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Gene: S1pr2 MGI:99569

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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:
sphingosine-1-phosphate receptor 2
Synonyms:
H218,  S1P2,  1100001A16Rik,  Edg5,  Gpcr13,  LPb2

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 S1pr2 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 S1pr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419

The table below shows human diseases predicted to be associated to S1pr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Seizure, Ataxia, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... OMIM:619970
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... ORPHA:725
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Jeavons Syndrome
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit... ORPHA:139431
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:617389
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... OMIM:266100
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... OMIM:615400
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Otosclerosis 10
Otosclerosis OMIM:615589
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w... ORPHA:2382
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... ORPHA:163721
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni... OMIM:616187
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG with abno... ORPHA:599373
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:617904
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a... OMIM:617831
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Bilateral tonic-clonic seizure, Myoclonus, Hepatomegaly ORPHA:139406
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:254800
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon... OMIM:616409
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... OMIM:619605
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Typical absence seizure, Gener... OMIM:607682
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Landau-Kleffner Syndrome
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... ORPHA:98818
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Seizure, Bilateral tonic-clonic seizure OMIM:608636
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... OMIM:617113
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... OMIM:616139
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:616341
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Intellectual Developmental Disorder, Autosomal Dominant 5
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Ataxia, Bilateral tonic-clonic seizure, Chorea, Athetosis, Seizure, Foca... ORPHA:382
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... OMIM:617711
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl... OMIM:619301
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... OMIM:613855
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EEG abnorm... OMIM:617106
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... ORPHA:140927
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Seizure precipitated by febrile infection, B... ORPHA:363558
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Inability to ... ORPHA:52368
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Hypsarrhy... OMIM:619701
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Throm... OMIM:619302
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... ORPHA:86909
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized ... OMIM:617976
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
17Q24.2 Microdeletion Syndrome
Otosclerosis, Seizure, Microtia, Recurrent otitis media, Progressive conductive hearing impairment ORPHA:529962
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Thr... OMIM:610539
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Myoclonus OMIM:616230
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Focal EEG discharges with secondary generalization, EEG with foca... ORPHA:263516
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Myoclonus OMIM:609056
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:162350
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Partial absence of specific antibody response to tetanus vaccine, Splenomegaly, B A... OMIM:619824
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619913
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:618856
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Fragile X Syndrome
Seizure, Macrotia, Abnormal head movements OMIM:300624
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Vacuolated lymphocytes, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di... ORPHA:209370
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... OMIM:204300
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... OMIM:617836
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, Seizure OMIM:226750
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure... OMIM:271980
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Hypsarrhythmia OMIM:617507
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo... OMIM:617290
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,... ORPHA:580
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:607876
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a... OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... OMIM:613970
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Sensorineural hearing impairment, Optic atrophy, Seizure, Conductive h... ORPHA:217085
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
EEG abnormality, Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure OMIM:604317
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh... OMIM:617105
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Sensorineural hearing impairment, Optic atrophy, Seizure, Conductive h... ORPHA:217093
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with multifocal slow ac... ORPHA:289266
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptiform disch... OMIM:617166
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
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
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Huntington Disease-Like 1
Cerebellar atrophy, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Seizure, EEG abnorma... ORPHA:157941
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Generalize... OMIM:615637
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615362
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox... ORPHA:168491
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, EEG abnormality, Convulsive status epilepticus OMIM:618760
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... ORPHA:397596
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, EEG abnormality, Bilateral tonic-clonic seizure, Abnormal pe... ORPHA:457205
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure ORPHA:488635
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... OMIM:619881
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Stat... OMIM:612164
