All individuals with variants in gene DVL3

4 entries on 1 page. Showing entries 1 - 4.
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00065218 26924530 BAB7990 PubMed: White 2016, Journal: White 2016 2-generation family, affected father/daughter F - - Caucasian >14y 0 - - 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 - - Caucasian >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 - - Caucasian >35y 0 - - 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 - - Caucasian >38y 0 - - 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
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