Phenotypes for disease #00577 (DRS (syndrome, Robinow, autosomal dominant (DRS)))

9 entries on 1 page. Showing entries 1 - 9.
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0000051327 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) - - Familial, autosomal dominant 10y - - - - Pieter Klap 00065218
0000051330 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) - - Isolated (sporadic) 00y19m - - - - Pieter Klap 00065222
0000051335 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) - - Isolated (sporadic) 33y - - - - Pieter Klap 00065226
0000051337 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). - - Familial, autosomal dominant 27y - - - - Pieter Klap 00065230
0000237125 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 Robinow syndrome DRS1 Familial, autosomal dominant - - - - - Johan den Dunnen 00311876
0000237126 see paper; ..., short stature with limb shortening, hypertelorism, short flat nose, brachydactyly, bilateral cryptorchidism, genital hypoplasia Robinow syndrome DRS1 Isolated (sporadic) - - - - - Johan den Dunnen 00311877
0000237127 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 Robinow syndrome DRS1 Familial, autosomal dominant - - - - - Johan den Dunnen 00311878
0000237128 see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones Robinow syndrome DRS1 Familial, autosomal dominant - - - - - Johan den Dunnen 00311879
0000237129 hypertelorism, short nose, short stature, mesomelic shortening limbs Robinow syndrome DRS1 Isolated (sporadic) - - - - - Johan den Dunnen 00311880
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