Gene Summary

Name:
SZT2 subunit of KICSTOR complex
Synonyms:
seaizure threshold 2

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Szt2em1(IMPC)Bay HOM   Early adult 0.00
abnormal retina inner nuclear layer morphology Szt2em1(IMPC)Bay HET Early adult 4.07×10-05

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Viewing: all phenotypes

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.

Eye Morphology

VIP of right fundus

13 Images

Eye Morphology

VIP of right eye

13 Images

Eye Morphology

VIP of left fundus

13 Images

Eye Morphology

VIP of left eye

13 Images

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-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration 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
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure... OMIM:615400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Epilepsy, Familial Temporal Lobe, 8
Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Focal-onset seizure OMIM:117100
Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
Photosensitive tonic-clonic seizure OMIM:226800
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-moto... OMIM:254770
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... OMIM:600669
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:605021
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Developmental And Epileptic Encephalopathy 104
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... OMIM:619970
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
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
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur... OMIM:608096
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Epilepsy, Familial Temporal Lobe, 6
Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic... OMIM:615697
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Perioral Myoclonia With Absences
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:139426
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Juvenile Absence Epilepsy
Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic ... ORPHA:1941
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Febrile seizure... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Autosomal Dominant Epilepsy With Auditory Features
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, Bilater... ORPHA:101046
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure OMIM:162350
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Clonic seizure, Generalized myoclonic seizure OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Bilateral ton... OMIM:617831
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal impaired awaren... OMIM:601764
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:618924
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure,... OMIM:611726
Epilepsy, Familial Focal, With Variable Foci 4
Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ... OMIM:617935
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:614558
Developmental And Epileptic Encephalopathy 34
Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:616645
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit... ORPHA:363549
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... ORPHA:65683
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F... OMIM:204300
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seiz... ORPHA:101071
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Developmental And Epileptic Encephalopathy 27
Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ... OMIM:616139
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:2382
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:254800
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Focal impaired a... OMIM:618587
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Generali... OMIM:614018
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... OMIM:619605
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, Nocturnal seizures, Infantil... ORPHA:98820
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:86909
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal... OMIM:619157
Lissencephaly 10
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Tonic seizure, Bilate... OMIM:618873
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, Myoclonus, Febrile seizure (within the age ran... OMIM:613855
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
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
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure OMIM:619000
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic 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, Autosomal Recessive 44
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:615942
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus OMIM:616230
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, Febrile seizure (within the age range of 3 months to... ORPHA:307
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-... ORPHA:382
Developmental And Epileptic Encephalopathy 102
Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilateral tonic-clo... OMIM:619881
Rare Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Seizure ORPHA:101685
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral to... ORPHA:330050
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:250972
Progressive Myoclonic Epilepsy Type 3
Myoclonus, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:263516
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, Seizu... OMIM:607624
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Developmental And Epileptic Encephalopathy 37
Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Multifocal seizures OMIM:616981
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 79
Status epilepticus, Bilateral tonic-clonic seizure with generalized onset, Tonic seizure, Migrati... OMIM:618559
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Tonic seizure, Myoclonus, Myoclonic seizure, Epileptic spasm, Bilateral... OMIM:619317
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure OMIM:618770
Yoon-Bellen Neurodevelopmental Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atoni... OMIM:619701
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Generalized myoclonic seizure OMIM:617836
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure OMIM:613970
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Cerebral Creatine Deficiency Syndrome 2
Atonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater... OMIM:612736
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Ceroid Lipofuscinosis, Neuronal, 3
Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:204200
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Limb myoclo... ORPHA:352582
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Clonic seizure, Tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:618917
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Generalized tonic seizure, Myoclonus, Epileptic spasm, Febrile seizure (within the age range of 3... ORPHA:289266
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... OMIM:271980
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure, Myoclo... OMIM:619913
Coloboma Of Macula
Macular coloboma OMIM:120300
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, Seizu... OMIM:256710
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Developmental And Epileptic Encephalopathy 4
Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, Bi... OMIM:612164
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Status epilepticus, Clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, S... OMIM:610539
New-Onset Refractory Status Epilepticus
Status epilepticus, Focal impaired awareness seizure, Focal aware motor seizure, Bilateral tonic-... ORPHA:363558
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure OMIM:618760
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal-onset seizure OMIM:301058
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure ORPHA:314911
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, Generalized myoclonic seiz... ORPHA:139431
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Focal motor seizure, Bilateral tonic-clonic se... ORPHA:1929
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Unilateral Focal Polymicrogyria
Focal motor seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:268947
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral tonic-clonic seizure, Ge... ORPHA:485350
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Generalized hyperpigmentation, Seizure, P... ORPHA:33445
Foxg1 Syndrome
Status epilepticus, Myoclonus, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:561854
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Bilateral tonic-clonic seizure, Seizure OMIM:619911
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Spastic Ataxia 5, Autosomal Recessive
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:614487
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Generalized non-motor (absence) seizure, Sei... OMIM:618170
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, ... ORPHA:1947
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:619428
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bilateral tonic-clonic seizure, Generalized-onset seizure, Seizure OMIM:619827
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Dentici-Novelli Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Myoclonic seizure, Epileptic spasm OMIM:619877
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Seizure ORPHA:529665
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Seizure ORPHA:464282
