All individuals with variants in gene RNASEH2C

34 entries on 1 page. Showing entries 1 - 34.
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00058730 - {PMID16845400:Crow 2006} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058731 - {PMID16845400:Crow 2006} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058732 - {PMID17846997:Rice 2007} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058733 - {PMID17846997:Rice 2007} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058734 - {PMID17846997:Rice 2007} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058735 - {PMID17846997:Rice 2007} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058736 - {PMID17846997:Rice 2007} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058737 - {PMID17846997:Rice 2007} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058738 - {PMID 20131292:Ramantani 2010} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058739 - {PMID 20131292:Ramantani 2010} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058740 - {PMID 20131292:Ramantani 2010} - - - - - - - - - AGS - 1 1 Johan den Dunnen
00058759 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 2 3 Lampros Mavrogiannis
00058760 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 2 1 Lampros Mavrogiannis
00058761 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 1 1 Lampros Mavrogiannis
00058762 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 1 2 Lampros Mavrogiannis
00058763 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 2 1 Lampros Mavrogiannis
00058764 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 2 2 Lampros Mavrogiannis
00058765 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 2 1 Lampros Mavrogiannis
00058766 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS - 2 1 Lampros Mavrogiannis
00058804 - Prof. YJ Crow, Univ Manchester, unpublished - - ? - Turkish - - - - AGS - 1 2 Johan den Dunnen
00058805 - Prof. YJ Crow, Univ Manchester, unpublished - - - - - - - - - AGS - 2 1 Johan den Dunnen
00248824 Fam1 PubMed: Hebbar 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - AGS see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels 1 2 Johan den Dunnen
00248825 Fam2 PubMed: Hebbar 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - AGS see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels 1 2 Johan den Dunnen
00248826 Fam3 PubMed: Hebbar 2018 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - AGS see paper; …, intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, elevated interferon-α levels 1 2 Johan den Dunnen
00308028 Pat7 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Germany - - - - - ? severe global developmental delay, regression, movement disorder, myelinization disorder 1 1 Johan den Dunnen
00358884 RNASEH2C - - - - - - - - - - ? - 1 1 Muhammad Umair
00361906 - - - - - - - - - - - AGS, NDMSCA Global developmental delay, seizures, spasticity, microcephaly, T2W focal hyperintensities suggestive of calcifications on MRI 1 1 Anju Shukla
00374456 S-1987 PubMed: Ganapathy 2019 - - - India - - - - - ? Developmental delay, microcephaly, seizures and CT scan revealed diffuse calcification 1 1 Johan den Dunnen
00374457 S-4256 PubMed: Ganapathy 2019 - - - India - - - - - ? Neurodevelopmental delay, seizures, strabismus, hypotonia, microcephaly, hypomyelination, spasticity, flat faces and visual impairment 1 1 Johan den Dunnen
00374458 S-2825 PubMed: Ganapathy 2019 - - - India - - - - - ? Calcification, glaucoma and white matter signal changes 1 1 Johan den Dunnen
00387766 M8500033 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Baloch - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00419540 20024 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00419541 20177 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00455857 Pat97 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
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