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Hearing impairment ORPHA:79087
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal epileptiform di... ORPHA:91131
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:301020
Systemic Primary Carnitine Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
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
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Infantile spasms, Focal impai... OMIM:617493
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Caudate atrophy, Chorea, Seizure, Progressive gait ata... ORPHA:157946
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia, Otitis media OMIM:601457
Beckwith-Wiedemann Syndrome
Otosclerosis, Wide anterior fontanel, Abnormal earlobe morphology, Anterior creases of earlobe, P... ORPHA:116
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epilepti... OMIM:619827
Ogden Syndrome
Abnormal head movements, Cerebral atrophy, Shuffling gait, Low-set ears, Macrotia ORPHA:276432
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... OMIM:619983
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... OMIM:600721
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... ORPHA:99027
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia OMIM:619877
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope... OMIM:618986
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, EEG abnormality, Neutropenia, Focal m... OMIM:617050
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta frequency activity in... ORPHA:98784
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... ORPHA:98795
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosis, Myoclonic seizure... OMIM:619835
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Cln3 Disease
Bilateral tonic-clonic seizure, Focal-onset seizure, Vacuolated lymphocytes, Myoclonic seizure, S... ORPHA:228346
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... ORPHA:488613
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Myoclonus OMIM:619065
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclonus ORPHA:561854
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Sensorineural hearing impairment, Absent circulating B cells OMIM:619693
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal sharp waves, Hypsarrhythmia, Sei... ORPHA:79243
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges OMIM:272300
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythmia OMIM:271900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure OMIM:618237
Sandhoff Disease, Infantile Form
Bilateral tonic-clonic seizure, Hepatosplenomegaly, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil... ORPHA:544503
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Fair hair, Sensorineural hearing impairment, O... ORPHA:79330
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Primary Dystonia, Dyt13 Type
Jerky head movements ORPHA:98807
Immunodeficiency 13
Lymphopenia, Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, B lymphocyto... OMIM:615518
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Hypsar... ORPHA:457351
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei... OMIM:169400
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... ORPHA:501
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... OMIM:620292
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:79264
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Bilateral tonic-clonic seizure, Abnormal lymphocyte count, Portal hyp... ORPHA:79124
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Fatigable weakness, Fatigable weakness of neck musc... ORPHA:42
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Somatic sensory dysfunction, Jerky head movements ORPHA:240103
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, EEG with continuous slow activity ORPHA:275864
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Bilateral tonic-clonic seizure, Pure red cell aplasia,... ORPHA:436159
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Progressive hearing impairment,... ORPHA:514
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... OMIM:301078
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Multifocal epileptiform dischar... OMIM:616672
Gorham-Stout Disease
Lymphangioma, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia OMIM:616881
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus, EEG with occipital epileptiform disch... ORPHA:254881
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:464282
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Focal clonic seizure, Myoclonus, Status ... OMIM:220120
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Stat... OMIM:610042
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Mult... ORPHA:369837
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, F... ORPHA:163681
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... OMIM:616005
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Seizure, Gait disturbance, Difficulty... ORPHA:90321
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615716
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, EEG with burst supp... ORPHA:1934
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Seizure, Low-set ears OMIM:614701
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges ORPHA:453510
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Seizure, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, EEG abnormality... OMIM:617281
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:614487
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Decreased circulating IgA level, Agammaglobuline... OMIM:300755
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... OMIM:616084
Multiple Synostoses Syndrome 1
Waddling gait, Stapes ankylosis, Progressive conductive hearing impairment, Bilateral conductive ... OMIM:186500
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the e... ORPHA:2306
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure, Elevated hemoglobin A1c OMIM:619278
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Bilateral tonic-clonic seizure, Pure red cell aplasia OMIM:618165
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... ORPHA:911
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... OMIM:615398
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Distal Deletion 10Q
Ataxia, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear malformation, Protru... ORPHA:96148
Schinzel-Giedion Syndrome
Abnormality of the stapes, Epileptic spasm, Aganglionic megacolon, Wide anterior fontanel, Hypsar... ORPHA:798
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with ... OMIM:618143
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Mesenteric cyst, Bilateral tonic-clonic seizure OMIM:618316
Japanese Encephalitis
Decreased motor nerve conduction velocity, Neutrophilia, Bilateral tonic-clonic seizure, EEG with... ORPHA:79139
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Facial capillary hemangioma, Generalized non-mo... OMIM:620224
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
