Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
synaptosomal-associated protein 91
Synonyms:
91kDa,  AP180,  F1-20

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 Snap91 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Snap91 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... ORPHA:98818
Continuous Spikes And Waves During Sleep
Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... ORPHA:725
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Small for gestational age, Short stature, Focal impaired awarenes... OMIM:245570
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, EEG with focal sharp slow ... ORPHA:2382
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilate... ORPHA:101039
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Attention ... OMIM:619639
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... ORPHA:3006
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Severe postnatal growth retardatio... ORPHA:561854
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Aggressive behavior, ... OMIM:619157
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperact... OMIM:619191
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... ORPHA:36387
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Aggressive behavior, Depression, Bilateral tonic-clonic seizure OMIM:603204
Rare Non-Syndromic Intellectual Disability
Dystonia, Bilateral tonic-clonic seizure, Seizure, Emotional lability, Polymicrogyria, Difficulty... ORPHA:101685
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Multifocal epileptiform discharges,... OMIM:609056
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... ORPHA:1929
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Abnormal neuron morphology, Foc... ORPHA:65683
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Irritability, Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity, Anxiety OMIM:617796
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... ORPHA:86909
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Aggressive behavior, Simplified gyral pattern, Seizure, Hypera... OMIM:604317
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
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Tremor, Ataxia, Irritability, Anxi... OMIM:618093
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... OMIM:617831
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, N... ORPHA:98820
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... OMIM:271980
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bilateral tonic-clonic seizure, Short stature, Bradykinesia, Tremor, Ataxia, EEG abnorm... OMIM:617836
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Bilateral tonic-clonic seizure, Suicidal ideation, Aggres... ORPHA:208441
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Seizure, Hyperactivity, Inability to walk, Irritability OMIM:616657
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Focal tonic seizure, A... ORPHA:485350
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor, Seizure, Inab... ORPHA:330050
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity, Seizure, EEG abnormality ORPHA:436151
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Cortical Malformations, Occipital
Pachygyria, Polymicrogyria, EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... OMIM:618924
Late Infantile Neuronal Ceroid Lipofuscinosis
Seizure, Focal-onset seizure, Anxiety, EEG with spike-wave complexes, EEG with generalized slow a... ORPHA:168491
Mental Retardation, Autosomal Recessive 37
Seizure, Hyperactivity, Aggressive behavior OMIM:615493
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Bilateral tonic-clonic seizure, Abulia, Aggressive beha... ORPHA:275864
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Self-injurious ... ORPHA:178469
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure, No social interaction OMIM:309530
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:615369
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Skin-picking, Abnormal neuron morphology, Interictal epileptif... ORPHA:163681
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Panic attack, Agoraphobia, Fatigable weakness, Tremor, ... ORPHA:255
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Mental Retardation, Autosomal Dominant 45
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Pontocerebellar Hypoplasia, Type 14
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Myoclonic... OMIM:619301
Developmental And Epileptic Encephalopathy 6B
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... OMIM:619317
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Short stature OMIM:616311
Bilateral Generalized Polymicrogyria
Dystonia, Typical absence seizure, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurio... ORPHA:208447
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Atonic seizure, Focal-on... OMIM:300088
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Bilateral tonic-clonic seizure, Torticollis, Tremor, Ataxia OMIM:618425
Pontocerebellar Hypoplasia, Type 15
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Myoclonic... OMIM:619302
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... OMIM:254800
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Falls, Chin myoclonus, G... ORPHA:139426
