All individuals with variants in gene DVL1

25 entries on 1 page. Showing entries 1 - 25.
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00295333 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295334 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00311863 BAB9126 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311864 BAB9128 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311865 BAB9300 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311866 BAB9129 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311867 16420 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311868 BAB9236 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311885 BAB4073 PubMed: White 2015 - F - - - - - - - RRS height 10%; OFC SD+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; cleft soft palate; bilobed tongue; dental anomalies; short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; camptodactyly; broad thumb; nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; sacral dimple; no renal anomalies; no inguinal hernia; heart defects; umbilical hernia; no seizures; no hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00311886 BAB4878 PubMed: White 2015 - F - - - - - - - RRS height 17%; OFC SD+2.5; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; upslanting palpebral fissures; long eyelashes; no prominent eyes; no blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no renal anomalies; no inguinal hernia; heart defects; umbilical hernia; no seizures; no hearing loss; obstructive sleep apnea; no absent anterior nasal spine; increased bone density (skull); no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00311887 BAB5264 PubMed: White 2015 - M - - - - - - - RRS height <3%; OFC SD>+2; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; no pectus anomaly; cryptorchidism; micropenis; no renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; no seizures; hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00311888 16462 PubMed: White 2015 - F - - - - - - - RRS height 70%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; epicanthal folds; anteverted nares; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no bilobed tongue; dental anomalies; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; nail dysplasia; broad first toe; scoliosis and/or kyphosis; agenesis of the labia minora; small clitoris; hearing loss; obstructive sleep apnea; absent anterior nasal spine; increased bone density (skull) 1 1 Johan den Dunnen
00311889 16516 PubMed: White 2015 family, monozygotic twins M - - - - - - - RRS height 90%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); omphalocele; no hepatomegaly 1 2 Johan den Dunnen
00311890 16517 PubMed: White 2015 2nd twin M - - - - - - - RRS height 75%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; no renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00311891 17604 PubMed: White 2015 - M - Turkey - - - - - RRS height 80%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; epicanthal folds; no anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; no brachydactyly; clinodactyly; camptodactyly; no broad thumb; no nail dysplasia; hypoplastic phalanges; fetal finger and/or toe pads; broad first toe; scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; increased bone density (skull); no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00311892 30526 PubMed: White 2015 - F - Portugal Portugal;Northern Europe - - - - RRS height <3%; OFC SD>+6; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; no blue sclerae; wide, low nasal bridge; short nose; no long philtrum; no gingival hyperplasia; no cleft soft palate; no bilobed tongue; dental anomalies; short neck; no micrognathia; no abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; scoliosis and/or kyphosis; no pectus anomaly; no sacral dimple; no renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; hearing loss; no obstructive sleep apnea; absent anterior nasal spine; no omphalocele; hepatomegaly 1 1 Johan den Dunnen
00311894 Pat1 PubMed: Bunn 2015 - - - New Zealand - - - - - RRS hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; no cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe 1 1 Johan den Dunnen
00311895 Pat2 PubMed: Bunn 2015 - - - New Zealand - - - - - RRS hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe 1 1 Johan den Dunnen
00311896 Pat3 PubMed: Bunn 2015 - - - Netherlands - - - - - RRS hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; no camptodactyly, no brachydactyly; no gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull 1 1 Johan den Dunnen
00311897 BAB8062 PubMed: White 2016 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - Turkey - - - - - RRS height <3%; macrocephaly, frontal bossing, hypertelorism, upslanting palpebral fissures, prominent eyes, anteverted nares, depressed nasal bridge, short nose, gingival hyperplasia, cleft soft palate, dental anomalies, micrognathia, mesomelia, brachydactyly, clinodactyly, no bifid phalanges, scoliosis or kyphosis, pectus anomaly, increased bone density (skull), no hearing loss; sacral dimple, dimple between scrotum and anus; absent anterior nasal spine 1 1 Johan den Dunnen
00394787 BAB10151 PubMed: Zhang 2021 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - DRS - 1 1 Johan den Dunnen
00406605 Pat4 PubMed: Rai 2021 3-generation family, 1 affected F - India - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00413455 patient PubMed: Hu 2022 - ? no China - - - - - DRS2 Developmental delay, protruding forehead, hypertelorism, depressed nasal bridge, thick upper lip, mildly high palatal arch, abnormal alveolar dysplasia, curled tragus, and slightly lower ear position . Limited hip extension of both lower extremities Low weight (Z‐score − 1.49), short stature (Z‐score − 2.36). 1 1 Juliana Mazzeu
00435229 Pat10 PubMed: Tsai 2023 - M - - - - - - - DRS2 - 1 1 Juliana Mazzeu
00452267 patient PubMed: Smith 2024, Journal: Smith 2024 - M - United States - - - - - DRS2 macrocephaly Short stature heart defect 1 1 Juliana Mazzeu
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