All individuals with variants in gene WWOX

26 entries on 1 page. Showing entries 1 - 26.
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00080800 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - EIEE28 Epileptic encephalopathy, early infantile, 28, Autosomal recessive (OMIM:616211) 2 1 Daniel Trujillano
00080822 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - EIEE28 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
00408089 93 PubMed: Alabdullatif 2017 - M yes United Arab Emirates - - 0 - - retinal disease 10 months old male infant was born at term via C-section due to fetal distress. At birth he developed respiratory distress and was admitted to NICU where he was initially diagnosed to have meconium aspiration and required respiratory support. He spent 6 months in NICU. He also had feeding difficulties needed nasogastric then gastrostomy tube feeding, clonic seizures noticed at the age of 2 months, respiratory failure required respiratory support via tracheostomy, clubfeet, hearing impairment, spasticity, patent ductus arteriosus, patent foramen ovale, polymicrogyria, dysplastic corpus callosum, developmental delay, and distinctive facial features (hypertelorism, depressed nasal bridge, small nose, and micrognathia). He had normal growth parameters. Parents were cousins, and he was the only child for them. 1 1 LOVD
00415077 Pat14 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - M - - - - 0 - - NDD - 1 1 Johan den Dunnen
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