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Short stature, Focal EEG discharges with secondary genera... ORPHA:3077
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, EEG with occipital epileptiform discharges, Tonic seizure, Bilateral tonic-clonic s... OMIM:619428
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Seizure, Eyelid myoclonus, Genera... OMIM:618357
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal periphera... ORPHA:457205
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:139431
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure, Inability to walk, Irritability, Lethargy ORPHA:314911
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to walk, EEG abno... OMIM:617810
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Short stature, Myoclonus,... OMIM:619065
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Postnatal growth retardation, Bilateral tonic-clonic seizure OMIM:608278
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality OMIM:617643
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... ORPHA:88616
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Growth delay, Se... ORPHA:488635
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Seizure, Hyperactivity, Anxie... OMIM:300558
Myoclonic-Astatic Epilepsy
Simple febrile seizure, EEG with focal spike waves, Interictal epileptiform activity, Generalized... ORPHA:1942
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior... ORPHA:382
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Tremor, Seizure... ORPHA:2590
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Short stature, Seizure, Ataxia, Generalized myoclonic s... ORPHA:464282
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Bilateral tonic-clonic seizure, Short stature, Self-mutilation, Tremor, Seizure... ORPHA:457240
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Infantile spasms, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Anxiety OMIM:619031
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Intrauterine growth retardation, Short stature OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Bilateral tonic-clonic seizure, Falls, Bradykinesia, Impaired tandem gait, Seiz... OMIM:300423
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Short stature, Hypsarrhythmi... ORPHA:91131
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure OMIM:104290
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure OMIM:616281
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia, Seizure OMIM:300983
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Akinetic mutism, Bilateral tonic-clonic seizure, Abulia, Aggressive behavior, A... ORPHA:199354
Hyperprolinemia, Type I
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Status epilepticus, EEG abnormality OMIM:239500
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:163721
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... OMIM:618917
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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Poor eye contact, Seizure, Anxiety, EEG abnormality, Del... ORPHA:72
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Paroxysmal dystonia, Bilateral tonic-clonic seizure, N... ORPHA:98784
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Inability to walk, Convulsive status epilepticus, EEG abnormal... OMIM:618760
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... ORPHA:42
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:607876
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Infantile spasms, Smal... ORPHA:79243
Familial Infantile Myoclonic Epilepsy
Gait disturbance, EEG with focal spike waves, Simple febrile seizure, Limb myoclonus, Bilateral t... ORPHA:352582
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Seizure, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Juvenile Huntington Disease
Dystonia, Weight loss, Myoclonus, Bradykinesia, Seizure, Hyperactivity, Progressive cerebellar at... ORPHA:248111
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Cln5 Disease
Seizure, Dysmetria, Aggressive behavior, EEG with generalized slow activity, Tremor, Hyperactivit... ORPHA:228360
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Opisthotonus, Happy demeanor, Paroxysmal bursts of laughter, Tonic seizure, Bilatera... OMIM:619580
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Self-biting, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior... OMIM:300912
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Short stature OMIM:300271
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
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Bilateral tonic-clonic seizure, Loss of ability to walk, Seizure, Emotional lab... ORPHA:79264
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity, Short stature, Small for gestational age ORPHA:85288
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Short stature DECIPHER:8
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Polymicrogyria, Bilateral tonic-clonic seizure OMIM:300388
Brain Small Vessel Disease 2
Growth delay, Bilateral tonic-clonic seizure, Subcortical heterotopia, Polymicrogyria, Focal-onse... OMIM:614483
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity, Seizure, Broad-based gait OMIM:619470
Sarcosinemia
Ataxia, Emotional lability, Bilateral tonic-clonic seizure ORPHA:3129
