All individuals with variants in gene POLR1D

25 entries on 1 page. Showing entries 1 - 25.
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00285013 Man8 PubMed: Dauwerse 2011 - - - - - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285014 Man15 PubMed: Dauwerse 2011 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - TCS - 1 2 Global Variome, with Curator vacancy
00285015 Nijm88 PubMed: Dauwerse 2011 - - - Netherlands - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285016 Man46 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285017 EsM10408 PubMed: Dauwerse 2011 - F - - - - - - - TCS downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no cleft palate; no tracheostoma; no delayed motor development; no speech delay 1 1 Global Variome, with Curator vacancy
00285018 EsM6195 PubMed: Dauwerse 2011 2-generation family, 2 affected brothers, unaffected parents M - - - - - - - TCS downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; choanal stenosis/atresia; no cleft palate; no tracheostoma 1 2 Global Variome, with Curator vacancy
00285019 Man18 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285020 EsM6227 PubMed: Dauwerse 2011 3-generation family, 3 affected (3F) F - - - - - - - TCS downward slanting palpebral fissures; no lower eyelid coloboma; no hypoplasia zygomatic complex; hypoplasia mandible; microtia; no conductive deafness; no choanal stenosis/atresia; no cleft palate; no tracheostoma; no delayed motor development; no speech delay 1 3 Global Variome, with Curator vacancy
00285021 Man12 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285022 - PubMed: Schaefer 2014, PubMed: Katsanis 1993 - - - - - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285023 EsM5850 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - TCS downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; cleft palate; tracheostoma; no delayed motor development; speech delay 1 1 Global Variome, with Curator vacancy
00285024 Man38 PubMed: Dauwerse 2011 - - - United Kingdom (Great Britain) - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285025 EsM5513 PubMed: Dauwerse 2011 affected fetus - - - - - - - - TCS hypoplasia mandible; microtia; cleft palate 1 1 Global Variome, with Curator vacancy
00285026 Man40 PubMed: Dauwerse 2011 3-generation family, affected daughter/grandmother, unaffected carrier mother F - United Kingdom (Great Britain) - - - - - TCS - 1 2 Global Variome, with Curator vacancy
00285027 EsM42160 PubMed: Dauwerse 2011 3-generation family, 2 affected brothers, 3 unaafected male carriers M - - - - - - - TCS downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no choanal stenosis/atresia; cleft palate; tracheostoma; delayed motor development; speech delay 1 2 Global Variome, with Curator vacancy
00285028 Man24 PubMed: Dauwerse 2011 2-generation family, affected father/daughter F - (United Kingdom (Great Britain)) - - - - - TCS - 1 2 Global Variome, with Curator vacancy
00285029 EsM9491 PubMed: Dauwerse 2011 - - - - - - - - - TCS - 1 1 Global Variome, with Curator vacancy
00285030 EsM3422 PubMed: Dauwerse 2011 3-generation family, 3 affected M - - - - - - - TCS no downward slanting palpebral fissures; no lower eyelid coloboma; no hypoplasia zygomatic complex; hypoplasia mandible; no microtia; no conductive deafness; no choanal stenosis/atresia; no cleft palate; no tracheostoma; no delayed motor development; no speech delay 1 3 Global Variome, with Curator vacancy
00285031 - PubMed: Giampietro 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00290870 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00427781 Lei1 PubMed: Dauwerse 2011 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - TCS downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no choanal stenosis/atresia; no cleft palate; no tracheostoma; no delayed motor development; no speech delay 1 1 Johan den Dunnen
00427782 Man33 PubMed: Dauwerse 2011 3-generation family, 3 affected (2F, M), unaffected carrier grandmother F - United Kingdom (Great Britain) - - - - - TCS downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; no microtia; no conductive deafness; no cleft palate; no tracheostoma; no delayed motor development; no speech delay 1 3 Johan den Dunnen
00427783 EsM7960 PubMed: Dauwerse 2011 - - - - - - - - - TCS - 1 1 Johan den Dunnen
00427784 EsM11695 PubMed: Dauwerse 2011 - - - - - - - - - TCS - 1 1 Johan den Dunnen
00443808 Pat544 PubMed: Imafidon 2021 - F - Netherlands - - - - - ? respiratory distress, distinctive dysmorphic features 1 1 Johan den Dunnen
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