Gene: S1pr2 MGI:99569

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.

Human diseases associated with S1pr2 (1 diseases)
Human diseases predicted to be associated with S1pr2 (512 diseases)

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	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
Deafness, X-Linked 6	Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment	OMIM:300914
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a...	OMIM:611572
Cochleosaccular Degeneration-Cataract Syndrome	Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment, Seizure	ORPHA:3233
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf...	OMIM:616515
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur...	OMIM:619964
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Epilepsy, Familial Adult Myoclonic, 1	EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes...	OMIM:601068
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Deafness, Autosomal Dominant 9	Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali...	OMIM:601369
Deafness, Autosomal Recessive 29	Sensorineural hearing impairment, Hearing impairment	OMIM:614035
Deafness, Autosomal Recessive 57	Sensorineural hearing impairment, Hearing impairment	OMIM:618003
Deafness, Autosomal Recessive 20	Sensorineural hearing impairment, Hearing impairment	OMIM:604060
Deafness, Autosomal Recessive 13	Sensorineural hearing impairment, Hearing impairment	OMIM:603098
Epilepsy, Familial Temporal Lobe, 5	Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in...	OMIM:614417
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Enhancement ...	OMIM:615127
Developmental And Epileptic Encephalopathy 104	Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic...	OMIM:619970
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction	Focal motor seizure, Ataxia, Cochlear degeneration, Photosensitive myoclonic seizure, Progressive...	OMIM:172500
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes	OMIM:611364
Epilepsy, Familial Adult Myoclonic, 3	EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor...	OMIM:613608
Epilepsy, Familial Temporal Lobe, 1	Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De...	OMIM:600512
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal	OMIM:618013
Continuous Spikes And Waves During Sleep	Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem...	ORPHA:725
Developmental And Epileptic Encephalopathy 94	Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera...	OMIM:615369
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Deafness, X-Linked 2	Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil...	OMIM:304400
Benign Familial Infantile Epilepsy	Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz...	ORPHA:306
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Seizures, Benign Familial Neonatal, Autosomal Recessive	Normal interictal EEG, Bilateral tonic-clonic seizure	OMIM:269720
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Recurrent otitis med...	OMIM:618982
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, B...	OMIM:245570
Cerebellar Atrophy, Developmental Delay, And Seizures	Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Seizure	OMIM:617643
Developmental And Epileptic Encephalopathy 26	Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni...	OMIM:616056
Autosomal Dominant Epilepsy With Auditory Features	Focal aware seizure, EEG with focal epileptiform discharges, Focal autonomic seizure, Bilateral t...	ORPHA:101046
Familial Focal Epilepsy With Variable Foci	Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ...	ORPHA:98820
Cortical Malformations, Occipital	Bilateral tonic-clonic seizure, EEG abnormality	OMIM:614115
Epilepsy, Pyridoxine-Dependent	Status epilepticus, Clonic seizure, Generalized myoclonic seizure, EEG with burst suppression, Bi...	OMIM:266100
Deafness, Autosomal Dominant 77	Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear	OMIM:618915
Epilepsy, Myoclonic Juvenile	Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo...	OMIM:254770
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Continuous spike and waves during slow sleep, Bilateral tonic-clonic seizure with focal onset, EE...	ORPHA:163721
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awareness seizure	OMIM:610003
Otosclerosis 10	Otosclerosis	OMIM:615589
Jeavons Syndrome	EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen...	ORPHA:139431
Developmental And Epileptic Encephalopathy 13	Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral...	OMIM:614558
Lennox-Gastaut Syndrome	Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General...	ORPHA:2382
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal...	ORPHA:90646
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure, Hepatomegaly, Splenomegaly	ORPHA:139406
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizu...	OMIM:617831
Pyridoxine-Dependent Epilepsy	Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil...	ORPHA:3006
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Somatic sensory dysfu...	ORPHA:320401
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ...	OMIM:615559
Centralopathic Epilepsy	Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, EEG with centrotemporal foca...	OMIM:117100
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula...	OMIM:600791
Myoclonic Epilepsy Of Unverricht And Lundborg	EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral tonic-clon...	OMIM:254800
Perioral Myoclonia With Absences	EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen...	ORPHA:139426