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Tremor, Seizure, Status epilepticus, EEG abnormality, ... ORPHA:529665
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Aggressive behavior, Seizure, Hyperactivity OMIM:618362
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Inability to walk, Status epilepticus, Bilateral tonic-clonic ... OMIM:616645
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia, Simplified gyral pattern OMIM:613402
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
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-ons... OMIM:619616
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
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
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
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
Developmental And Epileptic Encephalopathy 43
Seizure, Hyperactivity, Ataxia OMIM:617113
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Seizure, ... ORPHA:1934
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Bilateral tonic-clonic seizure, Dysmetria, Inability to walk, Atonic seizure, A... ORPHA:93952
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Infantile spasms, Failure... ORPHA:544503
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... ORPHA:79137
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, Tremor, EEG with burst suppression, Status epilep... OMIM:612164
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Short stature, Aggressive behavior, Hyperactivity, Impulsivity OMIM:309548
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... OMIM:609425
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis, EEG a... ORPHA:313772
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Fraxe Intellectual Disability
Intrauterine growth retardation, Short stature, Aggressive behavior, Hyperactivity, Impulsivity ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Continuous spike and waves during ... OMIM:301008
Xq25 Microduplication Syndrome
Seizure, Hyperactivity, Anxiety, Short stature ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity, Anxiety, Short stature OMIM:300979
Mental Retardation, Autosomal Dominant 43
Seizure, Hyperactivity, Anxiety, Impulsivity OMIM:616977
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Phenylketonuria
Aggressive behavior, Self-mutilation, Seizure, Hyperactivity, Irritability, Anxiety, Attention de... OMIM:261600
Lafora Disease
Gait disturbance, Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonu... ORPHA:501
Ck Syndrome
Aggressive behavior, Slender build, Seizure, Hyperactivity, Pachygyria, Irritability, Polymicrogyria ORPHA:251383
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Seizure, Hyperactivity, Ataxia, EEG abnormality, Broad-ba... ORPHA:411515
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk,... OMIM:618718
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Ataxia, Dysdiadoc... OMIM:614487
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
X-Linked Intellectual Disability Due To Gria3 Mutations
Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Self-mutilation, Myoclonus, P... ORPHA:364028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk, Seizure, Generalized myocl... OMIM:618090
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clo... OMIM:607745
Ck Syndrome
Aggressive behavior, Slender build, Seizure, Hyperactivity, Pachygyria, Irritability, Polymicrogyria OMIM:300831
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Seizure OMIM:615924
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Failure to thrive, Seizure, Hyperactivity, Lethargy OMIM:274270
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
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
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
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurio... ORPHA:457351
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Seizure OMIM:612716
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
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Athetosis, Inappropriate crying, Abnormal cortical gyration, Generalized non-motor (absence) seiz... ORPHA:79351
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Difficulty walking, Truncal ataxia, Bilateral tonic-clonic seizure ORPHA:369840
Alpers-Huttenlocher Syndrome
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Progressive Supranuclear Palsy
Dystonia, Falls, Bradykinesia, Tremor, Abnormal synaptic transmission, Depression, Unsteady gait,... ORPHA:683
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Decreased body weight, Short stature OMIM:618342
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor, Seizure, Clonic seizure, Bilateral tonic-clonic seizure with focal o... OMIM:610539
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
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
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Impaired tandem gait, Tremor, Ataxia, Bilateral tonic-clonic seizure with g... OMIM:619028
Aminoacylase 1 Deficiency
Seizure, Hyperactivity OMIM:609924
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Gait imbalance, Bilateral tonic-clonic seizure, Seizure, ... ORPHA:98795
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Febrile seizure (within the age range of 3 months... OMIM:614104
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... ORPHA:1947
