Disease #00133 (WVS (Weaver syndrome (WVS)), OMIM:277590)

Official abbreviation WVS
Name Weaver syndrome (WVS)
OMIM ID 277590
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 63
Phenotype entries for this disease 61
Associated with 1 gene EZH2
Associated tissues -
Disease features -
Remarks -
Date created 2013-05-17 15:33:21 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


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63 entries on 1 page. Showing entries 1 - 63.
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00035724 - - - - - Germany - - - - - WVS suspected Weaver-Syndrom, combined developmental delay, adipositas, macrocephaly EZH2 EZH2 1 1 Andreas Laner
00035727 - - - - - Germany - - - - - WVS suspected Weaver-Syndrome EZH2 EZH2 1 1 Andreas Laner
00047260 Proband1 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States white - - - - WVS Accelerated osseous maturation Hypertonia Hoarse, low-pitched cry Intellectual disability (Mild) Excessive appetite Ventriculomegaly Seizures (Tonic-Clonic) Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Talipes equinovarus Short fourth metatarsals Limited elbow and knee extension Widened distal femurs and ulnas Excessive loose skin Inverted nipples Thin hair Umbilical hernia Inguinal hernia Scoliosis (degrees) Hypothyroidism Growth hormone deficiency EZH2 EZH2 1 1 William Gibson
00047261 Proband2 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - WVS Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (bordeline-mild) Excessive appetite Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Excessive loose skin Increased pigmented nevi Umbilical hernia Scoliosis (10 degrees) EZH2 EZH2 1 1 Ana Cohen
00047262 Proband3 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - WVS Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (mild) Delayed myelination Cerebellar hypoplasia (mild) Seizures (brief absence at 15 years) Poor fine motor coordination Poor balance and gravitational insecurity Fatty filum terminale Macrocephaly Large bifrontal diameter Flat occiput Large ears Downslanted palpebral fissures Long philtrum Retrognathia Patent ductus arteriosus Prominent digit pads Thin, deep-set nails Hind foot valgus Limited elbow and knee extension in early life Limited elbow and knew extension after puberty Increased pigmented nevi Umbilical hernia Scoliosis (16 degrees) EZH2 EZH2 1 1 Ana Cohen
00047263 Proband4 PubMed: Huffman 2001, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - WVS Accelerated osseous maturation Hypertonia in knees Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears with hearing loss Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Patent ductus arteriosus Ventricular septal defect Prominent digit pads Single transverse palmar crease Clinodactyly, toes Talipes equinovarus Limited elbow and knee extension in early life Widened distal femurs and ulnas Excessive loose skin Hypoplastic/supernumerary nipples Increased pigmented nevi Umbilical hernia Diastasis recti Kyphosis Hypoglycemia, perinatal euroblastoma at birth, resolved EZH2 EZH2 1 1 Ana Cohen
00047264 Proband5 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no (Canada) white - - - - WVS Accelerated osseous maturation Hypertonia, peripheral abdominal Hoarse, low-pitched cry Intellectual disability Excessive appetite Seizures (1 GTC febrile-associated around 9 months) Polymicrogyria (asymmetric perisylvian) Poor fine motor coordination Poor balance and gravitational insecurity Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Single transverse palmar crease Thin, deep-set nails Limited elbow and knee extension in early life Excessive loose skin Hypoplastic/supernumerary nipples Scoliosis (mild, resolved) Hypoglycemia at birth, resolved EZH2 EZH2 1 1 Ana Cohen
00047265 Proband6 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - WVS Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Prominent digit pads Camptodactyly Thin, deep-set nails Excessive loose skin Hypoplastic/supernumerary nipples Umbilical hernia Kyphosis euroblastoma, prenatal EZH2 EZH2 1 1 Ana Cohen
00047266 Proband7 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France white - - - - WVS Hypertonia Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Prominent digit pads Single transverse palmar crease Umbilical hernia Diastasis recti EZH2 EZH2 1 1 Ana Cohen
