All individuals with variants in gene RRP12

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     
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00296733 EG76;FamAPatII1 PubMed: Arno 2016 2-generation family, 1 affected, unaffected parents M no - Asia - - - - retinal disease 5y-nyctalopia (HP:0000662), 18y-field constriction (HP:0001133); fundus peripheral retinal atrophy (HP:0200070), vessel attenuation (HP:?), bony spicules (HP:0007737); 20y-ERG photopic responses severely reduced; Goldmann visual fields reduced to 30 degrees with preserved temporal islands, early posterior subcapsular cataract (HP:0007787) 2 1 Johan den Dunnen
00405714 FetusIII4 PubMed: Smeland 2021 3-generation family, 4 affected fetuses,, unaffected heterozygous carrier parent M yes Norway Asia-C <00y00m00d - - - ? severe, progressive hydrops, 24w-intrauterine fetal death; 11w ultra sound normal, no measurement nuchal translucency; 19w+5 last menstrual period; 17w ultra sound screening hydrothorax, ascites, subcutaneous fluid; postmortem examination; Tetralogy of Fallot; 2-week discrepancy estimated due date from last menstrual period and from ultra-sound; no observed increase in number of lymphatic vessels; hydropic placenta, thick (3 cm), oedematous, weight 360 g 1 4 Audrey Debue
00405720 - PubMed: Smeland 2021 analysis 15308 individuals - - - Asia-C - - - - Healthy/Control - 1 1 Audrey Debue
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