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Short stature, Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity,... OMIM:300354
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Self-mutilation, Small for gestational age, Bilateral tonic-c... ORPHA:453510
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmia, EEG with burst ... OMIM:301058
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Obesity, Attention deficit hy... ORPHA:777
Infantile Cerebellar-Retinal Degeneration
Athetosis, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-onset seizure, Decrea... OMIM:614559
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Loss of ambulation, Falls, Progressive gait ataxia, Loss of abili... ORPHA:329308
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Failure to thrive, Aggressive behavior, Seizure, Ataxia, Inabilit... ORPHA:481152
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Failure to thrive, Aggressive behavior, Seizure, Hyperactivity OMIM:615286
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Short stature OMIM:615541
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Anxiety, Depression OMIM:619467
Clark-Baraitser Syndrome
Seizure, Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Short stature OMIM:300434
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Growth delay, Aggressive behavior, Self-mutilation, Myoclonus, Poor... OMIM:103050
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, EEG abnormality OMIM:617773
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Bilateral tonic-clonic seizure OMIM:619356
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Seizure, Hyperactivity, Inability to walk, EEG abnormality, Impuls... ORPHA:500180
Amish Lethal Microcephaly
Lissencephaly, Irritability, Bilateral tonic-clonic seizure ORPHA:99742
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, EEG abnormality, ... OMIM:610042
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Opisthotonus, Bilateral tonic-clonic seizure... ORPHA:79139
Intellectual Developmental Disorder, X-Linked 107
Obesity, Aggressive behavior, Seizure, Hyperactivity, Anxiety, Attention deficit hyperactivity di... OMIM:301013
Hyperphosphatasia With Mental Retardation Syndrome 6
Growth delay, EEG with multifocal slow activity, Aggressive behavior, Seizure, Hyperactivity OMIM:616809
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Seizure, Irritability, Anxiety, Hair-pul... ORPHA:2388
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Developmental And Epileptic Encephalopathy 95
Gait disturbance, Inappropriate crying, Bilateral tonic-clonic seizure, Multifocal seizures, Inap... OMIM:618143
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Short stature, Exaggera... ORPHA:309246
Pelger-Huet Anomaly
Seizure, Mild short stature, Bilateral tonic-clonic seizure, Failure to thrive OMIM:169400
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
Melas
Gait disturbance, Bilateral tonic-clonic seizure, Short stature, Failure to thrive, Myoclonus, Se... ORPHA:550
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Myoclonus, Inappropriate laughter, Tremor, Hyperactivity, Ataxia,... ORPHA:98794
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Molybdenum Cofactor Deficiency, Complementation Group C
Opisthotonus, Bilateral tonic-clonic seizure, Poor eye contact, Seizure, Polymicrogyria, Generali... OMIM:615501
Ritscher-Schinzel Syndrome 4
Athetosis, Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Ataxia, Focal-onse... OMIM:619435
Intellectual Developmental Disorder, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-mutilati... OMIM:615516
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Small for gestational age, Seizure, Hyperactivity, Attention deficit hyperactivity... ORPHA:352490
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Seizure, Hyperactivity, ... ORPHA:449291
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Tonic seizure, Infantile spasms, Failure to thrive, Hypsarrhythmia, EEG with burst suppression, H... OMIM:619239
Alternating Hemiplegia Of Childhood
Dystonia, Bilateral tonic-clonic seizure, Failure to thrive, Aggressive behavior, Focal motor sei... ORPHA:2131
Smith-Magenis Syndrome
Short stature, Self-mutilation, Seizure, Hyperactivity, EEG abnormality, Head-banging, Increased ... OMIM:182290
Chromosome 10Q26 Deletion Syndrome
Small for gestational age, Short stature, Aggressive behavior, Seizure, Hyperactivity, Postnatal ... OMIM:609625
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Seizure, Hyperactivity, Broad-based gait, Decreased body weight OMIM:300958
Potocki-Lupski Syndrome
Small for gestational age, Short stature, Failure to thrive, Poor eye contact, Seizure, Hyperacti... OMIM:610883
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Gait disturbance, Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Ataxia, Focal-onset... ORPHA:395
Chromosome 2Q37 Deletion Syndrome
Short stature, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Obesity OMIM:600430
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Hyperphosphatasia-Intellectual Disability Syndrome
Gait disturbance, Growth delay, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Ataxia, EEG w... ORPHA:247262
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Hyperactivity, Aggressive behavior, Intrauterine growth retardation OMIM:615824
