All individuals with variants in gene IFIH1

34 entries on 1 page. Showing entries 1 - 34.
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Age at death     

VIP     

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Owner     
00032346 - PubMed: Rutsch 2015, Journal: Rutsch 2015 5-generation family, 17 affecteds (8F, 9M) - - - - - 0 - - SGMRT-1 see paper; .. 1 17 Johan den Dunnen
00032347 - PubMed: Rutsch 2015, Journal: Rutsch 2015 2-generation family, 3 affecteds (1F, 2M) - no - - - 0 - - SGMRT-1 see paper; .. 1 3 Johan den Dunnen
00032348 - PubMed: Rutsch 2015, Journal: Rutsch 2015 2-generation family, 1 affected F no - - - 0 - - SGMRT-1 see paper; .. 1 1 Johan den Dunnen
00050357 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00050358 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00050359 - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 2 1 Johan den Dunnen
00111407 S_007 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - 0 - - AGS7 Initially normal development, regression, severe ID, spasticity, scoliosis, episodic icterus and skin swelling 1 1 Bernt Popp
00155022 - - - - - - - - 0 - - AGS7 Spasticity and intracranial calcification 1 1 Yanick Crow
00292300 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 51 Mohammed Faruq
00292301 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292302 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304705 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00334290 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334303 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334319 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334349 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334350 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334364 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334404 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334478 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334498 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334499 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334525 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334858 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334929 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335013 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335019 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335041 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00374237 S-4086 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Global developmental delay, microcephaly, spastic quadriparesis and failure to thrive, suspected of West syndrome 1 1 Johan den Dunnen
00374759 S-2047 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374760 S-84 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374761 S-4716 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374762 S-3729 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00375514 - - - M no Japan - - - - - AGS7 overlaps with Singleton-Merten syndrome type 1 1 1 Kosei Hasegawa
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