Disease #00782 (FMD1 (dysplasia, frontometaphyseal (FMD1)), OMIM:305620)

Official abbreviation FMD1
Name dysplasia, frontometaphyseal (FMD1)
OMIM ID 305620
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 58
Phenotype entries for this disease 59
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -


Individuals

58 entries on 1 page. Showing entries 1 - 58.
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00027225 - PubMed: Fennell 2015, Journal: Fennell 2015 - F no - - - 0 - - FMD1 see paper; pansynostosis, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, no broad/flattened/spatulateterminal digits; long slender digits, flexion deformity elbows, genu valgum, mixed hearing loss FLNA FLNA 1 1 Stephen Robertson
00027226 - PubMed: Fennell 2015, Journal: Fennell 2015 - M no United Kingdom (Great Britain) - - 0 - - FMD1 see paper; sutures affected sagittal bilambdoid, no broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; deep set eyes, down-slanting palpebral fissures, disorganised eyebrows, broad philtrum, small mouth, thin upper lip, tongue tie, poor shoulder girdle muscle development, glenoid hypoplasia, hand syndactyly (2, 3), toe syndactyly (2, 3), developmental delay, urethral stenosis, feeding aversion, developed hip dysplasia, ... FLNA FLNA 1 1 Stephen Robertson
00027228 - PubMed: Fennell 2015, Journal: Fennell 2015 - M no United Kingdom (Great Britain) - - 0 - - FMD1 see paper; Sagittalmetopic sutures affected, broad prominent forehead/brow ridge, micro/retrognathia, camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; mild exorbitism, grade II congenital subglottic stenosis, recurrent otitis media, umbilical hernia, undermodelling lower limb long bones, C2 pars defect, possible absence seizures, ... Mother prominent supraorbital ridge subject to burring procedure (23); 24y-seizures, otherwise good health, normal intellect; broad, tall forehead, mild hypertelorism, exorbitism a long, triangular chin, normal skull vault contour, anteriorposterior flattening chest with marked pectus excavatum, long fingers with camptodactyly digits (2–5), camptodactyly toes (3–5), with lateral deviation both halluces, no other family history of note FLNA FLNA 1 1 Stephen Robertson
00028711 - PubMed: Robertson 2003, PubMed: Morava 2003 - M - - - - 0 - - FMD1 short stature, abnormal digits FLNA FLNA 1 2 Yu Sun
00028712 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 brother of 16835913.case4 proband M - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00028713 - PubMed: Robertson 2006 mother of 16835913.case4 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00028714 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 - M - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00028715 - PubMed: Robertson 2006 uncle of 16835913.case4 proband M - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00028731 - PubMed: Giuliano 2005 mother of proband of 15523633; affected father F - - - - 0 - - FMD1 supraorbital ridging,hypertelorism, broad nasal bridge, small chin, irregular teeth,and long slender fingers with 3ñ5 camptodactyly FLNA FLNA 1 1 Yu Sun
00028732 - PubMed: Giuliano 2005 - M - - - - 0 - - FMD1 classical FMD FLNA FLNA 1 1 Yu Sun
00028733 - PubMed: Robertson 2003 - M - - - - 0 - - FMD1 bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028734 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 16835913.case5 proband's mother F - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00028735 - {PMID16835913:Robertson2006}, PubMed: Robertson 2003 16835913.case5 proband M - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00028736 - PubMed: Robertson 2006 16835913.case6 proband's brother M - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028737 - PubMed: Robertson 2006 16835913.case6 proband M - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028738 - PubMed: Robertson 2006 16835913.case7 M - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028739 - PubMed: Zenker 2006 unaffected daugther, mother of 16596676.fam2.son F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028740 - PubMed: Zenker 2006 son of 16596676.fam2.mother, unaffected sibling sister M - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028759 - PubMed: Robertson 2006 16835913.case11 F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028760 - PubMed: Robertson 2006 16835913.case12 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028761 - PubMed: Robertson 2006 16835913.case12 proband's daughter F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028762 - PubMed: Robertson 2006 16835913.case13 