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Borderline pers... ORPHA:466950
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Ataxia, Generalized myo... ORPHA:435638
Severe Neurodegenerative Syndrome With Lipodystrophy
Myoclonus, Tremor, Hyperactivity, Ataxia, Seizure, Status epilepticus, Gait ataxia, Limb dystonia ORPHA:363400
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Growth delay, Short stature, Self-injurious behavior, Seizure, Hyp... ORPHA:228402
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure, Mul... ORPHA:480864
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Intrauterine growth retardation ORPHA:369939
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Cerebellar ataxia associated with quadrupedal gait, Bilateral tonic-c... ORPHA:268940
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Growth delay, Bilateral tonic-clonic seizure, Seizure, Ataxia, Inability to walk, Generalized ton... OMIM:617193
Fragile X Syndrome
Seizure, Hyperactivity, Poor eye contact, Periventricular heterotopia OMIM:300624
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Cri-Du-Chat Syndrome
Growth delay, Small for gestational age, Aggressive behavior, Conspicuously happy disposition, Se... OMIM:123450
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Short stature, Self-mutilation, Seizure, Hyperactivity, Ataxia ORPHA:52503
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... ORPHA:466943
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Broad-based gait OMIM:616351
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Seizure, Hyperactivity, A... ORPHA:35069
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Seizure, Hyperactivity, Ataxia, Abnormal social behavior ORPHA:530983
Pontocerebellar Hypoplasia, Type 2E
Opisthotonus, Infantile spasms, Tonic seizure, Failure to thrive, Short stature, Myoclonic seizur... OMIM:615851
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Severe failure to thrive, Short stature, Bilateral tonic-clonic ... ORPHA:423479
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Focal myocl... ORPHA:369929
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Periventricular heterotopia, Infantile spasms, Decreased nerve co... OMIM:618733
Gomez-Lopez-Hernandez Syndrome
Short stature, Self-injurious behavior, Seizure, Hyperactivity, Ataxia, Depression, Bipolar affec... OMIM:601853
Mental Retardation, Autosomal Recessive 13
Seizure, Hyperactivity, Truncal obesity OMIM:613192
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Bilateral tonic-clonic seizure OMIM:608809
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Short stature, Failure to thrive, Inappropriate laughter, General... OMIM:615802
Hermansky-Pudlak Syndrome 10
Dystonia, Focal myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:617050
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Short stature, Aggressive behavior, Tremor, Hyperactivity, Seizure, EEG abnormality, Br... ORPHA:85293
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Failure to thrive in infancy, Gait imbalance, Aggressive behavior, Seizure, Bil... ORPHA:488627
Myopathy With Extrapyramidal Signs
Dystonia, Perisylvian polymicrogyria, Growth delay, Tremor, Hyperactivity, Ataxia, Seizure, Statu... OMIM:615673
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Short stature OMIM:617302
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Aggressive behavior, Multifocal epileptiform discharges, Hyperactivity, Ataxia, EE... ORPHA:369891
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Self-biting, Aggressive behavior, Seizure, Hyperactivity ORPHA:3306
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Self-mutilation, Hyperactivity... ORPHA:412035
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Myoclonic spasms, Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythmia,... ORPHA:447997
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Irritability OMIM:275000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Aggressive behavior, Seizure, Hyperactivity, Ataxia, Anxiety OMIM:618430
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gait disturbance, Failure to thrive in infancy, Febrile seizure (within the age range of 3 months... ORPHA:268261
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Tonic seizure, Bilateral tonic-clonic seizure, Self-injurious behavior, Failure to thrive, Myoclo... OMIM:619512
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Growth delay, Bilateral ... ORPHA:496641
Angelman Syndrome
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Seizure, Hyperactivity, EEG ... OMIM:105830
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure, Lethargy OMIM:201475
16P12.1P12.3 Triplication Syndrome
Skin-picking, Intrauterine growth retardation, Failure to thrive, Hyperactivity, Anxiety, Attenti... ORPHA:485405
Rhizomelic Chondrodysplasia Punctata, Type 5
Growth delay, Short stature, Seizure, Convulsive status epilepticus, Broad-based gait OMIM:616716
Sandhoff Disease
Ataxia, Myoclonic seizure, Exaggerated startle response, Bilateral tonic-clonic seizure OMIM:268800
1Q44 Microdeletion Syndrome
Short stature, Growth delay, Bilateral tonic-clonic seizure ORPHA:238769
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Multifocal epileptiform ... ORPHA:369837