Developmental And Epileptic Encephalopathy 33	Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps...	OMIM:616409
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Hearing impairment	OMIM:166220
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c...	OMIM:607682
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy	Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st...	OMIM:124490
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure	OMIM:616341
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ...	OMIM:619000
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co...	OMIM:128980
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Developmental And Epileptic Encephalopathy 27	Myoclonus, Infantile spasms, Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, ...	OMIM:616139
Landau-Kleffner Syndrome	EEG with frontal focal spikes, Atypical absence seizure, Focal motor seizure, Bilateral tonic-clo...	ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, EEG with spike-w...	OMIM:618587
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas...	ORPHA:3232
Developmental And Epileptic Encephalopathy 43	Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl...	OMIM:617113
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Osteogenesis Imperfecta, Type I	Otosclerosis, Hearing impairment	OMIM:166200
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Ataxia, Abnormal head movements	ORPHA:71518
Deafness, Autosomal Recessive 68	Sensorineural hearing impairment	OMIM:610419
Developmental And Epileptic Encephalopathy 98	Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, E...	OMIM:619605
Pendred Syndrome	Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp...	OMIM:609446
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower...	ORPHA:95433
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, EEG abnormality, Myoclonic absence seizure, Seizure	OMIM:612621
Epilepsy, Childhood Absence, Susceptibility To, 1	EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with...	OMIM:600131
Febrile Seizures, Familial, 8	EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with...	OMIM:607681
Epilepsy, Familial Adult Myoclonic, 5	Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensory seizure...	OMIM:615400
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c...	OMIM:607631
Juvenile Absence Epilepsy	EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t...	ORPHA:1941
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Lissencephaly 10	Atypical absence seizure, EEG abnormality, Atonic seizure, Focal impaired awareness seizure, Toni...	OMIM:618873
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi...	OMIM:303110
Epilepsy, Familial Temporal Lobe, 8	Focal impaired awareness seizure, Deja vu aura, Focal aware cognitive seizure with forced thinkin...	OMIM:616461
Usher Syndrome Type 1	Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn...	ORPHA:231169
Epilepsy, Progressive Myoclonic, 6	Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, Bilateral...	OMIM:614018
Seizures, Benign Familial Infantile, 1	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Normal interic...	OMIM:601764
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Dravet Syndrome	Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G...	OMIM:607208
Succinic Semialdehyde Dehydrogenase Deficiency	Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure	ORPHA:22
New-Onset Refractory Status Epilepticus	Status epilepticus, EEG with spike-wave complexes, Focal impaired awareness seizure, Focal aware ...	ORPHA:363558
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilatera...	ORPHA:101071
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Bilateral tonic-clonic seizure, Seizure	OMIM:608762
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu...	OMIM:619157
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia	ORPHA:231183
Episodic Ataxia, Type 5	Typical absence seizure, Atypical absence seizure, EEG with spike-wave complexes, Myoclonus, EEG ...	OMIM:613855
Epilepsy, Progressive Myoclonic, 8	EEG with photoparoxysmal response, Myoclonus, Bilateral tonic-clonic seizure, Action myoclonus	OMIM:616230
Deafness, Autosomal Dominant 80	Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab...	OMIM:619274
Developmental And Epileptic Encephalopathy 99	Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep...	OMIM:619606
Branchiootic Syndrome 1	Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern...	OMIM:602588
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Status epilepticus, Clonic seizure, Hepatomegaly, Splenomegaly, Myoclonus, Bilateral tonic-clonic...	OMIM:610539
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca...	OMIM:607745
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Chorea, ...	ORPHA:382
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz...	ORPHA:65683
Yoon-Bellen Neurodevelopmental Syndrome	Status epilepticus, Infantile spasms, Generalized myoclonic-atonic seizure, Bilateral tonic-cloni...	OMIM:619701
Myoclonic Epilepsy Of Infancy	Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexes, Myoclonus...	ORPHA:86909
Mohr-Tranebjaerg Syndrome	Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ...	ORPHA:52368
Generalized Epilepsy With Febrile Seizures-Plus	Status epilepticus, Atonic seizure, Focal impaired awareness seizure, EEG with spike-wave complex...	ORPHA:36387
Developmental And Epileptic Encephalopathy 6B	Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Myoc...	OMIM:619317
Developmental And Epileptic Encephalopathy 9	Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure...	OMIM:300088
