All individuals with variants in gene CHD2

41 entries on 1 page. Showing entries 1 - 41.
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00050490 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, generalized tonic-clonic seizures, focal seizures with impairment of consciousness or awareness, brachycephaly, micropenis, generalized hypotonia, generalized joint laxity 1 1 Johan den Dunnen
00050714 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, generalized seizures, abnormal facial shape, upslanted palpebral fissure, gait ataxia 1 1 Johan den Dunnen
00080924 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - EEOC Epileptic encephalopathy, childhood-onset (OMIM:615369) 1 1 Daniel Trujillano
00116811 S_12:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116852 S_193:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116994 S_518:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117001 S_528:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117052 S_621:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 2 1 Dheeraj Bobbili
00117069 S_663:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117091 S_710:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00248139 - - - M - - - - - - - - HP:0002373 (Febrile seizures) 1 1 Andreas Laner
00266172 - - - F - - - - - - - - Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Absence seizures (HP:0002121) 1 1 Andreas Laner
00291348 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00299440 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Generalized tonic-clonic seizures (HP:0002069); Status epilepticus (HP:0002133); Focal seizures (HP:0007359) 1 1 Andreas Laner
00302783 1396.504 PubMed: Hamdan 2015 - F - Canada - - - - - ID severe intellectual disability; speech 80 words, 4y-no 2 words together; walk-18m; no epilepsy; no autistic features; acquired microcephaly; no macrocephaly; CT brain normal; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities 1 1 Johan den Dunnen
00302977 Pat22 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00302978 Pat23 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Childhood Onset; age onset childhood 1 1 Johan den Dunnen
00303094 T38 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE seizures atonic (12m), febrile seizure, absence, myoclonic jerks-atonic, myoclonic jerks, tonic-clonic; EEG 3.8 Hz generalised spike wave; development prior to seizures mild delay, behavioral problems; moderate intellectual disability, autism spectrum disorder, no regression 1 1 Johan den Dunnen
00303095 T18697 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE seizures myoclonic jerks (12m), non-convulsive status epilepticus, tonic, tonic-clonic, myocloninc absence; EEG generalised polyspike wave, multi-focal discharges, generalised paroxysmal fast activity, single spike wave; development prior to seizures normal; severe intellectual disability, regression 1 1 Johan den Dunnen
00303096 T2608 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE seizures atypical absence (12m), atonic, myoclonic jerks, non-convulsive status epilepticus, status epilepticus, tonic, tonic-clonic; EEG single spike wave, multi-focal discharges, diffuse slowing, generalised polyspike wave, PPR triggered myoclonic jerks; development prior to seizures delayed; severe intellectual disability, regression 1 1 Johan den Dunnen
00303097 T20240 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE seizures atonic (2y) myoclonic jerks, status epilepticus, tonic-clonic; EEG diffuse slowing, generalised polyspike wave, 2.5 Hz generalised spike wave; development prior to seizures normal; severe intellectual disability, regression 1 1 Johan den Dunnen
00303098 T17756 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE seizures tonic-clonic (3y) focal dyscognitive seizures, hemiclonic, myoclonic jerks; EEG generalised spike wave, multi-focal discharges, diffuse slowing; development prior to seizures delayed; moderate intellectual disability, regression 1 1 Johan den Dunnen
00303099 T18431 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE seizures focal dyscognitive seizures, myoclonic jerks (2.5y) myoclonic jerks-absence, tonic; EEG generalised spike wave, generalised polyspike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression 1 1 Johan den Dunnen
00305973 Pat4 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00305974 Pat5 PubMed: Johannesen 2020, PubMed: Moller 2016 2-generation family, 1 affected, unaffected parents M - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00308038 Pat17 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - ? severe global developmental delay, hypo‧tonia, hearing and vision deficiencies 1 1 Johan den Dunnen
00320142 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Attention deficit hyperactivity disorder (HP:0007018); Thyroid agenesis (HP:0008191); Tall stature (HP:0000098); Macrocephaly (HP:0000256) 1 1 IMGAG
00334913 PME11 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - epilepsy Onset age 6 of frequent absence seizures, occasional TCS and myoclonus on background of developmental delay. Severe, progressive myoclonus, ataxia and cognitive decline from age 15. Abnormal eye movements and mild extrapyramidal signs noted. History of psychosis and autism. EEG: GSW and PPR. 1 1 Carolina Courage
00362027 PME48 PubMed: Courage 2021, Journal: Courage 2021 - - - - - - - - - epilepsy - 1 1 Johan den Dunnen
00374245 S-6496 PubMed: Ganapathy 2019 - - - India - - - - - ? Delay in milestones and complex partial seizures 1 1 Johan den Dunnen
00374688 S-4228 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00391871 095P - - F no Spain - - - - - EEOC - 1 1 Alejandro Brea-Fernández
00427797 Pat101 PubMed: Zhou 2018 - F - China - - - - - epilepsy intellectual disability; febrile seizures, tonic, generalized tonic-clonic, frequency 5-6/d; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs 1 1 Johan den Dunnen
00434903 - - - - - - - - - - - ID - 1 1 Marketa Wayhelova
00438347 Pat65 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures 1 1 Johan den Dunnen
00438356 Pat74 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures 1 1 Johan den Dunnen
00455823 Pat63 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00457963 Pat1 PubMed: Ganesh 2024 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - NDD see paper; ..., 37w-birth weight 3.4 kg (60th), length 47 cm (15th), OFC 35 cm (75th); 2y-weight 10.1 kg (17th), height 74.5 cm (<1st), OFC 44.8 cm (1st); facial dysmorphisms; EEG 1m-normal, 4y-epileptiform discharges (generalized polyspike-and-wave); EEG background slowing, 4y-rhythmic delta slowing; 15m-infantile spasms, myoclonic seizures; no photosensitive seizures, no generalized tonic-clonic seizures; MRI brain cortical atrophy, optic nerve atrophy, cerebral hypomyelination, thin corpus callosum; severe global developmental delay; severe intellectual disability; <1m- first neurodevelopmental symptoms/delay; 7y-not able to communicate with words, not able to walk independently, not able to grasp small objects, not able to use spoon/fork, not able to drink from cup, not able to dress 1 1 Johan den Dunnen
00458041 - - - M - - (not applicable) white - - - - NDD HP:0001256, HP:0001513 1 1 Marketa Wayhelova
00465962 - - - M - - (not applicable) - - - - - NDD HP:0011481, HP:0002376, HP:0001249 1 1 Marketa Wayhelova
00468745 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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