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Failure to thrive, Aggressive behavior, Shuffling gait, Seizure, Hyperactivity, Lo... OMIM:300534
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Impulsivity OMIM:300143
Biotinidase Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, Ataxia, Generaliz... ORPHA:79241
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
19P13.3 Microduplication Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Intrauterine growth retardation, G... ORPHA:447980
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Failure to thrive, Seizure, Ataxia, G... ORPHA:255210
Lujo Hemorrhagic Fever
Seizure, Anxiety, Resting tremor, Bilateral tonic-clonic seizure ORPHA:319213
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Intrauterine growth retardation, Self-mutilation, Inappropriate laughter, Hyperactivity, Low frus... ORPHA:363686
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Seizure, Hyperactivity, Dysdiadochokinesis, ... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Seizure, Hyperactivity, Emotional lability, Low frustration tolerance, Impai... OMIM:309520
Myoclonic Epilepsy Of Lafora
Gait disturbance, Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with ... OMIM:254780
Citrullinemia Type Ii
Decreased body mass index, Aggressive behavior, Tremor, Hyperactivity, Seizure, Irritability, Del... ORPHA:247585
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Failure to thrive, Decreased nerve conduction velocity, Seizure, ... OMIM:261515
Mosaic Variegated Aneuploidy Syndrome 1
Intrauterine growth retardation, Short stature, Small for gestational age, Bilateral tonic-clonic... OMIM:257300
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Short stature ORPHA:391307
Glass Syndrome
Happy demeanor, Short stature, Aggressive behavior, Seizure, Hyperactivity, Broad-based gait OMIM:612313
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Large for gestational age, Seizure, Hyperactivity, Polymicrogyria, Generalized-... ORPHA:457485
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Status epilepticus, Generalized-onset seizure, Self-biting OMIM:618314
Mental Retardation, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Intrauterine growth retardation, Short stature, Failure to thrive, Aggressive b... ORPHA:363528
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Bilateral tonic-clonic seizure, Failure to thrive, Poor eye contact, Ataxia, Lethargy OMIM:252010
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Hallermann-Streiff Syndrome
Hyperactivity, Proportionate short stature, Small for gestational age, Bilateral tonic-clonic sei... OMIM:234100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Torticollis, Poor eye contact, Iso... OMIM:619475
Pediatric-Onset Graves Disease
Mood swings, Intrauterine growth retardation, Failure to thrive, Tremor, Hyperactivity, Irritability ORPHA:525731
Mend Syndrome
Seizure, Hyperactivity, Short stature OMIM:300960
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Acrodysostosis 2 With Or Without Hormone Resistance
Mild short stature, Hyperactivity, Intrauterine growth retardation, Obesity OMIM:614613
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Failure to thrive, Weight loss, ... ORPHA:99885
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Self-injurious behavior, Seizure, Hyperactivity, Obesity ORPHA:254346
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Kinsship Syndrome
Bilateral tonic-clonic seizure, Short stature, Failure to thrive, Myoclonus, Focal-onset seizure,... OMIM:619297
47,Xyy Syndrome
Seizure, Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Impaired social in... ORPHA:8
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Intrauterine growth retardation, Growth delay, Bilateral tonic-clonic seizure, Infantile spasms, ... OMIM:301044
Hyperlysinemia
Opisthotonus, Short stature, Dysmetria, Failure to thrive, Tremor, Hyperactivity, Seizure, Tip-to... ORPHA:2203
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Seizure, Hyperactivity, Low frustration tolerance, Gait ataxia OMIM:300486
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Failure to thrive in infancy, Short stature, Self-injurious behavior, Seizu... ORPHA:261323
Wiedemann-Steiner Syndrome
Intrauterine growth retardation, Short stature, Failure to thrive, Aggressive behavior, Rhizomeli... ORPHA:319182
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Growth delay, Short stature OMIM:614294
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
White-Sutton Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Short stature, Self-injurious beha... ORPHA:468678
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Koolen-De Vries Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Failure to thrive, Con... OMIM:610443
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Slender build, Large for gestational age, Impaired social interac... ORPHA:457359
Mucopolysaccharidosis, Type Iiib
Seizure, Hyperactivity, Aggressive behavior OMIM:252920
7Q11.23 Microduplication Syndrome
Growth delay, Short stature, Dysmetria, Self-injurious behavior, Aggressive behavior, Obesity, Si... ORPHA:96121
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure OMIM:615474
X Small Rings
Seizure, Growth delay, Bilateral tonic-clonic seizure ORPHA:96201
Cocaine Intoxication