Pontocerebellar Hypoplasia, Type 14	Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Chronic neutropenia, Focal-o...	OMIM:619301
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizur...	ORPHA:79137
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath...	OMIM:617519
17Q24.2 Microdeletion Syndrome	Otosclerosis, Microtia, Recurrent otitis media, Progressive conductive hearing impairment, Seizure	ORPHA:529962
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonus, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure	OMIM:162350
Pontocerebellar Hypoplasia, Type 15	Infantile spasms, Myoclonic seizure, Chronic neutropenia, Bilateral tonic-clonic seizure, Focal-o...	OMIM:619302
Progressive Myoclonic Epilepsy Type 3	EEG with focal epileptiform discharges, Myoclonus, Limb myoclonus, Febrile seizure (within the ag...	ORPHA:263516
Unilateral Focal Polymicrogyria	EEG with frontal focal spikes, Focal motor seizure, EEG with parietal focal spikes, Focal impaire...	ORPHA:268947
Non-Syndromic Genetic Deafness	Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari...	ORPHA:87884
Episodic Ataxia, Type 9	Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure	OMIM:618924
Developmental And Epileptic Encephalopathy 11	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:613721
Episodic Ataxia Type 4	Vertigo, Ataxia, Abnormal head movements	ORPHA:79136
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 103	Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Continuous spike and ...	OMIM:619913
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito...	OMIM:601455
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Diabetes Mellitus, Permanent Neonatal, 2	Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Myoclonic seizur...	OMIM:618856
Salt And Pepper Developmental Regression Syndrome	Status epilepticus, Multifocal epileptiform discharges, Myoclonus, Bilateral tonic-clonic seizure	OMIM:609056
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
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Ceroid Lipofuscinosis, Neuronal, 3	Myoclonus, Bilateral tonic-clonic seizure, Vacuolated lymphocytes, Seizure	OMIM:204200
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bilateral tonic-clonic seizure, EEG abnormality, Myoclonic absence seizure, Generalized myoclonic...	OMIM:617836
Rasmussen Subacute Encephalitis	EEG with focal spikes, Focal motor seizure, Bilateral tonic-clonic seizure with generalized onset...	ORPHA:1929
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel...	OMIM:618357
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori...	OMIM:125250
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media	OMIM:616941
Female Restricted Epilepsy With Intellectual Disability	Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene...	ORPHA:101039
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:603909
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, Familial Adult Myoclonic, 2	EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize...	OMIM:607876
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic status epilepticus, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure,...	OMIM:611726
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Status epilepticus, EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic sei...	OMIM:613970
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor symptoms, F...	OMIM:204300
Fragile X Syndrome	Seizure, Abnormal head movements, Macrotia	OMIM:300624
Glycosylphosphatidylinositol Biosynthesis Defect 15	EEG abnormality, Atonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized n...	OMIM:617810
Developmental And Epileptic Encephalopathy 24	Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3...	OMIM:615871
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Decreased nerve co...	ORPHA:580
Succinic Semialdehyde Dehydrogenase Deficiency	Status epilepticus, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizur...	OMIM:271980
Abcd Syndrome	Polycythemia, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Tota...	OMIM:600501
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Bilateral tonic-clonic seizure, Seizure	OMIM:601217
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
Pendred Syndrome	Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th...	ORPHA:705
Xq21 Microdeletion Syndrome	Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata...	ORPHA:1435
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 Spastic Ataxia Type 1	Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky head movements, Difficulty wa...	ORPHA:251282
Deafness, Autosomal Dominant 41	Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment	OMIM:608224
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:616685
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Otitis media, Decreased specific antibody ...	ORPHA:70593
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
Charcot-Marie-Tooth Disease, Type 4C	Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa...	OMIM:601596
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Papilledema, Optic...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Papilledema, Optic...	ORPHA:217093
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
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
Developmental And Epileptic Encephalopathy 4	Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Epileptic spasm, EE...	OMIM:612164
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure	OMIM:617709
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, EEG with focal spike waves, Generalized my...	ORPHA:352582
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure	ORPHA:208441
