Phenotype: Tonic seizure (HP:0032792)
Associated genes and diseases:
gene_symbol: HCN2
disease_id: OMIM:602477
disease_name: FEBRILE SEIZURES, FAMILIAL, 2
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: PCDH19
disease_id: ORPHA:101039
disease_name: Female restricted epilepsy with intellectual disability
EFMR
Juberg-Hellman syndrome
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: STXBP1
disease_id: OMIM:612164
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
gene_symbol: GNAO1
disease_id: OMIM:615473
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17
gene_symbol: GNAO1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: CPLX1
disease_id: OMIM:617976
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63
gene_symbol: NECAP1
disease_id: OMIM:615833
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: PRRT2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ3
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ3
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CACNB4
disease_id: OMIM:607682
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
gene_symbol: COG2
disease_id: ORPHA:435934
disease_name: COG2-CDG
COG2-related congenital disorder of glycosylation
gene_symbol: COG2
disease_id: OMIM:617395
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
gene_symbol: VPS50
disease_id: OMIM:619685
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
gene_symbol: SLC1A2
disease_id: OMIM:617105
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: KCNT1
disease_id: OMIM:614959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
gene_symbol: TUBA1A
disease_id: OMIM:611603
disease_name: LISSENCEPHALY 3
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: SLC6A19
disease_id: OMIM:234500
disease_name: HARTNUP DISORDER
gene_symbol: ADGRV1
disease_id: OMIM:604352
disease_name: FEBRILE SEIZURES, FAMILIAL, 4
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: TANGO2
disease_id: ORPHA:480864
disease_name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
TANGO2-related metabolic encephalopathy-arrhythmia syndrome
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: CDKL5
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GABRB3
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: MAPK10
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: KARS1
disease_id: OMIM:619147
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
gene_symbol: EEF1A2
disease_id: OMIM:616393
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: GRIN2A
disease_id: ORPHA:289266
disease_name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: KCNA1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGQ
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC32A1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:208447
disease_name: Bilateral generalized polymicrogyria
gene_symbol: SLC25A22
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SIK1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CASK
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRM7
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PNKP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: NEUROD2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIA3
disease_id: OMIM:300699
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: KCNH5
disease_id: OMIM:620537
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112
gene_symbol: CLCN4
disease_id: ORPHA:485350
disease_name: CLCN4-related X-linked intellectual disability syndrome
Raynaud-Claes syndrome
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
gene_symbol: WDR45B
disease_id: OMIM:617977
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
gene_symbol: PIK3CA
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: AKT3
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: PURA
disease_id: ORPHA:314655
disease_name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
5q31.3 microdeletion syndrome
Del(5)(q31.3)
Monosomy 5q31.3
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
gene_symbol: PLPBP
disease_id: OMIM:617290
disease_name: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
gene_symbol: DMXL2
disease_id: OMIM:618663
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: CUX2
disease_id: OMIM:618141
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: KCNT2
disease_id: OMIM:617771
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57
gene_symbol: PACS2
disease_id: OMIM:618067
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: SZT2
disease_id: OMIM:615476
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: CUL3
disease_id: OMIM:619239
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: UFSP2
disease_id: OMIM:620028
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106
gene_symbol: ATP6V0C
disease_id: OMIM:620465
disease_name: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY
gene_symbol: FZR1
disease_id: OMIM:620145
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: ARX
disease_id: OMIM:308350
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
gene_symbol: D2HGDH
disease_id: OMIM:600721
disease_name: D-2-HYDROXYGLUTARIC ACIDURIA 1
gene_symbol: CEP85L
disease_id: OMIM:618873
disease_name: LISSENCEPHALY 10
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: STX1B
disease_id: OMIM:616172
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
gene_symbol: CENPE
disease_id: OMIM:616051
disease_name: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SYNJ1
disease_id: OMIM:617389
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53
gene_symbol: GABRG2
disease_id: OMIM:618396
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
gene_symbol: SLC38A3
disease_id: OMIM:619881
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102
gene_symbol: ST3GAL3
disease_id: OMIM:615006
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: CACNA1A
disease_id: OMIM:617106
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: SCN8A
disease_id: OMIM:614558
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
gene_symbol: ARFGEF1
disease_id: OMIM:619964
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: POMK
disease_id: OMIM:615249
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
gene_symbol: MAST3
disease_id: OMIM:620115
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108
gene_symbol: GABRA5
disease_id: OMIM:618559
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79
gene_symbol: PSAP
disease_id: OMIM:611722
disease_name: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
gene_symbol: GABBR2
disease_id: OMIM:617904
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59
gene_symbol: GRIA2
disease_id: OMIM:618917
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: NAPB
disease_id: OMIM:620033
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: HNRNPU
disease_id: OMIM:617391
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: PIGW
disease_id: OMIM:616025
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
gene_symbol: ATP6V0A1
disease_id: OMIM:619970
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: SCN2A
disease_id: OMIM:618924
disease_name: EPISODIC ATAXIA, TYPE 9
gene_symbol: SCN2A
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: DNM1
disease_id: OMIM:616346
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31
gene_symbol: ARHGEF9
disease_id: OMIM:300607
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: TSEN2
disease_id: OMIM:612389
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
gene_symbol: TBL1XR1
disease_id: OMIM:616944
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
gene_symbol: PCDH12
disease_id: OMIM:251280
disease_name: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
gene_symbol: DOCK7
disease_id: OMIM:615859
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
gene_symbol: NHLRC1
disease_id: OMIM:620681
disease_name: MYOCLONIC EPILEPSY OF LAFORA 2
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: LNPK
disease_id: OMIM:618090
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
gene_symbol: DENND5A
disease_id: OMIM:617281
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49
gene_symbol: KCNQ2
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: CACNA1B
disease_id: OMIM:618497
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
gene_symbol: HID1
disease_id: OMIM:619983
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM
gene_symbol: NSF
disease_id: OMIM:619340
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96
gene_symbol: PTPN23
disease_id: OMIM:618890
disease_name: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
gene_symbol: SQOR
disease_id: OMIM:619221
disease_name: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
gene_symbol: PHACTR1
disease_id: OMIM:618298
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
gene_symbol: FGF12
disease_id: OMIM:617166
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
gene_symbol: KCNQ5
disease_id: OMIM:617601
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
gene_symbol: PLCB1
disease_id: OMIM:613722
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: CNPY3
disease_id: OMIM:617929
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60
gene_symbol: SV2A
disease_id: OMIM:620772
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113