal ganglia, Writer's cramp, Neurodegeneration, Bradykin... OMIM:606159
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Diminished movement, Myoclonus, Limb dystonia, Oculogyric crisis, Blephar... OMIM:608643
Infantile Dystonia-Parkinsonism
Dystonia, Oculogyric crisis, Bradykinesia, Hypokinesia ORPHA:238455
Developmental And Epileptic Encephalopathy 89
Dystonia, Omphalocele, Cerebellar atrophy, Myoclonic seizure, Neonatal death, Hypsarrhythmia, EEG... OMIM:619124
Multiple Acyl-Coa Dehydrogenase Deficiency
Seizure, Inability to walk, Gliosis, Dysphagia ORPHA:26791
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Dysphagia, Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Focal T... ORPHA:255210
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Dysphagia, Cerebellar atrophy, Failure to thrive, Bradykinesia, Hypokinesia, Se... ORPHA:254892
Hyperphosphatasia-Intellectual Disability Syndrome
Gait disturbance, Growth delay, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Ataxia, EEG w... ORPHA:247262
Diets-Jongmans Syndrome
Short stature, Congenital diaphragmatic hernia, Gliosis, Thick corpus callosum, Inguinal hernia, ... OMIM:618846
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Increased theta frequency activity in EEG, Febrile seizure (within the age range of 3 months to 6... ORPHA:459070
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dysphagia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:466943
African Trypanosomiasis
Abnormal prolactin level, Gait disturbance, Weight loss, Abnormal cerebral white matter morpholog... ORPHA:3385
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Bilateral tonic-clonic seizure, Lethargy OMIM:201475
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Small for gestational age, Hypokinesia OMIM:613320
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Elevated circulating follicle stim... ORPHA:3044
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Growth delay, Bilateral tonic-clonic seizure, Failure to thrive, Focal T2 hyp... OMIM:252010
Gm2-Gangliosidosis, Ab Variant
Seizure, Dystonia, Neurodegeneration, Cerebral atrophy OMIM:272750
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Failure to thrive, Contractures ... ORPHA:99885
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Diffuse white matter abnormalities, Megalencephaly, Bilateral tonic-... ORPHA:457359
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Flexion contracture, Hypokinesia OMIM:310400
Severe Congenital Nemaline Myopathy
Dysphagia, Arthrogryposis multiplex congenita, Hypokinesia, Flexion contracture, Increased connec... ORPHA:171430
Biotinidase Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, Ataxia, Generaliz... ORPHA:79241
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Generalized non-motor (... ORPHA:293978
Alternating Hemiplegia Of Childhood
Dystonia, Dysphagia, Bilateral tonic-clonic seizure, Failure to thrive, Focal motor seizure, Seiz... ORPHA:2131
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Dysphagia, Typical absence seizure, Bilateral tonic-clonic seizure, Truncal obesity, Simple febri... ORPHA:466950
Mucopolysaccharidosis, Type Ii
Short stature, Neurodegeneration, Mild short stature, Inguinal hernia, Severe short stature, Seiz... OMIM:309900
Choreoacanthocytosis
Oromandibular dystonia, Seizure, Frontal cortical atrophy, Abnormal hippocampus morphology, Lingu... ORPHA:2388
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait disturbance, Neurodegeneration, Seizure, Ataxia, Cerebral atrophy, Oral-pharyngeal... OMIM:616878
Papillorenal Syndrome
Seizure, Gliosis OMIM:120330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Chiari malformation, Dysplastic corpus callosum, Failure to thrive in infancy, Intraut... ORPHA:500150
Craniopharyngioma
Enlarged pituitary gland, Growth delay, Polyphagia, Cerebral calcification, Abnormal hypothalamus... ORPHA:54595
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Elbow flexion contracture, Knee ... ORPHA:2920
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Intrauterine growth retardation, Growth delay, Infantile spasms, Bilateral tonic-clonic seizure, ... OMIM:301044
W Syndrome
Bilateral tonic-clonic seizure, Camptodactyly ORPHA:2804
Typical Nemaline Myopathy
Gait disturbance, Arthrogryposis multiplex congenita, Hypokinesia, Waddling gait, Flexion contrac... ORPHA:171436
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Gait disturbance, Arm dystonia, Neurodegeneration, Iron accumulation in glob... ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Gait disturbance, Cerebellar atrophy, Neurodegeneration, Oromandibular dystonia, Lewy b... OMIM:614298
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Neonatal death, Gliosis OMIM:231680
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal T2 hyperintense basal ganglia lesion, EEG ... ORPHA:255249
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Focal tonic seizure, Myoclonus, Seizure, Brain atrophy, Bilateral tonic-clonic seizure with gener... ORPHA:314655
