All individuals with variants in gene DVL3

11 entries on 1 page. Showing entries 1 - 11.
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00065218 26924530 BAB7990 PubMed: White 2016, Journal: White 2016 2-generation family, affected father/daughter F - - white >14y - - - DRS Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed and short tongue (HP:0000157), Misalignment of teeth (HP:0000692), Micrognathia (HP:0000347). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Syndactyly (HP_0001159), Camptodactyly (HP:0012385), Broad thumb (HP:0011304), Short phalanx of finger (HP:0009803), Broad first toe (HP:0001837), Abnormality of the sternum (HP:0000766). Sacral dimple (HP:0000960), Clitoral hypoplasia (HP:0000060), Vesicoureteral reflux (HP_0000076), Omphalocele (HP_0001539) 1 2 Pieter Klap
00065222 26924530 BAB7982 PubMed: White 2016, Journal: White 2016 - M - - white >12y - - - DRS Frontal bossing (HP:0002007), High forehead (HP:0000348), Midface retrusion (HP:0011800), Hypertelorism (HP:0000316), Upslanting palpebral fissures (HP:0000582), Long eyelashes (HP:0000527), Proptosis (HP:0000520), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Cleft upper lip (HP:0000204), cleft palate (HP:0000175), Micrognathia (HP:0000347), Low-set ears (HP:0000369). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084) Cryptorchidism (HP:0000028), Micropenis (HP:0000054) 1 1 Pieter Klap
00065226 26924530 BAB4569 PubMed: White 2016, Journal: White 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - white >35y - - - DRS Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Proptosis (HP:0000520), Blue sclerae (HP:0000592), Epicanthus (HP:0000286), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Triangular mouth (HP:0000207), Gingival overgrowth (HP:0000212), cleft palate (HP:0000175), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Micrognathia (HP:0000347). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Abnormality of the sternum (HP:0000766). Hearing impairment (HP:0000365) 1 1 Pieter Klap
00065230 26924530-Pat015902 PubMed: White 2016, Journal: White 2016 2-generation family, affected mother/daughter; daughter F - - white >38y - - - DRS Frontal bossing (HP:0002007), Midface retrusion (HP:0011800), Telecanthus (HP:0000506), Upslanting palpebral fissures (HP:0000582), Anteverted nares (HP:0000463), Wide nasal bridge (HP:0000431), Short nose (HP:0003196), Long philtrum (HP:0000343), Gingival overgrowth (HP:0000212), Bilobed tongue (HP:0000157), Agenesis of permanent teeth (HP:0006349), Webbed neck (HP:0000465). Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084) Broad first toe (HP:0001837). Umbilical hernia (HP:0001537). 1 2 Pieter Klap
00311898 15902 PubMed: White 2016 family, affected mother/daughter; daughter F - - - - - - - RRS height <3rd percentile; OFC >98th; frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; upslanting palpebral fissures; no long eyelashes; no prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft lip and/or palate; bilobed tongue; webbed neck; no micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; broad first toe; no scoliosis or kyphosis; no pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; no heart defects; umbilical hernia; no seizures; no hearing loss; no omphalocele; no hepatomegaly 1 2 Johan den Dunnen
00311899 BAB7990 PubMed: White 2016 family, affected father/daughter; daughter F - - - - - - - RRS height <3rd percentile; OFC 50th-75th; no frontal bossing; no high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; no triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue, short tongue; no short neck; micrognathia; abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; syndactyly; camptodactyly; broad thumb; no nail dysplasia; bifid first and second phalanges; hypoplastic phalanges; broad first toe; scoliosis or kyphosis; pectus anomaly; sacral dimple; no agenesis of the labia minora; small clitoris; urinary reflux; no inguinal hernia; ventricular septal defect, pulmonary atresia, hypoplastic right heart; no umbilical hernia; no seizures; no hearing loss; omphalocele; no hepatomegaly 1 2 Johan den Dunnen
00311900 BAB7985 PubMed: White 2016 - - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311901 BAB7982 PubMed: White 2016 - M - - - - - - - RRS height <3rd percentile; OFC 50th; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no telecanthus; upslanting palpebral fissures; long eyelashes; prominent eyes; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; no triangular mouth; no thin upper lip; no absent uvula; cleft lip, cleft palate; no short neck; micrognathia; low set ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; hypoplastic phalanges (fifth); no broad first toe; no scoliosis or kyphosis; no sacral dimple; cryptorchidism; no hypospadias; buried micropenis; no urinary reflux; no inguinal hernia; patent ductus arteriosu, patent foramen ovale, tricuspid regurgitation; no umbilical hernia; no seizures; no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00311902 BAB4569 PubMed: White 2016 - F - - - - - - - RRS height <3rd percentile; OFC >98th; no frontal bossing; no high forehead; midface hypoplasia; no hypertelorism; telecanthus; no upslanting palpebral fissures; no long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide nasal bridge; short nose; long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; cleft palate; bilobed tongue; no short neck; micrognathia; no abnormally shaped or positioned ears; mesomelia; brachydactyly; clinodactyly; no syndactyly; no camptodactyly; no broad thumb; no nail dysplasia; no bifid first and second phalanges; no hypoplastic phalanges; no broad first toe; scoliosis or kyphosis; pectus anomaly; no sacral dimple; no agenesis of the labia minora; no small clitoris; no urinary reflux; no inguinal hernia; ventricular septal defect; no umbilical hernia; no seizures; hearing loss; no omphalocele; no hepatomegaly 1 1 Johan den Dunnen
00406604 Pat3 PubMed: Rai 2021 3-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00471497 357975 - - M no Germany - - - - - DRS3 Absent thumb, Abnormal shoulder morphology, Hypotonia, Limited elbow movement, Limitation of knee mobility, Abnormal tibia morphology, Abnormality of the face, Abnormality of the outer ear, Abnormal thumb morphology 1 1 Andreas Laner
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