All individuals with variants in gene MYH3

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00060260 Fam1PatII2 PubMed: Carapito 2016 2-generation family, affected mother/son F - France - - - - - SCT see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; cervical fusion; short neck; sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; no single palmar crease; hearing loss; high arched/cleft palate; no inguinal hernia; facial dysmorphy; no pterygium colli; no respiratory failure 1 2 Raphael Carapito
00060275 Fam1PatIII2 PubMed: Carapito 2016 - M no France - - - - - SCT see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; no cervical fusion; short neck; sacral anomaly; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; no single palmar crease; hearing loss; high arched/cleft palate; inguinal hernia; facial dysmorphy; no pterygium colli; no respiratory failure 1 1 Raphael Carapito
00060276 Fam2PatI2 PubMed: Carapito 2016 2-generation family, affected mother/daughter F ? France - - - - - SCT see paper; ..., no short stature; no short trunk; no thoracolumbar fusions; no scoliosis; cervical fusion; short neck; no sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; clinodactyly 5th; no elbow, knee and shoulder pterygium; single palmar crease; no hearing loss; high arched/cleft palate; no inguinal hernia; facial dysmorphy; pterygium colli; no respiratory failure 1 2 Raphael Carapito
00060277 Fam2PatII1 PubMed: Carapito 2016 daughter F no France - - - - - SCT see paper; ..., short stature; short trunk; thoracolumbar fusions; scoliosis; cervical fusion; short neck; sacral anomaly; carpal fusion; tarsal fusion; joint mobility limitation; no clinodactyly 5th; elbow, knee and shoulder pterygium; no single palmar crease; no hearing loss; high arched/cleft palate; inguinal hernia; facial dysmorphy; pterygium colli; respiratory failure 1 1 Raphael Carapito
00074406 - PubMed: Chong 2015, Journal: Chong 2015 3-generation family, affected father and two daughters, PatIII1 F - United States - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - CPSFS1A 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 - - - - - DA - 1 1 Johan den Dunnen
00154882 16642020-g1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154883 21531865-1 PubMed: Alvarado 2011 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154884 18695058-a1 PubMed: Tajsharghi 2008 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154885 23401156-b1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154886 23401156-d1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154887 16642020-b1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154888 16642020-c1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154889 23401156-i1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 2 Johan den Dunnen
00154890 16642020-d1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154891 16642020-a2 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154892 16642020-e1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154893 16642020-f1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154894 23401156-x2 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154895 23401156-x1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154896 18695058-b1 PubMed: Tajsharghi 2008 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154897 23401156-z1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154898 23401156-aa1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154899 16642020-a1 PubMed: Toydemir 2006 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00164429 - - - ? - (Germany) - - - - - ? Arthrogryposis multiplex congenita (HP:0002804); Abnormality of facial musculature (HP:0000301) 1 1 IMGAG
00248338 Fam1 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … 1 1 Johan den Dunnen
00248339 Fam11 PubMed: Todd 2015 - - - - - - - - - NMD see paper; … 1 1 Johan den Dunnen
00291620 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 145 Mohammed Faruq
00291621 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00291622 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 144 Mohammed Faruq
00291623 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 143 Mohammed Faruq