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Intellectual Developmental Disorder, Autosomal Dominant 45
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G... OMIM:617600
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Myocl... ORPHA:168491
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Focal-onset seizure ORPHA:91131
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:313772
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:64280
Methionine Malabsorption Syndrome
Blue irides, White hair, Seizure OMIM:250900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Bilateral tonic-clonic seizure ORPHA:369840
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... ORPHA:501
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-... ORPHA:98795
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:619983
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure ORPHA:275864
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:93952
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Canavan Disease
Bilateral tonic-clonic seizure, Epileptic spasm OMIM:271900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus OMIM:619725
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Myoclonic spasms, Seizure ORPHA:79264
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:488613
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
D-Glyceric Aciduria
Status epilepticus, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:220120
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Seizure ORPHA:457240
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal hyperkinetic seizure ORPHA:98784
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Seizure ORPHA:411515
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Molybdenum Cofactor Deficiency, Complementation Group C
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized myoclonic seizure OMIM:615501
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:544503
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure ORPHA:369929
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hypoglycemic seizures OMIM:609734
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure OMIM:169400
Combined Oxidative Phosphorylation Deficiency 27
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:616672
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Bilateral tonic-clonic seizure OMIM:602481
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:42
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair, Hypoglycemic seizures ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair, Hypoglycemic seizures ORPHA:71526
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized tonic seizure, Infan... ORPHA:480864
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Seizure, Premature graying of ... ORPHA:79477
X-Linked Intellectual Disability Due To Gria3 Mutations
Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Seizure ORPHA:364028
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure OMIM:608809
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Myoclonic seizure, Epileptic spa... OMIM:619580
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Bilateral Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized-onse... ORPHA:268940
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Seizure ORPHA:79243
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair, Seizure ORPHA:100
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:395
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, G... ORPHA:79351
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Myoc... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, T... OMIM:616973
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure ORPHA:481152
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized non-... ORPHA:457351
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm... OMIM:300912
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... ORPHA:435638
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Tonic seizure, Myoclonus, Infantile spasms, Myoclonic seizure, Myoclonic... OMIM:619777
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Generalized tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure OMIM:617193
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Biotinidase Deficiency
Focal motor seizure, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seiz... ORPHA:79241
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair, Seizure ORPHA:79254
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized tonic seizure, Myoclonus, Infantile spasms, Febrile seizure (within t... ORPHA:1934
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:329308
Developmental And Epileptic Encephalopathy 95
Status epilepticus, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Multifocal seiz... OMIM:618143
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Seizure OMIM:616716
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair ORPHA:2221
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Hyperphosphatasia-Intellectual Disability Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Seizure ORPHA:247262
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Sandhoff Disease
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Seizure OMIM:618156
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:496641
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:620024
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Intellectual Developmental Disorder, Autosomal Dominant 54
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure OMIM:617799
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Seizure ORPHA:411511
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:277590
Cntnap2-Related Developmental And Epileptic Encephalopathy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:163681
Japanese Encephalitis
Status epilepticus, Focal motor seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:79139
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bilateral tonic-clonic seizure, Generalized-onset seizure, Atonic seizure OMIM:620066
Alternating Hemiplegia Of Childhood
Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure ORPHA:2131
Melas
Myoclonus, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure ORPHA:550
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Bilateral tonic-clonic seizure, Seizure OMIM:301040
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic seizure, Seizure ORPHA:255210
Kinsship Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset s... OMIM:619297
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... ORPHA:369837
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Cocaine Intoxication
Status epilepticus, Atypical absence status epilepticus, Bilateral tonic-clonic seizure, Focal-on... ORPHA:90068
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, Ge... ORPHA:466943
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Seizure ORPHA:319213
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset ORPHA:255249
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Seizure OMIM:261515
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure ORPHA:488627
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset seizure OMIM:615476
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Chediak-Higashi Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... OMIM:214500
De Sanctis-Cacchione Syndrome
Bilateral tonic-clonic seizure OMIM:278800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure, Tonic seizure OMIM:619512
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:99885
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:257300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Multifocal seizures OMIM:301044
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Generalized tonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:459070
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Atonic seizure, Generalized myoclonic seizure, Febrile seizure (within t... ORPHA:268261
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Heterochromia iridis, Premature graying of... ORPHA:163746
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:513456
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure OMIM:252010
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Ogden Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure OMIM:300855
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Gaucher Disease
Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:355
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Seizure OMIM:614756
Doors Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:79500
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Generalized tonic seizure, Myoclonus, Epileptic spasm, Bilateral tonic-clonic seizure on awakenin... ORPHA:438213
Choreoacanthocytosis
Bilateral tonic-clonic seizure, Seizure ORPHA:2388
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Sotos Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Kabuki Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Seizure OMIM:147920
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration 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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SZT2 maintains hematopoietic stem cell homeostasis via nutrient-mediated mTORC1 regulation. The Journal of clinical investigation (October 2022) Szt2tm1c(KOMP)Wtsi Szt2tm1a(KOMP)Wtsi PMC9566891

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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
Szt2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Szt2em1(IMPC)Bay Exon Deletion Mice

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