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec...	OMIM:613500
Epilepsy, Familial Focal, With Variable Foci 4	Clonic seizure, Focal impaired awareness seizure, Simple febrile seizure, Bilateral tonic-clonic ...	OMIM:617935
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Bilateral tonic-clonic seizure	OMIM:619639
Developmental And Epileptic Encephalopathy 34	Status epilepticus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Fo...	OMIM:616645
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Status epilepticus, Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral to...	ORPHA:330050
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly, Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalize...	OMIM:615637
Late Infantile Neuronal Ceroid Lipofuscinosis	EEG with photoparoxysmal response, Typical absence seizure, Cortical myoclonus, Atonic seizure, E...	ORPHA:168491
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Status epilepticus wit...	ORPHA:363549
Developmental And Epileptic Encephalopathy 90	Focal impaired awareness seizure, EEG with burst suppression, Bilateral tonic-clonic seizure, Hyp...	OMIM:301058
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Abnormal peripheral action potential amplitude, Decreased nerve c...	ORPHA:457205
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ...	OMIM:614470
Huntington Disease-Like 1	Cerebral cortical atrophy, EEG abnormality, Dysmetria, Jerky head movements, Chorea, Gait disturb...	ORPHA:157941
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Atonic seizure, Seizure	OMIM:309530
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Atypical absence seizure, Focal impaired awareness seizure, Continuous spike and waves during slo...	OMIM:619428
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega...	OMIM:607594
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:613060
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Focal motor status epilepticus, Tonic seizure, Generalized myoclonic seizure, Bilat...	OMIM:619881
Epilepsy, Familial Temporal Lobe, 2	Focal impaired awareness seizure, Focal aware seizure, Febrile status epilepticus, Febrile seizur...	OMIM:608096
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	EEG abnormality, Convulsive status epilepticus, Focal-onset seizure	OMIM:618760
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Rare Non-Syndromic Intellectual Disability	Bilateral tonic-clonic seizure, Seizure	ORPHA:101685
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
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
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of class-s...	OMIM:618944
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B...	ORPHA:277
Myoclonic Epilepsy, Familial Infantile	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:605021
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:300388
Rolandic Epilepsy	Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a...	ORPHA:1945
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Focal impaired awareness seizure, Generalized myoclonic seizure, EEG with generalized epileptifor...	ORPHA:1947
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea	OMIM:616939
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	EEG with focal spikes, Bilateral tonic-clonic seizure, Seizure	ORPHA:488635
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset, Hepatomegaly	ORPHA:158
Clcn4-Related X-Linked Intellectual Disability Syndrome	EEG with focal spikes, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral t...	ORPHA:485350
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Developmental And Epileptic Encephalopathy 37	Myoclonus, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Multifocal seizures	OMIM:616981
Dk1-Cdg	Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, Focal-onset seizure, Multifocal...	ORPHA:91131
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment	OMIM:184460
Acquired Partial Lipodystrophy	Hearing impairment, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
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
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Otitis media	OMIM:601457
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen...	OMIM:619616
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Acroparesthesia, Decr...	ORPHA:206443
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Symphalangism, Proximal, 1A	Stapes ankylosis, Conductive hearing impairment	OMIM:185800
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport...	ORPHA:2442
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy	Bilateral tonic-clonic seizure	OMIM:608278
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure	OMIM:104290
Intellectual Developmental Disorder, Autosomal Recessive 44	Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:615942
Autosomal Dominant Optic Atrophy Plus Syndrome	Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis...	ORPHA:1215
Autosomal Dominant Non-Syndromic Intellectual Disability	Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ...	ORPHA:178469
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to...	OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized...	OMIM:607628
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Charcot-Marie-Tooth Disease Type 1F	Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, I...	ORPHA:101085
Epilepsy, Familial Temporal Lobe, 6	Status epilepticus, Focal impaired awareness seizure, Focal aware seizure, Bilateral tonic-clonic...	OMIM:615697
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Bilateral tonic-clonic seizure	OMIM:618425