00304556 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00304557 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00304558 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00307081 Pat6 PubMed: Motta 2020, Journal: Motta 2020 - M - - white - - - - NDD birth height 50.2 cm (+0.17 SD), weight 3,062 g (-0.6 SD); 14y10m-height 122 cm (-5.92 SD), weight 16.1 kg (-7.77 SD), OFC 44 cm (-7.4 SD); developmental delay; intellectual disability; speech dealy; occasionally aggressive; learning disorder; hypotonia, axial hypotone with increased distal tone; no epilepsy; no cardiac defect; dextroconvex thoracolumbar scoliosis, dislocation/subluxati on of the left femoral head, clinodactyly, overlapping toes, prominent heels, bilateral clubfoot, limited elbow extension; microcephaly, plagiocephaly, highly arched eyebrow, long eyelashes, downslanted palpebral fissures, severe ptosis (unsuccessfully treated), malar hypoplasia, low-set posteriorly rotated ears, carp-shaped mouth, long philtrum, crowded teeth, mandibular micrognathia, coarse facies, generalized hirsutism, low posterior hairline; freckling (forehead), several 5-10 mm, hyperpigmented macules (feet, dorsal), thin nails, hypertrichosis; cryptorchidism; GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; suspicious for bowel malrotation, inflammatory bowel disease (Crohn's disease), marked atrophy left kidney 1 1 Johan den Dunnen
00307184 D14-0774 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; abnormal facial shape 1 1 Gianina Ravenscroft
00307206 D16-1217 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis 1 1 Gianina Ravenscroft
00307239 D19-0178 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 family, 3 affected (proband, father and paternal uncle) - - Australia - - - - - DA distal arthrogryposis; micrognathia; chin with h-shaped crease 3 3 Gianina Ravenscroft
00307240 D19-0489 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis; adducted thumb; bilateral talipes equinovarus; micrognathia; respiratory infections in early life 1 1 Gianina Ravenscroft
00307557 - see Hakonen et al. Am J Med Genet 2020 - F no Finland - - - - - ? - 2 2 Anna Hakonen
00307985 Fam1Pat1 PubMed: Cameron-Christie 2018 family, 2 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - ? see paper; ..., vertebral fusion thoracic; carpal-tarsal fusion; dysmorphism; short neck; scoliosis; webbing fingers; contractures elbows, contractures knees, contractures shoulderss; absent finger flexion creases 2 1 Johan den Dunnen
00307986 Fam1Pat2 PubMed: Cameron-Christie 2018 sister F - Netherlands - - - - - ? see paper; ..., vertebral fusion thoracic; carpal-tarsal fusion; no dysmorphism; short neck; scoliosis; webbing neck, webbing fingers; contractures elbows, contractures hips, contractures knees, hip dysplasia; absent finger flexion creases; cleft palate 2 1 Johan den Dunnen
00307987 Fam2Pat3 PubMed: Cameron-Christie 2018 family, 2 affected, heterozygous carrier mother with camptodactyly M - Netherlands - - - - - ? see paper; ..., vertebral fusion cervical, vertebral fusion thoracic; carpal-tarsal fusion; no dysmorphism; no short neck; scoliosis; webbing neck, webbing fingers; contractures fingers; absent finger flexion creases 1 1 Johan den Dunnen
00307988 Fam2Pat4 PubMed: Cameron-Christie 2018 brother F - Netherlands - - - - - ? see paper; ..., vertebral fusion cervical, vertebral fusion thoracic; carpal-tarsal fusion; dysmorphism; no short neck; scoliosis; webbing neck, webbing fingers; contractures fingers; absent finger flexion creases 1 1 Johan den Dunnen
00307989 Pat5 PubMed: Cameron-Christie 2018 - F - Netherlands - - - - - ? see paper; ..., vertebral fusion thoracic, vertebral fusion lumbar; dysmorphism; short neck; scoliosis; webbing neck; contractures elbows, contractures knees, contractures hips; absent finger flexion creases 2 1 Johan den Dunnen
00307990 Pat6 PubMed: Cameron-Christie 2018 - F - - North Africa - - - - ? see paper; ..., vertebral fusion thoracic, vertebral fusion lumbar, vertebral fusion sacraal; dysmorphism; short neck; scoliosis; no webbing; contractures neck; no absent finger flexion creases 2 1 Johan den Dunnen
00307991 Fam4Pat7 PubMed: Cameron-Christie 2018 family, 2 affected, unaffected heterozygous carrier parents F - Bangladesh - - - - - ? see paper; ..., vertebral fusion thoracic, vertebral fusion lumbar; no carpal-tarsal fusion; no dysmorphism; short neck; scoliosis; webbing elbows; contractures elbows, contractures knees; no absent finger flexion creases 2 1 Johan den Dunnen
00307992 Fam4Pat8 PubMed: Cameron-Christie 2018 brother M - Bangladesh - - - - - ? see paper; ..., vertebral fusion cervical (thoracic and lumbar posterior arches only); no carpal-tarsal fusion; no dysmorphism; scoliosis; webbing neck; contractures elbows, contractures fingers; absent finger flexion creases; club foot 2 1 Johan den Dunnen
