Phenotypes for disease #00782

59 entries on 1 page. Showing entries 1 - 59.
Legend  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000024749 short stature, abnormal digits - - Familial - - - - - Yu Sun 00028711
0000024750 - - - Familial - - - - - Yu Sun 00028712
0000024751 - - - Familial - - - - - Yu Sun 00028713
0000024752 - - - Familial - - - - - Yu Sun 00028714
0000024753 - - - Familial - - - - - Yu Sun 00028715
0000024758 supraorbital ridging,hypertelorism, broad nasal bridge, small chin, irregular teeth,and long slender fingers with 3ñ5 camptodactyly - - Familial - - - - - Yu Sun 00028731
0000024759 classical FMD - - Familial - - - - - Yu Sun 00028732
0000024760 bowed bones, abnormal digits - - Familial - - - - - Yu Sun 00028733
0000024761 - - - Familial - - - - - Yu Sun 00028734
0000024762 - - - Familial - - - - - Yu Sun 00028735
0000024763 - - - Familial - - - - - Yu Sun 00028736
0000024764 - - - Familial - - - - - Yu Sun 00028737
0000024765 - - - Familial - - - - - Yu Sun 00028739
0000024766 - - - Familial - - - - - Yu Sun 00028740
0000024780 - - - Familial - - - - - Yu Sun 00028760
0000024781 - - - Familial - - - - - Yu Sun 00028761
0000024782 - - - Familial - - - - - Yu Sun 00028763
0000024783 - - - Familial - - - - - Yu Sun 00028764
0000024784 - - - Familial - - - - - Yu Sun 00028765
0000024785 - - - Familial - - - - - Yu Sun 00028766
0000024786 - - - Familial - - - - - Yu Sun 00028767
0000024787 - - - Familial - - - - - Yu Sun 00028768
0000024788 lethal - - Familial - - - - - Yu Sun 00028770
0000024789 died shortly after birth - - Familial - - - - - Yu Sun 00028772
0000024790 - - - Familial - - - - - Yu Sun 00028773
0000024933 - - - Unknown - - - - - Yu Sun 00028738
0000024935 - - - Unknown - - - - - Yu Sun 00028759
0000024936 - - - Unknown - - - - - Yu Sun 00028762
0000024937 - - - Unknown - - - - - Yu Sun 00028769
0000024938 - - - Unknown - - - - - Yu Sun 00028771
0000024940 bowed bones, abnormal digits - - Unknown - - - - - Yu Sun 00028858
0000024941 - - - Unknown - - - - - Yu Sun 00028859
0000024945 - - - Unknown - - - - - Stephen Robertson 00027224
0000024946 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 - - Isolated (sporadic) - - - - - Stephen Robertson 00027225
0000024947 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, ... - - Isolated (sporadic) - - - - - Stephen Robertson 00027226
0000024948 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 - - Unknown - - - - - Stephen Robertson 00027228
0000038119 - - - Familial, X-linked dominant - - - - - Sébastien Moutton 00051533
0000038120 - - - Familial, X-linked dominant - - - - - Sébastien Moutton 00051534
0000038121 - - - Familial, X-linked dominant - - - - - Sébastien Moutton 00051535
0000038123 - - - Familial, X-linked dominant - - - - - Sébastien Moutton 00051536
0000058350 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078582
0000058351 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078583
0000058352 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) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00078584
0000058353 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078585
0000058354 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078586
0000058355 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078587
0000058356 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078588
0000058357 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) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00078589
0000058358 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078590
0000058359 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078591
0000058360 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078592
0000058361 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078593
0000058362 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078594
0000058363 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078595
0000058364 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078596
0000058365 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078597
0000058366 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) - - Familial, X-linked recessive - - - - - Jamie Zeegers 00078598
0000058464 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:?) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00078696
0000058465 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) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00078697
Legend