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Status epilepticus, Bilateral tonic-clonic seizure, EEG abnormality, Seizure	ORPHA:529665
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bilateral tonic-clonic seizure, Generalized-onset seizure, EEG with generalized epileptiform disc...	OMIM:619827
Hermansky-Pudlak Syndrome 10	EEG abnormality, Hepatomegaly, Splenomegaly, Bilateral tonic-clonic seizure, Focal myoclonic seiz...	OMIM:617050
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Dentici-Novelli Neurodevelopmental Syndrome	Bilateral tonic-clonic seizure, Myoclonic seizure, Epileptic spasm, Hypsarrhythmia	OMIM:619877
Beckwith-Wiedemann Syndrome	Posterior helix pit, Wide anterior fontanel, Otosclerosis, Anterior creases of earlobe, Abnormal ...	ORPHA:116
Epilepsy, Progressive Myoclonic, 12	Myoclonus, Bilateral tonic-clonic seizure	OMIM:619191
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Focal impaired awareness seizure, Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizur...	OMIM:619983
Huntington Disease-Like 3	Broad-based gait, Cerebral cortical atrophy, Chorea, Progressive gait ataxia, Seizure, Abnormal h...	ORPHA:157946
Bilateral Generalized Polymicrogyria	Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo...	ORPHA:208447
Bor Syndrome	Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex...	ORPHA:107
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,...	ORPHA:98795
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Myoclonus, Bilateral tonic-clonic seizure, EEG abnormality, Generalized myoclonic seizure	ORPHA:313772
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	EEG abnormality, Focal impaired awareness seizure, EEG with generalized epileptiform discharges, ...	ORPHA:488613
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc...	ORPHA:3261
Acrocraniofacial Dysostosis	Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab...	OMIM:201050
3-Methylglutaconic Aciduria, Type Viia	Atypical absence seizure, Anisopoikilocytosis, Myoclonic seizure, Bilateral tonic-clonic seizure,...	OMIM:619835
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Ogden Syndrome	Cerebral atrophy, Shuffling gait, Abnormal head movements, Macrotia, Low-set ears	ORPHA:276432
Adult-Onset Autosomal Dominant Leukodystrophy	Sensorineural hearing impairment, Ataxia, Dysmetria, Abnormal autonomic nervous system physiology...	ORPHA:99027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Head titubation, Diffuse cerebral atro...	ORPHA:3240
Severe Canavan Disease	Bilateral tonic-clonic seizure, Seizure	ORPHA:314911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ...	OMIM:618986
Cataracts, Spastic Paraparesis, And Speech Delay	Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com...	OMIM:619338
Foxg1 Syndrome	Status epilepticus, Myoclonus, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure	ORPHA:561854
Sulfite Oxidase Deficiency, Isolated	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	OMIM:272300
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Bilateral tonic-clonic seizure	OMIM:619065
Cerebral Creatine Deficiency Syndrome 2	Atonic seizure, Myoclonus, Febrile seizure (within the age range of 3 months to 6 years), Bilater...	OMIM:612736
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Hypoplasia of the ...	OMIM:609136
Behavioral Variant Of Frontotemporal Dementia	EEG with continuous slow activity, Bilateral tonic-clonic seizure	ORPHA:275864
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
Brain Small Vessel Disease 2	Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:614483
Canavan Disease	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Epileptic spasm, Hypsarrhythmia	OMIM:271900
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen...	OMIM:619846
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	EEG with focal spikes, Increased theta frequency activity in EEG, Nocturnal seizures, Bilateral t...	ORPHA:98784
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ...	ORPHA:100024
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-clonic seizure, Seizure...	ORPHA:544503
Mitochondrial Complex I Deficiency, Nuclear Type 15	Bilateral tonic-clonic seizure	OMIM:618237
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnor...	OMIM:602450
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu...	OMIM:611584
Developmental And Epileptic Encephalopathy 61	Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:617933
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Ataxia, Brain atrophy, Cerebral atrophy, Optic disc pallor, Abn...	OMIM:619260
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Progressi...	ORPHA:247815
Branchiogenic Deafness Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor...	ORPHA:50815
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure	OMIM:616281
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Bilateral tonic-clonic seizure...	OMIM:169400
Agammaglobulinemia 9, Autosomal Recessive	Sensorineural hearing impairment, Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy...	ORPHA:79124
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Bilateral tonic-clonic seizure, Hepatic steatosis, Hepatomegaly	ORPHA:369840
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure	OMIM:620028
Lafora Disease	Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a...	ORPHA:501
Adult Krabbe Disease	Broad-based gait, Ataxia, Acroparesthesia, EEG abnormality, Gait disturbance, Somatic sensory dys...	ORPHA:206448
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Myoclonic spasms, Interictal EEG abnormality, Seizure	ORPHA:79264
