All individuals with variants in gene WNT5A

9 entries on 1 page. Showing entries 1 - 9.
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00132975 29100090-FamDC14 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier father F - - - - - - - CAKUT CAKUT, renal agenesis left 1 2 Johan den Dunnen
00311870 BAB9138/BH9278_1 PubMed: White 2018 patient M - - - - - - - RRS short stature (-4.25 SD), telecanthus, hypertelorism, frontal bossing, prominent eyes, anteverted nares, wide depressed nasal bridge, midface hypoplasia, smooth philtrum, wide mouth, bilobed tongue, gingival hyperplasia, microretrognatia, low-set ears; mesomelic limb shortening and fingers, toes very broad and short, nails dysplastic; surgery to remove Y-shaped duplication bilateral thumbs and great toes; buried penis, cryptorchidism, sacral dimple; radiography hemivertebrae (T6, T7, T13); early motor milestones delayed, present cognitive development normal 1 1 Johan den Dunnen
00311871 BAB9131/BH9276_1 PubMed: White 2018 patient F - - - - - - - RRS see paper; ..., infancy slow linear growth, acromesomelia, hypertelorism, prominent forehead 1 1 Johan den Dunnen
00311876 Fam1 PubMed: Roifman 2015 3-generation family, affected mother/son F;M - Germany;Italy;United Kingdom (Great Britain) - - - - - DRS see paper; ..., mesomelic short stature, limb shortening, malar hypoplasia, hypertelorism, short flat nose, low set ears, limited suppination, persistent primary teeth, brachydactyly, bilateral cryptorchidism, genital hypoplasia (1/2); radiography short long bones, bilateral radial head dislocation 1 2 Johan den Dunnen
00311877 Fam2 PubMed: Roifman 2015 - M - Netherlands;Spain - - - - - DRS see paper; ..., short stature with limb shortening, hypertelorism, short flat nose, brachydactyly, bilateral cryptorchidism, genital hypoplasia 1 1 Johan den Dunnen
00311878 Fam3 PubMed: Roifman 2015 family, 3 affected F - Turkey - - - - - DRS see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge, anteverted nares, long philtrum, gingival hyperplasia, short oral frenulum, posteriorly rotated ears, micrognathia., genital hypoplasia, sacral dimple, hairy sacral patch; radiography short long bones 1 3 Johan den Dunnen
00311879 family PubMed: Person 2010 5-generation family, 8 affected (5F, 3M) F;M - United States - - - - - DRS see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones 1 8 Johan den Dunnen
00311880 Pat2 PubMed: Person 2010 2-generation family, 1 affected, unaffected parents - - United States - - - - - DRS hypertelorism, short nose, short stature, mesomelic shortening limbs 1 1 Johan den Dunnen
00435228 Pat1 PubMed: Goitia-Cárdenas - M no - - - - - - DRS1 - 1 1 Juliana Mazzeu
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