F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028763 - PubMed: Robertson 2006 - M - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028764 - PubMed: Robertson 2006 mother of 16835913.case1 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028765 - PubMed: Robertson 2006 mother of 16835913.case2 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028766 - PubMed: Robertson 2006 - M - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028767 - PubMed: Robertson 2006 mother of 16835913.case1 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028768 - PubMed: Robertson 2006 sister of 16835913.case1 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028769 - PubMed: Robertson 2006 - F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028770 - PubMed: Robertson 2006 16835913.case8 proband's infant M - - - - 0 - - FMD1 lethal FLNA FLNA 1 1 Yu Sun
00028771 - PubMed: Robertson 2006 16835913.case8 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028772 - PubMed: Robertson 2006 16835913.case9 proband's infant M - - - - 0 - - FMD1 died shortly after birth FLNA FLNA 1 1 Yu Sun
00028773 - PubMed: Robertson 2006 16835913.case9 proband F - - - - 0 - - FMD1 - FLNA FLNA 1 1 Yu Sun
00028858 - PubMed: Robertson 2003 - M - - - - 0 - - FMD1 bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028859 - PubMed: Robertson 2006 16835913.case10 M - - - - 0 - - FMD1 - FLNA FLNA 1 2 Yu Sun
00051533 - - - M no France - - 0 - - FMD1 - FLNA FLNA 1 1 Sébastien Moutton
00051534 - - - M no France - - 0 - - FMD1 - FLNA FLNA 1 1 Sébastien Moutton
00051535 - - - M no France - - 0 - - FMD1 - FLNA FLNA 1 1 Sébastien Moutton
00051536 - - - M no France - - 0 - - FMD1 - FLNA FLNA 1 1 Sébastien Moutton
00078582 27426733-Pat01 PubMed: Wade 2016, Journal: Wade 2016 - M - Italy Italian - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078583 27426733-Pat02 PubMed: Wade 2016, Journal: Wade 2016 - M - United Kingdom (Great Britain) English - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078584 27426733-Pat03 PubMed: Wade 2016, Journal: Wade 2016 - M - Austria Austrian - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078585 27426733-Pat04 PubMed: Wade 2016, Journal: Wade 2016 - M - Australia European - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078586 27426733-Pat05 PubMed: Wade 2016, Journal: Wade 2016 - M - Scotland Scottish - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078587 27426733-Pat06 PubMed: Wade 2016, Journal: Wade 2016 - M - Switzerland Swiss - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078588 27426733-Pat08 PubMed: Wade 2016, Journal: Wade 2016 - M - Korea Korean - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078589 27426733-Pat09 PubMed: Wade 2016, Journal: Wade 2016 - F - - Hispanic - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078590 27426733-Pat07 PubMed: Wade 2016, Journal: Wade 2016 - M - Brazil Brazilian - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078591 27426733-Pat10 PubMed: Wade 2016, Journal: Wade 2016 - F - Turkey Turkish - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078592 27426733-Pat11 PubMed: Wade 2016, Journal: Wade 2016 - F - Mexico Mexican - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078593 27426733-Pat12 PubMed: Wade 2016, Journal: Wade 2016 - F - Germany German - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078594 27426733-Pat13 PubMed: Wade 2016, Journal: Wade 2016 Inheritance unknown. F - United Kingdom (Great Britain) English - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078595 27426733-Pat14 PubMed: Wade 2016, Journal: Wade 2016 - F - Germany German - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078596 27426733-Pat15 PubMed: Wade 2016, Journal: Wade 2016 - F - Netherlands Dutch - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078597 27426733-Pat16 PubMed: Wade 2016, Journal: Wade 2016 - F - Australia European - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078598 27426733-Pat17 PubMed: Wade 2016, Journal: Wade 2016 - F - Australia European - 0 - - 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), 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) TAB2 TAB2 1 1 Jamie Zeegers
00078696 27426733-Pat18 PubMed: Wade 2016, Journal: Wade 2016 - F - Canada French - 0 - - 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:?) MAP3K7 MAP3K7 1 1 Jamie Zeegers
00078697 27426733-Pat19 PubMed: Wade 2016, Journal: Wade 2016 - F - Hungary Hungarian - 0 - - 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) MAP3K7 MAP3K7 1 1 Jamie Zeegers
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