D-Bifunctional Protein Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Splenomegaly, ... OMIM:261515
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Megaloblastic anemia, Generalized non-motor (abs... ORPHA:79351
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo... ORPHA:909
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Bilateral tonic-clonic seizure, Hepatocellular necrosis, Periportal fibrosis, Hepat... OMIM:201475
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Bilateral tonic-clonic seizure, Hepatomegaly ORPHA:369840
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Intellectual Developmental Disorder, Autosomal Dominant 53
EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-c... OMIM:617798
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:216400
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures OMIM:619725
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Mullegama-Klein-Martinez Syndrome
Facial palsy, Sensorineural hearing impairment, Unsteady gait, Absent stapes, Microtia, Atresia o... OMIM:301022
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Seizure, Myoclonus, EEG with s... ORPHA:247262
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Infantile spasms, Decreased ... OMIM:618733
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Nephroblastoma, Embryonal rhabdomyosarcoma, Seizure, Generalized ... OMIM:257300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... ORPHA:480864
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... OMIM:619580
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:481152
Melas
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Seizure, Recurrent pancreat... ORPHA:550
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Mend Syndrome
Abnormal auditory evoked potentials, Wide anterior fontanel, Seizure, Low-set ears ORPHA:401973
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Cockayne Syndrome B
Hepatomegaly, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis OMIM:608800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Leukocytosis, Fulminant hepatitis, Seizure, Leukopenia, Lymphopen... ORPHA:319213
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure ORPHA:369929
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Sandifer Syndrome
Abnormal head movements, Anemia ORPHA:71272
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Amish Lethal Microcephaly
Hepatomegaly, Bilateral tonic-clonic seizure ORPHA:99742
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:617193
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:602481
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Intellectual Developmental Disorder, Autosomal Dominant 54
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Neutropenia, Atonic se... OMIM:617799
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Focal motor seizure, EEG abnormality, Seizure, Status epilepticus ORPHA:2131
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:395
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Seizure, Stomatocytosis, Convulsive statu... OMIM:608885
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia... OMIM:301040
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response OMIM:620327
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Papilledema, Absent malleus, Seizure, Conductive hearing impairment, Chronic ot... OMIM:614188
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms, Hypsarrhythmia ORPHA:447997
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in... ORPHA:138
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
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 Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... OMIM:301044
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Increased theta frequency activity in EEG, S... ORPHA:459070
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Bilateral tonic-clonic seizure, Myoclonic seizure, Acute lymphoblastic leukemia, Se... OMIM:280000
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
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Generalized myoclonic se... ORPHA:255210
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sei... ORPHA:649
Gaucher Disease
Hepatomegaly, Pancytopenia, Bilateral tonic-clonic seizure, Splenomegaly, Hepatitis, Anemia, Cirr... ORPHA:355
Mitochondrial Complex I Deficiency, Nuclear Type 1
Splenomegaly, Bilateral tonic-clonic seizure, Hepatomegaly OMIM:252010
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure, Hepatomegaly OMIM:610505
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... ORPHA:51608
Holoprosencephaly 14
EEG abnormality, Bilateral tonic-clonic seizure OMIM:619895
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
De Sanctis-Cacchione Syndrome
Melanoma, Bilateral tonic-clonic seizure OMIM:278800
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Nk-Cell Enteropathy
Increased T cell count, Lymphoproliferative disorder ORPHA:263665
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Choreoacanthocytosis
Hepatomegaly, Bilateral tonic-clonic seizure, Acanthocytosis, Abnormal erythrocyte enzyme level, ... ORPHA:2388
Doors Syndrome
Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awareness seizure, Myoclonus, Cap... ORPHA:79500
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Pancreatic hypoplasia, Bilateral tonic-clonic seizure, Reduced pan... ORPHA:99885
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:620066
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms, Hepatic calcification ORPHA:73224
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Jaun... OMIM:300855
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... ORPHA:268261
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Bilateral tonic-clonic seizure, Small cell lung carcinoma, ... ORPHA:821
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure, Hamartoma of tongue ORPHA:2751
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:614947
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Eosinophilia, Facial palsy, Portal... ORPHA:797
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Anemia, General... ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:620330
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:614756
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Kabuki Syndrome 1
Hemolytic anemia, Bilateral tonic-clonic seizure with focal onset, Autoimmune thrombocytopenia, S... OMIM:147920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydrocele testis, Cryptorchidism, Exaggerated startle response, Chordee OMIM:619522

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 S1pr2

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 S1pr2.

No publications found that use IMPC mice or data for S1pr2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
S1pr2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
S1pr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
S1pr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
S1pr2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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