Alpers-Huttenlocher Syndrome	Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure	ORPHA:726
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness of neck muscles, Hepatomegaly, Fatigable weakness, Febrile seizure (within the...	ORPHA:42
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)...	OMIM:619854
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	EEG abnormality, EEG with frontal sharp slow waves, Generalized myoclonic seizure, Infantile spas...	ORPHA:457351
Autosomal Dominant Spastic Paraplegia Type 6	Bilateral tonic-clonic seizure	ORPHA:100988
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
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Combined Oxidative Phosphorylation Deficiency 27	Status epilepticus, Microvesicular hepatic steatosis, Myoclonus, Bilateral tonic-clonic seizure, ...	OMIM:616672
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I...	OMIM:308240
Primary Dystonia, Dyt13 Type	Jerky head movements	ORPHA:98807
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure	OMIM:203740
Intellectual Developmental Disorder, X-Linked 30	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure	OMIM:300558
Mogs-Cdg	Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased circulating IgA ...	ORPHA:79330
Childhood Absence Epilepsy	Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Febrile seiz...	ORPHA:64280
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Bilateral tonic-clonic seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Seizure	ORPHA:464282
Pyruvate Dehydrogenase E1-Alpha Deficiency	EEG with focal spikes, EEG with focal sharp waves, Infantile spasms, Bilateral tonic-clonic seizu...	ORPHA:79243
D-Glyceric Aciduria	Status epilepticus, Focal clonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Hypsarrhythm...	OMIM:220120
Immunodeficiency 98 With Autoinflammation, X-Linked	Neutropenia, Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lym...	OMIM:301078
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Jerky head movements, Limb myoclonus	ORPHA:240103
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat...	ORPHA:514
Branchiootorenal Syndrome 1	Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana...	OMIM:113650
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge...	ORPHA:529808
Sarcosinemia	Bilateral tonic-clonic seizure	ORPHA:3129
Intellectual Developmental Disorder, Autosomal Dominant 42	Status epilepticus, Focal impaired awareness seizure, Infantile spasms, EEG with burst suppressio...	OMIM:616973
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Gorham-Stout Disease	Hearing impairment, Lymphangioma, Abnormality of the internal auditory canal	ORPHA:73
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Acute otitis media, Decreased lymphocyte proliferation in response to mitogen, Lack of T cell fun...	ORPHA:35078
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Ataxia, Jerky head movements	OMIM:245348
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Bilateral tonic-clonic seizure, Multifocal seizures, Generalized non-motor (absence) seizure, Sei...	OMIM:618170
Infantile Krabbe Disease	Decreased nerve conduction velocity, Generalized myoclonic seizure, Myoclonus, Optic atrophy, Dif...	ORPHA:206436
Cntnap2-Related Developmental And Epileptic Encephalopathy	EEG with focal spikes, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, EEG with ge...	ORPHA:163681
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure	ORPHA:53583
Spinocerebellar Ataxia 48	Bilateral tonic-clonic seizure	OMIM:618093
Spastic Ataxia 5, Autosomal Recessive	Myoclonus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure	OMIM:614487
Congenital Insensitivity To Pain With Severe Intellectual Disability	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	ORPHA:453510
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure	OMIM:540000
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ...	OMIM:616005
Early Infantile Epileptic Encephalopathy	EEG abnormality, Atonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo...	ORPHA:1934
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Bilateral tonic-clonic seizure	OMIM:619278
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Apert Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn...	ORPHA:87
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Bilateral tonic-clonic seizure, Neutropenia	OMIM:608809
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, EEG with spike-wave complexes, Generalized myoclonic seizure, Generalized tonic sei...	ORPHA:369837
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Gait disturbance, Optic atrophy, Difficulty walking,...	ORPHA:90321
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Lymphocytosis, Leuk...	OMIM:619652
Arthrogryposis, Distal, Type 2A	Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials, Seizure	OMIM:193700
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Low-set ears, Seizure	OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 45	Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G...	OMIM:617600
Developmental And Epileptic Encephalopathy 100	EEG with photoparoxysmal response, Typical absence seizure, Tonic seizure, Hemangioma, Myoclonus,...	OMIM:619777
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula...	ORPHA:86843
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Focal motor seizure, Bilateral tonic-clonic seizure, Seizure	OMIM:619911
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sensorineural hearing impairment, Cerebral atrophy, Splenomegaly, Hypochromic microcytic anemia, ...	OMIM:616084
