All individuals with variants in gene EIF2B2

12 entries on 1 page. Showing entries 1 - 12.
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00095914 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - NDHSAL developmental delay (HP:0001263), intellectual disability (HP:0001249), no autism (-HP:0000717), hypotonia (HP:0001252), sit unable, walk unable, EEG multifocal and generalised epileptiform and slow spike-wave discharges with diffuse background slowing, self-stimulatory rocking, sucking on fingers, choreiform movements, optic atrophy, cortical visual impairment, MRI-brain progressive cerebral atrophy with mild cerebellar loss, atrophy of visual pathways, several small arachnoid cysts G-tube fed, gastroparesis, constipation, hypotonic facies, highly arched palate, gracile bones, mild osteopenia throughout with no definite dysplasia, cardiomyopathy started prenatally, heart block, prolonged QT interval 1 1 Johan den Dunnen
00225528 - PubMed: 22285377 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225529 - PubMed: 21484434 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225530 - PubMed: 22729508 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225531 - PubMed: 12707859 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225532 - PubMed: 15776425 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225533 - PubMed: 15776425 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225534 - PubMed: 15776425 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225535 - PubMed: 11704758 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225536 - PubMed: 11704758 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00225537 - PubMed: 11704758 abstract - - - - - - 0 - - VWM - 1 1 SIB - Livia Famiglietti
00374308 S-2179 PubMed: Ganapathy 2019 - - - India - - 0 - - ? MRI of brain was suggestive of cystic leukoencephalopathy features suggestive of megalencephalic leukoencephalopathy or RNAase T2 deficiency cystic leukoencephalopathy 1 1 Johan den Dunnen
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