All individuals with variants in gene WWOX

24 entries on 1 page. Showing entries 1 - 24.
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00080800 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - EIEE-28 Epileptic encephalopathy, early infantile, 28, Autosomal recessive (OMIM:616211) 2 1 Daniel Trujillano
00080822 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - EIEE-28 Epileptic encephalopathy, early infantile, 28 (OMIM:616211) 1 1 Daniel Trujillano
00116870 S_237:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116878 S_259:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116883 S_271:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116897 S_298:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116906 S_316:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116938 S_4:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117005 S_545:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117031 S_589:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117073 S_670:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117076 S_674:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00180177 29286531-Pat29 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epileptic encephalopathy (HP:0200134), (severe) infantile muscular hypotonia (HP:0008947). 2 1 Johan den Dunnen
00229779 FamFMTCE3/Fam3 PubMed: van Rootselaar 2017, PubMed: Florion 2019 5-generation family, 18 affected F;M no Netherlands - - 0 - - FAME see paper; ..., tremulous movements, either in combination with electrophysiologic features of cortical reflex myoclonus including giant-somatosensory evoked potential and long latency reflex, or in combination with history of generalized epileptic seizures, and exclusion of other causes of tremor/myoclonus/epilepsy 1 18 Johan den Dunnen
00291550 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 25 Mohammed Faruq
00291551 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 77 Mohammed Faruq
00291552 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291553 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 27 Mohammed Faruq
00301404 - - - M - (Germany) - - 0 - - ? Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Generalized hypotonia (HP:0001290); Epileptic encephalopathy (HP:0200134) 1 1 IMGAG
00304537 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304538 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00361576 11DG0502 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - ID syndromic; global developmental delay, dysmorphism and brain atrophy 1 1 Johan den Dunnen
00374536 S-5186 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Refractory epilepsy and developmental delay 1 1 Johan den Dunnen
00374887 S-222 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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