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:300755
Amish Lethal Microcephaly	Bilateral tonic-clonic seizure, Hepatomegaly	ORPHA:99742
Multiple Synostoses Syndrome 1	Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Waddlin...	OMIM:186500
Angelman Syndrome	Status epilepticus, Atypical absence seizure, EEG abnormality, Atonic seizure, Generalized myoclo...	ORPHA:72
Developmental And Epileptic Encephalopathy 95	Status epilepticus, Hepatomegaly, EEG with burst suppression, Bilateral tonic-clonic seizure, Sei...	OMIM:618143
Japanese Encephalitis	Status epilepticus, Focal motor seizure, EEG abnormality, Neutrophilia, Decreased motor nerve con...	ORPHA:79139
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Seizure	ORPHA:457240
X-Linked Intellectual Disability, Hedera Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:93952
Intellectual Developmental Disorder, X-Linked 98	Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm...	OMIM:300912
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure	OMIM:619356
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Abnormality of the lymph nodes, Lymphoproliferative disorder, Eosinophilia, Hepato...	ORPHA:911
X-Linked Non-Syndromic Intellectual Disability	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure	ORPHA:777
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure	OMIM:618120
D-Bifunctional Protein Deficiency	Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Cholestasis, Bilateral tonic-clo...	OMIM:261515
Schinzel-Giedion Syndrome	Large earlobe, Wide anterior fontanel, Cerebral cortical atrophy, Abnormal helix morphology, Infa...	ORPHA:798
Trisomy 10P	EEG with focal spikes, Abnormality of the ear, Focal clonic seizure, EEG with burst suppression, ...	ORPHA:171929
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Bilateral t...	ORPHA:79351
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Bilateral tonic-clonic seizure, Hepat...	OMIM:201475
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Bilateral tonic-clonic seizure	ORPHA:199354
Intellectual Developmental Disorder, Autosomal Dominant 53	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE...	OMIM:617798
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral tonic-clon...	ORPHA:247262
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Sandhoff Disease	Hepatosplenomegaly, Bilateral tonic-clonic seizure, Hepatomegaly, Myoclonic seizure	OMIM:268800
X-Linked Intellectual Disability Due To Gria3 Mutations	Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Seizure	ORPHA:364028
Epilepsy, Early-Onset, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased ci...	OMIM:601495
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
Neuromuscular Oculoauditory Syndrome	Decreased amplitude of sensory action potentials, Bilateral tonic-clonic seizure, Infantile spasm...	OMIM:618733
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Focal impaired awareness seizure, Generalized myoclonic seizure, Generalized tonic seizure, Infan...	ORPHA:480864
Melas	EEG abnormality, Myoclonus, Bilateral tonic-clonic seizure, Recurrent pancreatitis, Focal-onset s...	ORPHA:550
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus	OMIM:619725
Cerebrotendinous Xanthomatosis	Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ...	ORPHA:909
Cockayne Syndrome A	Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Hepatomega...	OMIM:216400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Seizure	ORPHA:369929
Myoclonic Epilepsy Of Lafora	Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ...	OMIM:254780
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Bilateral tonic-clonic seizure, Focal myoclonic seizure, Seizure	ORPHA:481152
Lujo Hemorrhagic Fever	Lymphopenia, Leukocytosis, Leukopenia, Fulminant hepatitis, Bilateral tonic-clonic seizure, Seizu...	ORPHA:319213
Ritscher-Schinzel Syndrome 4	Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:619435
Bilateral Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Generalized-onse...	ORPHA:268940
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se...	ORPHA:435638
Cockayne Syndrome B	Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc...	OMIM:133540
Mend Syndrome	Low-set ears, Wide anterior fontanel, Abnormal auditory evoked potentials, Seizure	ORPHA:401973
Noonan Syndrome	Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ...	ORPHA:648
Molybdenum Cofactor Deficiency, Complementation Group C	Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized myoclonic seizure	OMIM:615501
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:620024
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Generalized tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm, Seizure	OMIM:617193
Mosaic Variegated Aneuploidy Syndrome 1	Generalized myoclonic seizure, Nephroblastoma, Rhabdomyosarcoma, Bilateral tonic-clonic seizure, ...	OMIM:257300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Bilateral tonic-clonic seizure, Prolonged neonatal jaundice	ORPHA:423479
Migraine, Familial Hemiplegic, 2	Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:602481
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	ORPHA:395
Intellectual Developmental Disorder, Autosomal Dominant 54	Atonic seizure, Neutropenia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Se...	OMIM:617799
Sandifer Syndrome	Anemia, Abnormal head movements	ORPHA:71272
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure	ORPHA:79350
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Bilateral tonic-clonic seizure...	OMIM:301040
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath...	OMIM:608643
