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Gene: Szt2 MGI:3033336

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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:
SZT2 subunit of KICSTOR complex
Synonyms:
seaizure threshold 2

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 Szt2 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 Szt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Seizure, Myoclonus ORPHA:442835

The table below shows human diseases predicted to be associated to Szt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Silver-gray hair, Seizure, Accumulation of melanosome... OMIM:214450
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Tonic seizure OMIM:618924
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... ORPHA:101071
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-cloni... OMIM:616645
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Seizure, Infantile spasms, Focal impaired awareness seizure, Bilateral tonic... ORPHA:65683
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Focal impa... OMIM:618587
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Focal ... ORPHA:98820
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... OMIM:619157
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal-onset seizur... ORPHA:36387
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... ORPHA:3006
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... ORPHA:263516
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Focal impaired ... ORPHA:330050
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619301
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Landau-Kleffner Syndrome
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... ORPHA:98818
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:617836
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Seizure, Accumulation of melanosome... OMIM:607624
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Developmental And Epileptic Encephalopathy 79
Seizure, Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Myoclonic sei... OMIM:618559
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Status epilepticu... OMIM:619317
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618770
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:619302
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:178469
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure OMIM:300423
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:726
Familial Infantile Myoclonic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Seizure, Bilateral t... ORPHA:352582
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:208447
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... 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), Generalized tonic seizure, Focal-o... ORPHA:289266
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Bilateral tonic-clonic seizure with generalized onset OMIM:618730
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Epileptic spasm, G... OMIM:612164
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Genera... ORPHA:382
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363558
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Convulsive status epilepticus OMIM:618760
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Seizure, Accumulation of melanosome... OMIM:256710
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:301058
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:2590
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
Rasmussen Subacute Encephalitis
Generalized tonic seizure, Focal-onset seizure, Generalized convulsive status epilepticus, Focal ... ORPHA:1929
Unilateral Focal Polymicrogyria
Simple febrile seizure, Seizure, Focal impaired awareness seizure, Focal motor seizure, Bilateral... ORPHA:268947
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:485350
Foxg1 Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Infantile spasms ORPHA:561854
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Seizure, Generalized hyperpigmentation, Hypo... ORPHA:33445
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Seizure, Bilateral tonic-clonic seizure ORPHA:529665
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:464282
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Typical absence s... ORPHA:101070
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal to... ORPHA:168491
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:313772
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic... ORPHA:501
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, A... ORPHA:98795
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Methionine Malabsorption Syndrome
Seizure, White hair, Blue irides OMIM:250900
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure OMIM:619091
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Coenzyme Q10 Deficiency, Primary, 9
Bilateral tonic-clonic seizure with generalized onset, Myoclonus OMIM:619028
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:79264
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:488613
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Generalized myoclonic ... ORPHA:1947
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Nocturnal seizures ORPHA:98784
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:544503
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:79243
Mental Retardation, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Seizure, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Bilateral tonic-clonic sei... ORPHA:480864
Bilateral Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Infantile spasms, Generalized-onset... ORPHA:268940
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, My... OMIM:619092
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:364028
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Red hair OMIM:609734
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure OMIM:608809
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Atonic seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure OMIM:619059
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Seizure, Partial albi... ORPHA:79477
Ring Chromosome 21 Syndrome
Simple febrile seizure, Bilateral tonic-clonic seizure with generalized onset, Seizure, Generaliz... ORPHA:1445
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hypopigmentation of the skin, Red hair ORPHA:71526
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... ORPHA:395
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Atonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:79351
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure OMIM:619076
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... ORPHA:72
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... ORPHA:435638
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasm... ORPHA:457351
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:617193
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal motor seizure, Infantile spasms, Generalized myocl... ORPHA:79241
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Ataxia-Telangiectasia
Seizure, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, Simple febrile seizure, Generalized non-motor (absence) seiz... ORPHA:1942
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... OMIM:618143
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus OMIM:616716
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:247262
Classic Phenylketonuria
Seizure, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Sandhoff Disease
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618733
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Bilater... ORPHA:496641
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Myoclonus, Tonic seizur... OMIM:615851
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615802
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Squalene Synthase Deficiency
Seizure, Abnormality of hair pigmentation OMIM:618156
Melas
Seizure, Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:550
Mitochondrial Dna-Associated Leigh Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:255210
Japanese Encephalitis
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Focal motor seizure ORPHA:79139
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized tonic seizure, Bilateral tonic-clonic seizur... ORPHA:369837
Alternating Hemiplegia Of Childhood
Status epilepticus, Bilateral tonic-clonic seizure, Seizure, Focal motor seizure ORPHA:2131
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Focal tonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonus, E... ORPHA:314655
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Cocaine Intoxication
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Atypical absenc... ORPHA:90068
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Angelman Syndrome Due To A Point Mutation
Seizure, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997
Tubular Renal Disease-Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Kinsship Syndrome
Generalized non-motor (absence) seizure, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic s... OMIM:619297
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Bilateral tonic-clonic seizure ORPHA:466950
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:257300
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:99885
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... ORPHA:268261
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:459070
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Infantile spasms OMIM:301044
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Generalized tonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Epile... ORPHA:438213
Choreoacanthocytosis
Seizure, Bilateral tonic-clonic seizure ORPHA:2388
Sotos Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal impaired ... ORPHA:821
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Non-Specific Early-Onset Epileptic Encephalopathy
Status epilepticus, Seizure, Myoclonus ORPHA:442835

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 Szt2

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 Szt2.

No publications found that use IMPC mice or data for Szt2.

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MGI Allele Allele Type Produced
Szt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Szt2em1(IMPC)Bay Exon Deletion Mice

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