All individuals with variants in gene MAP3K7

22 entries on 1 page. Showing entries 1 - 22.
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00078582 27426733-Pat01 PubMed: Wade 2016, Journal: Wade 2016 - M - Italy Italian - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), hydronephrosis (HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078583 27426733-Pat02 PubMed: Wade 2016, Journal: Wade 2016 - M - United Kingdom (Great Britain) English - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078584 27426733-Pat03 PubMed: Wade 2016, Journal: Wade 2016 - M - Austria Austrian - - - - FMD1 supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), scoliosis (HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078585 27426733-Pat04 PubMed: Wade 2016, Journal: Wade 2016 - M - Australia European - - - - FMD1 supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239) 1 1 Jamie Zeegers
00078586 27426733-Pat05 PubMed: Wade 2016, Journal: Wade 2016 - M - Scotland Scottish - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078587 27426733-Pat06 PubMed: Wade 2016, Journal: Wade 2016 - M - Switzerland Swiss - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078588 27426733-Pat08 PubMed: Wade 2016, Journal: Wade 2016 - M - Korea Korean - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), no downslanting palpebral fissures (-HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078589 27426733-Pat09 PubMed: Wade 2016, Journal: Wade 2016 - F - - Hispanic - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078590 27426733-Pat07 PubMed: Wade 2016, Journal: Wade 2016 - M - Brazil Brazilian - - - - FMD1 supraorbital ridges (HP:?), no small chin (-HP:0000331), no hearing loss (-HP:0000365), hypertelorism (HP:0000316), no downslanting palpebral fissures (-HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), no flared metaphyses (-HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), no broad thumbs (-HP:0011304), no broad fingers (-HP:0001500) 1 1 Jamie Zeegers
00078591 27426733-Pat10 PubMed: Wade 2016, Journal: Wade 2016 - F - Turkey Turkish - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078592 27426733-Pat11 PubMed: Wade 2016, Journal: Wade 2016 - F - Mexico Mexican - - - - FMD1 supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078593 27426733-Pat12 PubMed: Wade 2016, Journal: Wade 2016 - F - Germany German - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078594 27426733-Pat13 PubMed: Wade 2016, Journal: Wade 2016 Inheritance unknown. F - United Kingdom (Great Britain) English - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078595 27426733-Pat14 PubMed: Wade 2016, Journal: Wade 2016 - F - Germany German - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078596 27426733-Pat15 PubMed: Wade 2016, Journal: Wade 2016 - F - Netherlands Dutch - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078597 27426733-Pat16 PubMed: Wade 2016, Journal: Wade 2016 - F - Australia European - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), hydronephrosis (HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00078696 27426733-Pat18 PubMed: Wade 2016, Journal: Wade 2016 - F - Canada French - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), no flared metaphyses (-HP:0003015), no digital and wrist contractures (-HP:0001239), under modeled phalanges (HP:?) 1 1 Jamie Zeegers
00078697 27426733-Pat19 PubMed: Wade 2016, Journal: Wade 2016 - F - Hungary Hungarian - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), no hearing loss (-HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00132079 - PubMed: Morlino 2018, Journal: Morlino 2018 2-generation family, 1 affected F no Italy white - - - - CSCF see paper; ..., soft/dystrophic skin, extreme joint hypermobility, polyvalvular heart disease, upper gastrointestinal dismotility 1 1 Marco Ritelli
00183689 27620904-Pat34 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00410559 Pat21 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - - - - ? see paper; ..., onset childhood, small stature, cardiomyopathy, hearing loss, cervical vertebral fusions, facial dysmorphism, no family history 1 1 Johan den Dunnen
00434624 251869 - - M ? ? (unknown) - - - - - FMD2 Neurodevelopmental abnormality, Delayed speech and language development, Hypotonia, Joint hypermobility, Aganglionic megacolon, Synophrys, Hypertrichosis, Cryptorchidism, Umbilical hernia, Patent foramen ovale, Supravalvular aortic stenosis 1 1 Andreas Laner
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