Nivelon-Nivelon-Mabille Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:600092
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Jaberi-Elahi Syndrome	Bilateral tonic-clonic seizure	OMIM:617988
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Biotinidase Deficiency	Focal motor seizure, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seiz...	ORPHA:79241
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Leigh Syndrome With Nephrotic Syndrome	EEG with focal spikes, Bilateral tonic-clonic seizure with focal onset	ORPHA:255249
W Syndrome	Bilateral tonic-clonic seizure	ORPHA:2804
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms, Hypsarrhythmia	ORPHA:447997
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:615802
Craniosynostosis And Dental Anomalies	Conductive hearing impairment, Stapes ankylosis, Papilledema, Absent malleus, Chronic otitis medi...	OMIM:614188
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Lipoma, Generalized tonic seizure, Increased theta frequency activity in EEG, Febrile seizure (wi...	ORPHA:459070
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	EEG abnormality, Infantile spasms, Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Focal...	OMIM:301044
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
Fatty Acid Hydroxylase-Associated Neurodegeneration	Bilateral tonic-clonic seizure, Focal-onset seizure	ORPHA:329308
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy	OMIM:617718
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Generalized myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Se...	ORPHA:255210
Charge Syndrome	Hypoplasia of the semicircular canal, Microtia, Overfolded helix, Facial palsy, External ear malf...	ORPHA:138
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
Gaucher Disease	Hepatomegaly, Generalized myoclonic seizure, Splenomegaly, Cirrhosis, Hepatitis, Bilateral tonic-...	ORPHA:355
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Weaver Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure	OMIM:277590
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Mitochondrial Complex I Deficiency, Nuclear Type 1	Bilateral tonic-clonic seizure, Hepatomegaly, Splenomegaly	OMIM:252010
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Bilateral tonic-clonic seizure	OMIM:615474
Alternating Hemiplegia Of Childhood	Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure, Seizure	ORPHA:2131
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Kinsship Syndrome	Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset s...	OMIM:619297
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Holoprosencephaly 14	Bilateral tonic-clonic seizure, EEG abnormality	OMIM:619895
De Sanctis-Cacchione Syndrome	Melanoma, Bilateral tonic-clonic seizure	OMIM:278800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
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
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Reduced pancreatic beta cells, Bilateral tonic-clonic seizure, Generalized...	ORPHA:99885
Cocaine Intoxication	Status epilepticus, Atypical absence status epilepticus, Bilateral tonic-clonic seizure, Focal-on...	ORPHA:90068
Norrie Disease	Sensorineural hearing impairment, Protruding ear, Cerebral cortical atrophy, Abnormal helix morph...	ORPHA:649
Nk-Cell Enteropathy	Intestinal polyp, Lymphoproliferative disorder, Increased T cell count	ORPHA:263665
Doors Syndrome	EEG abnormality, Focal impaired awareness seizure, Myoclonus, Thrombocytosis, Bilateral tonic-clo...	ORPHA:79500
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bilateral tonic-clonic seizure, Generalized-onset seizure, Atonic seizure	OMIM:620066
Generalized Arterial Calcification Of Infancy	Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Calcification ...	ORPHA:51608
Choreoacanthocytosis	Hepatomegaly, Splenomegaly, Abnormal erythrocyte enzyme level, Acanthocytosis, Decreased amplitud...	ORPHA:2388
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure, Tonic seizure	OMIM:619512
Ogden Syndrome	Microvesicular hepatic steatosis, Polycythemia, Macrovesicular hepatic steatosis, Iron deficiency...	OMIM:300855
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hepatic calcification, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Hallermann-Streiff Syndrome	Bilateral tonic-clonic seizure	OMIM:234100
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
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Seizure	ORPHA:488627
Sotos Syndrome	Neoplasm, Prolonged neonatal jaundice, Focal impaired awareness seizure, Generalized myoclonic se...	ORPHA:821
Asparagine Synthetase Deficiency	Exaggerated startle response	OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
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
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Charge Syndrome	Sensorineural hearing impairment, Low-set ears, Aplasia of the semicircular canal, Microtia, Cupp...	OMIM:214800
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure	ORPHA:457359
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Orofaciodigital Syndrome Type 2	Hamartoma of tongue, 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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Seizure	OMIM:614756
Sarcoidosis	Hepatomegaly, Abnormality of the lymph nodes, Hypopigmentation of the skin, Eosinophilia, Leukope...	ORPHA:797
Kabuki Syndrome 1	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Autoimmune thr...	OMIM:147920
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Chordee, Exaggerated startle response	OMIM:619522

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