Poliomyelitis
Diminished movement, Inability to walk, Dysphagia, Abnormal motor nerve conduction velocity ORPHA:2912
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure OMIM:615474
Sandhoff Disease
Ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Hallermann-Streiff Syndrome
Small for gestational age, Bilateral tonic-clonic seizure, Proportionate short stature, Hyperacti... OMIM:234100
Progressive Multifocal Leukoencephalopathy
Abnormal oligodendroglia morphology, Dysmetria, Abnormal astrocyte morphology, Seizure, Gait ataxia ORPHA:217260
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Microcephaly, Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Argininemia
Cerebellar atrophy, Spastic gait, Seizure, Hyperactivity, Postnatal growth retardation OMIM:207800
Gabriele-De Vries Syndrome
Dystonia, Distal arthrogryposis, Intrauterine growth retardation, Small for gestational age, Decr... ORPHA:506358
Lujo Hemorrhagic Fever
Seizure, Dysphagia, Cerebral edema, Bilateral tonic-clonic seizure ORPHA:319213
X Small Rings
Seizure, Growth delay, Bilateral tonic-clonic seizure ORPHA:96201
Sotos Syndrome
Ankle flexion contracture, Astrocytoma, Bilateral camptodactyly, Hip contracture, Bilateral tonic... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Short stature, Delayed puberty, Ataxia, Attention deficit hyperactivity disorder, Generalized non... ORPHA:77293
Hydranencephaly
Abnormal corpus striatum morphology, Atrophic pituitary gland, Intrauterine growth retardation, T... ORPHA:2177
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Agenesis of cerebellar vermis, Seizure, Polymicrogyria, Chiari type I malformation... ORPHA:261537
Chediak-Higashi Syndrome
Gait disturbance, Neurodegeneration, Decreased nerve conduction velocity, Seizure, Ataxia OMIM:214500
Gaucher Disease
Dysphagia, Bilateral tonic-clonic seizure, Short stature, Arthrogryposis multiplex congenita, Ata... ORPHA:355
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Growth delay, Seizure, Inability to walk, Hypoplasia of the corpus callo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Growth delay, Seizure, Inability to walk, Hypoplasia of the corpus callo... ORPHA:352665
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Intrauterine growth retardation, Severe short stature, Seizure, Status epilepticus, Epileptic spa... ORPHA:2636
Mowat-Wilson Syndrome
Short stature, Agenesis of cerebellar vermis, Seizure, Polymicrogyria, Focal-onset seizure, Campt... ORPHA:2152
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Torticollis, Seizure, Hydrocephalu... OMIM:619475
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Agenesis of cerebellar vermis, Seizure, Polymicrogyria, Chiari type I malformation... ORPHA:261552
Mucopolysaccharidosis, Type Vii
Short stature, Neurodegeneration, Postnatal growth retardation, Hydrocephalus, Flexion contractur... OMIM:253220
Hurler Syndrome
Short stature, Neurodegeneration, Hernia, Inguinal hernia, Hydrocephalus, Flexion contracture, Um... OMIM:607014
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Dysphagia, Abnormality of the anterior pituitary, Short stature, Myoclonus, Bilateral t... ORPHA:438213
Cocaine Intoxication
Bilateral tonic-clonic seizure, Seizure, Atypical absence status epilepticus, Status epilepticus,... ORPHA:90068
Posterior Meningocele
Meningocele, Occipital meningocele, Chiari malformation, Neural tube defect, Hypokinesia, Hydroce... ORPHA:268810
Doors Syndrome
Dandy-Walker malformation, Arrhinencephaly, Bilateral tonic-clonic seizure, Myoclonus, Focal impa... ORPHA:79500
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Multiple System Atrophy 1, Susceptibility To
Ataxia, Olivopontocerebellar atrophy, Bradykinesia, Neurodegeneration OMIM:146500
Nijmegen Breakage Syndrome
Intrauterine growth retardation, Short stature, Neurodegeneration, Hyperactivity, Glioma, Microce... OMIM:251260
Rat-Bite Fever
Weight loss, Diminished movement ORPHA:31205
Danon Disease
Hypokinesia OMIM:300257
Tubular Renal Disease-Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Orofaciodigital Syndrome Type 2
Short stature, Bilateral tonic-clonic seizure ORPHA:2751
Alström Syndrome
Typical absence seizure, Polyphagia, Short stature, Dorsocervical fat pad, Truncal obesity, Ataxi... ORPHA:64
Primrose Syndrome
Hip contracture, Short stature, Neurodegeneration, Knee flexion contracture, Truncal obesity, Fle... OMIM:259050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lgi1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lgi1.

No publications found that use IMPC mice or data for Lgi1.

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MGI Allele Allele Type Produced
Lgi1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lgi1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lgi1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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