All individuals with variants in gene CCDC22

10 entries on 1 page. Showing entries 1 - 10.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 5 1 Yu Sun
00117946 19377463-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00117947 19377464-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00117948 19377465-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 179 Lucy Raymond
00117949 19377466-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00117950 - - - M no Austria Caucasian - 0 - - MRX;IDX features of Ritscher-Schinzel / 3C syndrome; the affected 8y/15ybrothers are offspring of non-consanguineous healthy parents of Austrian origin. They were born with normal measurements but they developed postnatal growth delay (-3.7 SD in patient 1 and -2.1 SD in patient 2), and a relative large head circumference (occipitofrontal head circumference of +1.3 SD and +0.8 SD, see Table 1). After birth, large anterior fontanelles were documented in both and cryptorchidism was noted in the older one. In addition, both had Dandy-Walker-malformations and ventricular septal defects (VSD) for which corrective surgery was performed. Muscular hypotonia and psychomotor delay were noted in both from early infancy. At current age they are able to communicate in simple, dysgrammatic phrases with poor articulation, while receptive speech is well preserved. Their common facial signs included a broad forehead, upslanting palpebral fissures, wide-set eyes, a short philtrum, and a broad neck with a low posterior hair line; large, protruding tongue; fingers show camptodactyly, reduced distal creases of the second to fifth fingers, clinodactyly of the fifth fingers, fetal finger pads as well as hypoplastic finger nails of the second to fifth fingers; halluces broad, toes long with overriding fifth toe 1 1 Mateusz Kolanczyk
00295073 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00305310 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00305311 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
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