All individuals with variants in gene DNHD1

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) 2 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
00050240 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00181147 - - - F - - - - - - - ? Hypoplastic left heart (HP:0004383), persisting left cardinal and vena cava with estuary in the left atrium, Atrial septal defect (HP:0001631), Abnormal lung lobation (HP:0002101), Extrahepatic bile duct aplasia, Intestinal stenosis (HP:0012848) 1 1 Isabel Filges
00361542 16DG0296 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, cerebellar dysgenesis 1 1 Johan den Dunnen
00397667 Fam1 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M no China - - - - - INFM see paper; asthenoteratozoospermia, ... 2 1 Johan den Dunnen
00397668 Fam2 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M yes China - - - - - INFM see paper; asthenoteratozoospermia, ... 1 1 Johan den Dunnen
00397669 Fam3 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M no China - - - - - INFM see paper; asthenoteratozoospermia, ... 2 1 Johan den Dunnen
00397670 Fam4 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M no China - - - - - INFM see paper; asthenoteratozoospermia, ... 2 1 Johan den Dunnen
00397671 Fam5 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M yes China - - - - - INFM see paper; asthenoteratozoospermia, ... 1 1 Johan den Dunnen
00397672 Fam6 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M no China - - - - - INFM see paper; asthenoteratozoospermia, ... 2 1 Johan den Dunnen
00397673 Fam7 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M no China - - - - - INFM see paper; asthenoteratozoospermia, ... 2 1 Johan den Dunnen
00397674 Fam8 PubMed: Tan 2022 2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents M no China - - - - - INFM see paper; asthenoteratozoospermia, ... 2 1 Johan den Dunnen
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