All individuals with variants in gene SOX9

9 entries on 1 page. Showing entries 1 - 9.
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AscendingIndividual ID     

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00058589 - - - F no Brazil - - 0 - - CMPD - 1 1 Karina Silveira
00081220 - PubMed: Cox 2011, Journal: Cox 2011 4-generation family, 4 carriers M no United Kingdom (Great Britain) - - 0 - - SRXX2 family, 46,XX testicular disorder of sex development; 1 male (4 children, 2 carrier sons) and 3 adult males (two brothers, paternal uncle) female karyotype (46,XX) and negative for SRY gene. 1 4 Johan den Dunnen
00163910 - - - F - (Germany) - - 0 - - ? Talipes equinovarus (HP:0001762); Short stature (HP:0004322) 1 1 IMGAG
00231471 Pat106 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development 1 1 Johan den Dunnen
00231479 Pat127 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development 1 1 Johan den Dunnen
00231541 Pat278 PubMed: Eggers 2016 - - - - - - 0 - - DSD syndromic, shortened long bones 1 1 Johan den Dunnen
00231564 Pat67 PubMed: Eggers 2016 - - - - - - 0 - - DSD disorder of sex development 1 1 Johan den Dunnen
00325870 - - - ? - - - - 0 - - ? Hydronephrosis (HP:0000126); Pierre-Robin sequence (HP:0000201); Retrognathia (HP:0000278); Delayed speech and language development (HP:0000750); Pectus excavatum (HP:0000767); Muscular hypotonia (HP:0001252); Right ventricular hypertrophy (HP:0001667); Sex reversal (HP:0012245) 1 1 IMGAG
00380395 184901 - - M no ? (unknown) - - 0 - - CMPD prenatal ultrasound abnormalities: Dysplastic sacrum, Micromelia, Hyperechogenic kidneys, Fetal cystic hygroma 1 1 Andreas Laner
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