All individuals with variants in gene B9D1

13 entries on 1 page. Showing entries 1 - 13.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00291657 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 195 Mohammed Faruq
00304570 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00363570 Fam581Pat1639,581 PubMed: Srour 2015 - M - Canada French-Canadian - - - - JBTS see paper; ... 2 1 LOVD
00372143 UW202-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 1 1 LOVD
00372144 UW232-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - JBTS see paper; ... 2 1 LOVD
00377688 400 PubMed: Brooks 2018 family 75 M - United States - - - - - retinal disease oculomotor apraxia, nystagmus 2 1 LOVD
00377695 M456 PubMed: Hopp 2011 2-generation family, 1 affected fetus - - United States - - - - - MKS - 2 1 Johan den Dunnen
00388083 400 PubMed: Summers 2017 - - - United States - - - - - retinal disease - 2 1 LOVD
00418741 COR363 PubMed: Romani 2014 - M - - - - - - - JBTS central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): +; oculomotor abnormalities: ocular: +; retinopathy: -; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: +; neuroimaging: molar tooth sign: +; other central nervous system defects: - 1 1 LOVD
00418742 COR346 PubMed: Romani 2014 - F - - - - - - - JBTS central nervous system: hypotonia/ataxia: +; breathing abnormalities: -; developmental. delay: +; intellectual disability (variable severity): -; oculomotor abnormalities: ocular: +; retinopathy: -; coloboma: -; renal: -; hepatic: -; other features: polydactyly: -; orofacial features: -; dysmorphisms: +; neuroimaging: molar tooth sign: +; other central nervous system defects: - 2 1 LOVD
00427964 ;A107 PubMed: Katiyar 2020, PubMed: Bournazos 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia - - - - - JBTS global delay, late walking, poor sense of balance, required educational support (primary and high school); cerebellar signs with head tilt , rotational nystagmus; dysarthria, hypometric saccades; brain MRI molar tooth sign 2 1 Johan den Dunnen
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