Bilateral tonic-clonic seizure, Tremor, Seizure, Atypical absence status epilepticus, Status epil... ORPHA:90068
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Gaucher Disease
Bilateral tonic-clonic seizure, Short stature, Tremor, Ataxia, Generalized myoclonic seizure, Dep... ORPHA:355
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fa... ORPHA:513456
Seckel Syndrome 1
Intrauterine growth retardation, Proportionate short stature, Seizure, Hyperactivity, Pachygyria,... OMIM:210600
Helsmoortel-Van Der Aa Syndrome
Seizure, Hyperactivity, Short stature, Obesity OMIM:615873
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Small for gestational age, Aggressive behavior, Seizure, Hyperactivity OMIM:619148
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with focal spikes, Intrauterine growth retar... ORPHA:255249
Mend Syndrome
Abnormal auditory evoked potentials, Short stature, Failure to thrive, Aggressive behavior, Seizu... ORPHA:401973
Argininemia
Spastic gait, Seizure, Hyperactivity, Irritability, Postnatal growth retardation OMIM:207800
Brain-Lung-Thyroid Syndrome
Dystonia, Growth delay, Short stature, Failure to thrive, Myoclonus, Falls, Intention tremor, Hyp... ORPHA:209905
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Tuberous Sclerosis Complex
Infantile spasms, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Status ep... ORPHA:805
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Aggressive behavior, Seizure, Hyperactivity, Ataxia, Disinh... ORPHA:581
Brooks-Wisniewski-Brown syndrome
Severe postnatal growth retardation, Short stature, Small for gestational age, Seizure, Hyperacti... OMIM:300612
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure ORPHA:2920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Growth delay, Short stature, Agoraphobia, Self-injurious ... ORPHA:353281
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Limb myoclonus, Dysmetria, Seizure, Hyperactivity, Inability to walk, Ataxia, D... ORPHA:139396
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Intrauterine gro... ORPHA:464306
Dyggve-Melchior-Clausen Disease
Failure to thrive, Rhizomelia, Severe short stature, Hyperactivity, Inability to walk, Disproport... ORPHA:239
Coffin-Siris Syndrome
Intrauterine growth retardation, Growth delay, Aggressive behavior, Simplified gyral pattern, Sei... ORPHA:1465
Joubert Syndrome 1
Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Hemifacial spasm OMIM:213300
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Short stature, Myoclonus, Exaggerated startle response, Bilateral tonic-clonic seizure ... ORPHA:438213
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Polymicrogyria, EEG ... ORPHA:79500
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Focal impaired awareness seizure, Tremor, Se... ORPHA:821
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Intrauterine growth retardation, Short stature, Agoraphob... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Intrauterine growth retardation, Short stature, Agoraphob... ORPHA:353277
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Weight loss, Small for gestational age ORPHA:424
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Growth delay, Small for gestational age, Short stature, Aggressi... OMIM:613406
Distal Monosomy 12Q
Failure to thrive in infancy, Growth delay, Short stature, Self-mutilation, Hyperactivity, Obesit... ORPHA:96149
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Periventricular heterotopia, Failur... OMIM:270400
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Seizure, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Legius Syndrome
Dystonia, Short stature, Seizure, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:137605
Tubular Renal Disease-Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Bradykinesia, Depression, Tremor, Hyperactivity, Ataxia, Akinesia, Bl... OMIM:234200
Mucopolysaccharidosis Type 2
Growth delay, Short stature, Aggressive behavior, Decreased nerve conduction velocity, Seizure, H... ORPHA:580
Orofaciodigital Syndrome Type 2
Short stature, Bilateral tonic-clonic seizure ORPHA:2751
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Weight loss ORPHA:99819
Rubinstein-Taybi Syndrome 1
Abnormal fear/anxiety-related behavior, Growth delay, Short stature, Agoraphobia, Failure to thri... OMIM:180849
Hereditary Sensory And Autonomic Neuropathy Type 4
Growth delay, Self-mutilation, Hyperactivity, Impulsivity, Abnormality of peripheral nerve conduc... ORPHA:642
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Monosomy 22Q13.3
Seizure, Hyperactivity, Hair-pulling, Obesity ORPHA:48652
8Q24.3 Microdeletion Syndrome
Intrauterine growth retardation, Small for gestational age, Short stature, Poor eye contact, Infa... ORPHA:508488

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 Snap91

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 Snap91.

No publications found that use IMPC mice or data for Snap91.

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MGI Allele Allele Type Produced
Snap91tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Snap91tm188445(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Snap91tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Snap91em1(IMPC)H Exon Deletion Mice

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