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 delay; 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
00469781 - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected parents - - India - - - - - skeletal dysplasia - 2 1 Johan den Dunnen
00472233 - Verebi et al. (submitted) - M - France - - - - - DA2B1 Congenital myastenic syndrome, Neck muscle weakness, Ptosis, Dysphagia, Poor suck, Sudden episodic apnea, Fatigable weakness, Proximal muscle weakness, Frontalis muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, Feeding difficulties, Decreased fetal movement, Difficulty walking, Easy fatigability, Spinal deformities, Motor delay, Dysphonia, Kyphoscoliosis, Spinal rigidity, Stridor, Low-set ears, Gastroesophageal reflux 1 1 Camille Verebi
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