00307993 Pat9 PubMed: Cameron-Christie 2018 - F - Australia - - - - - ? see paper; ..., vertebral fusion cervical, vertebral fusion thoracic, vertebral fusion lumbar; carpal-tarsal fusion; no dysmorphism; short neck; scoliosis; contractures elbows; no absent finger flexion creases 1 1 Johan den Dunnen
00307994 Pat10 PubMed: Cameron-Christie 2018 - M - France - - - - - ? see paper; ..., vertebral fusion thoracic; carpal-tarsal fusion; scoliosis; webbing neck (2/4), webbing elbows (1/4), webbing knees (1/4) 2 1 Johan den Dunnen
00307995 R06-109A PubMed: Zieba 2017 family M - United States - - - - - ? see paper; ..., mild short stature; no cervical vertebral fusions; thoracic vertebral fusions; lumbar vertebral fusions; sacral fusions; carpal fusions; tarsal fusions; cleft palate; delayed bone age; no camptodactyly; no foot contractures; 6th digit clinodactyly; no clubbed feet; no limited elbow extenstion; no facial contractures/dysmorphisms; no microcephaly; no craniosynostosis; no cleft palate; short neck; no shoulder contractures; no hip/knee contractures; no cortical thumbs; no webbing of fingers; no mental retardation; no hyperpyrexia; no inguinal hernia; no mutiple ptyergium 1 1 Johan den Dunnen
00307996 R07-183B PubMed: Zieba 2017 family F - United States - - - - - ? see paper; ..., mild short stature; cervical vertebral fusions; thoracic vertebral fusions; lumbar vertebral fusions; no sacral fusions; carpal fusions; tarsal fusions; no cleft palate; mild camptodactyly; no foot contractures; 7th digit clinodactyly; no clubbed feet; limited elbow extenstion; no facial contractures/dysmorphisms; no microcephaly; no craniosynostosis; cleft palate family history in one individual; short neck; no shoulder contractures; no hip/knee contractures; no cortical thumbs; webbing of fingers; no mental retardation; no hyperpyrexia; inguinal hernia family history in one affected individual; no mutiple ptyergium 1 1 Johan den Dunnen
00307997 R12-336A PubMed: Zieba 2017 family F - United States - - - - - ? see paper; ..., mild short stature; cervical vertebral fusions; thoracic vertebral fusions; lumbar vertebral fusions; sacral fusions; carpal fusions; tarsal fusions; no cleft palate; no camptodactyly; no foot contractures; 8th digit clinodactyly; no clubbed feet; limited elbow extenstion; no facial contractures/dysmorphisms; no microcephaly; no craniosynostosis; no cleft palate; no short neck; no shoulder contractures; torn meniscus; no cortical thumbs; no webbing of fingers; no mental retardation; no hyperpyrexia; no inguinal hernia; no mutiple ptyergium 1 1 Johan den Dunnen
00374116 - PubMed: Lefebvre 2021 fetus M - France - - - - - ? 24w-fetus, ultrasound Arthrogryposis; autopsy Distal arthogryposis, unilateral preaxial hexadactyly; unilateral preaxial hexadactyly 1 1 Johan den Dunnen
00398956 Fam53Pat59 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - MYOP newborn congenital talipes equinovarus; 1y3m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; no proximal weaksness, distal weakness; 9y-no cardiac involvement 1 1 Johan den Dunnen
00428224 Fam5PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected fetus M - Germany - <0d - - - ? termination pregnancy 25w; reduced fetal movements; contractures wrists, knees, ankles; abnormal facial profile with long philtrum; bent lower leg bones (bilateral) 1 1 Johan den Dunnen
00435517 Pat40 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, family, has father with similar phenotype M - - - - - - - NDD see paper; ..., 1st and 2nd trimester bleeding; birth 41w; language/speech delay, 24-30m-first words; motor delay, 19m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no use psychiatric drugs; no sleep disturbances; moderate global developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; prominent fingertip pads; no pectus excavatum; downward sloping shoulders, proportionate tall stature, talipes; downturned corners of mouth; cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 3 days; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00442775 Pat147 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00442812 Pat184 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00443810 Pat563 PubMed: Imafidon 2021 prenatal indication abnormal ultrasound M - Netherlands - - - - - ? cryptorchidism, clubfoot, dysmorphic features 1 1 Johan den Dunnen
00459490 ASF01 - - F - Pakistan - - - - - CPSFS1B defect lower right thoracic wall with herniation lower pole right lung; right kidney ectopically positioned 1 1 Amatul Raqeeb Jawaid
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