All individuals with variants in gene MYH3

34 entries on 1 page. Showing entries 1 - 34.
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AscendingIndividual ID     

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00060260 - - - F - France - - 0 - - SCT - 1 1 Raphael Carapito
00060275 - - - M no France - - 0 - - SCT - 1 1 Raphael Carapito
00060276 - - - F ? France - - 0 - - SCT - 1 1 Raphael Carapito
00060277 - - - F no France - - 0 - - SCT - 1 1 Raphael Carapito
00074406 - PubMed: Chong 2015, Journal: Chong 2015 3-generation family, affected father and two daughters, PatIII1 F - United States - - 0 - - DA-8 downslanting palpebral fissures (HP:0000494), no ptosis (-HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), no knee contractures (-HP:0006380), no popliteal webbing (-HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), short stature (HP:0004322), vertebral fusion C1-C2 (HP:0002948), webbing of fingers (HP:0006101) 1 3 Jamie Zeegers
00074407 - PubMed: Chong 2015, Journal: Chong 2015 sister III2 F - United States - - 0 - - DA-8 downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), knee contractures (HP:0006380), popliteal webbing (HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), vertebral fusion T10-L3 (HP:0002948) 1 1 Jamie Zeegers
00074408 - PubMed: Chong 2015, Journal: Chong 2015 father II2 M - United States - - 0 - - DA-8 downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), no low-set posteriorly rotated ears (-HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), no foot contractures (-HP:0005745), no scoliosis (-HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), no vertebral fusion (HP:0002948) 1 1 Jamie Zeegers
00074409 - PubMed: Chong 2015, Journal: Chong 2015 3-generation family, affected father/daughter, PatIII2 F - United States - - 0 - - DA-8 downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), no neck webbing (-HP:0000465), short stature (HP:0004322) 1 2 Jamie Zeegers
00074410 - PubMed: Chong 2015, Journal: Chong 2015 father II1 M - United States - - 0 - - DA-8 downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), long nasal bridge (HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), antecubital webbing (HP:0009760), elbow contractures (HP:0002987), limited forearm supination (HP:0006394), hip contractures (HP:0003273), knee contractures (HP:0006380), popliteal webbing (HP:0009756), metatarsus adductus (HP:0001840), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), mild cervical spinal stenosis (HP:0008445) 1 1 Jamie Zeegers
00074411 - PubMed: Chong 2015, Journal: Chong 2015 5-generation family, 10 affecteds (4F, 6M), PatIII5 M - United States - - 0 - - DA-8 knee contractures (HP:0006380), scoliosis (HP:0002650), short neck (HP:0000470), short stature (HP:0004322), vertebral fusion C1-C2 (HP:0002948), craniosynostosis (HP:00013630) 1 10 Jamie Zeegers
00074412 - PubMed: Chong 2015, Journal: Chong 2015 PatIV3 F - United States - - 0 - - DA-8 no downslanting palpebral fissures (-HP:0000494), no ptosis (-HP:0000508), no long nasal bridge (-HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), no antecubital webbing (-HP:0009760), no elbow contractures (-HP:0002987), no hip contractures (-HP:0003273), knee contractures (HP:0006380), popliteal webbing (HP:0009756), limited ankle dorsiflexion (HP:?), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), short stature (HP:0004322), vertebral fusion (HP:0002948), cleft palate (HP:0000175), craniosynostosis (HP:0001363) 1 1 Jamie Zeegers
00074413 - PubMed: Chong 2015, Journal: Chong 2015 PatV2 M - United States - - 0 - - DA-8 no downslanting palpebral fissures (-HP:0000494), no ptosis (-HP:0000508), no long nasal bridge (-HP:?), low-set posteriorly rotated ears (HP:0000368), hypoplastic flexion creases (HP:?), camptodactyly (HP:0012385), antecubital webbing (HP:0009760), elbow contractures (HP:0002987), knee contractures (HP:0006380), popliteal webbing (HP:0009756), no foot contractures (-HP:0005745), scoliosis (HP:0002650), short neck (HP:0000470), neck webbing (HP:0000465), vertebral fusion (HP:0002948), bilateral inguinal hernia (HP:0000023), spondylolisthesis (HP:0003302) 1 1 Jamie Zeegers
00154881 23401156-a1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154882 16642020-g1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154883 21531865-1 PubMed: Alvarado 2011 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154884 18695058-a1 PubMed: Tajsharghi 2008 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154885 23401156-b1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154886 23401156-d1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154887 16642020-b1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154888 16642020-c1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154889 23401156-i1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 2 Johan den Dunnen
00154890 16642020-d1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154891 16642020-a2 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154892 16642020-e1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154893 16642020-f1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154894 23401156-x2 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154895 23401156-x1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154896 18695058-b1 PubMed: Tajsharghi 2008 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154897 23401156-z1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154898 23401156-aa1 PubMed: Beck 2013 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00154899 16642020-a1 PubMed: Toydemir 2006 - - - United States - - 0 - - DA - 1 1 Johan den Dunnen
00164429 - - - ? - (Germany) - - 0 - - - HP:0000301 (Abnormality of facial musculature) 1 1 IMGAG
00248338 Fam1 PubMed: Todd 2015 - - - - - - 0 - - NMD see paper; … 1 1 Johan den Dunnen
00248339 Fam11 PubMed: Todd 2015 - - - - - - 0 - - NMD see paper; … 1 1 Johan den Dunnen
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