00047269 Case1/Case5 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +2.2 SD, Head circumference + 0.3 SD, Mild intellectual disability, Birth weight +0.7 SD, Birth length +2 SD, Doughy skin, Advanced bone age,Talipes, Scoliosis, Pectus carinatum EZH2 EZH2 1 1 Ana Cohen
00047270 Case3/Case19 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +2.6 SD, Head circumference + 2.3 SD, Mild intellectual disability, Birth weight +1.3 SD, Birth length + 4.9 SD, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Fusion of C2/3, Pectus Excavatum EZH2 EZH2 1 1 Ana Cohen
00047271 Case4/Case22 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +3.6 SD, Head circumference + 3.2 SD, Birth weight +1.4 SD, Camptodactyly, ""boutonniere " EZH2 EZH2 1 1 Ana Cohen
00047272 Case5/Case23 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +6 SD, Head circumference + 4.9 SD, Moderate intellectual disability, Birth weight +3.5 SD, ""boutonniere "", Epilepsy, Pectus excavatum EZH2 EZH2 1 1 Ana Cohen
00047273 Case6/Case28 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +5 SD, Head circumference + 3 SD, Mild intellectual disability, Birth weight +1.5 SD, Hypertonia, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Mitral valve prolapse, Cavum septum pellucidum, Clinodactyly EZH2 EZH2 1 1 Ana Cohen
00047274 Case7/Case29 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +3.8 SD, Head circumference + 3.2 SD, Moderate intellectual disability, Birth weight +0.1 SD, Birth length +2.3 SD, Hypertonia, Camptodactyly, Umbilical hernia, Advanced bone age EZH2 EZH2 1 1 Ana Cohen
00047275 Case8/Case31 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 Cancer development M - - - - - - - WVS Height +4.2 SD, Head circumference +1.8 SD, Mild intellectual disability, Birth weight -0.4 SD, Birth length +1.5 SD, Hypertonia, Doughy skin, Advanced bone age, Hypospadias, Cerebral ventriculomegaly, NEUROBLASTOMA (onset 13m), ACUTE LYMPHOBLASTIC LEUKEMIA (onset 13m) EZH2 EZH2 1 1 Ana Cohen
00047276 Case9/Case33 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +2.9 SD, Mild intellectual disability, Advanced bone age, Median cleft palate, Strabismus EZH2 EZH2 1 1 Ana Cohen
00047277 Case10/Case34 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +3.5 SD, Head circumference +1.5 SD, Birth weight +2.2 SD, Conductive hearing loss EZH2 EZH2 1 1 Ana Cohen
00047278 Case12/Case36 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +5.6 SD, Head circumference +1.7 SD, Mild intellectual disability, Birth weight +3.4 SD, Clinodactyly EZH2 EZH2 1 1 Ana Cohen
00047279 Case13/Case38 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +5 SD, Head circumference + 1.8 SD, Mild intellectual disability, Birth weight +2.9 SD, Camptodactyly, Doughy skin, ""boutonniere "", Ventricular septal defect EZH2 EZH2 1 1 Ana Cohen
00047280 Case14/Case40 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +7.6 SD, Head circumference +2.7 SD, Birth weight +3.8 SD, Camptodactyly, Doughy skin, Umbilical hernia EZH2 EZH2 1 1 Ana Cohen
00047281 Case18/Case43 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 Mild intellectual disability? F - - - - - - - WVS Height +5.3 SD, Head circumference +2 SD, Birth weight +4.6 SD, Camptodactyly, Umbilical hernia, Advanced bone age EZH2 EZH2 1 1 Ana Cohen
00047282 Case19/Case45 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 Cancer development M - - - - - - - WVS Height +3.5 SD, Head circumference +1.8 SD, Mild to moderate intellectual disability, Birth weight +0.6 SD, Birth length +0.5 SD, Hypertonia, Strabismus, Scoliosis, Talipes, NON-HODGKINS LYMPHOMA (onset at 13y) EZH2 EZH2 1 1 Ana Cohen
00047283 Case16/Case46 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS Height +4.6 SD, Head circumference +2.2 SD, Moderate intellectual disability, Hypertonia, Camptodactyly, Doughy skin, Advanced bone age, Clinodactyly EZH2 EZH2 1 1 Ana Cohen
00047285 Case44 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS Height +3.3 SD, Head circumference +3 SD, Mild intellectual disability, Birth weight +3.8 SD, Camptodactyly, Advanced bone age EZH2 EZH2 1 1 Ana Cohen
00101369 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - - - - WVS - NSD1 NSD1 1 1 Johan den Dunnen
00101370 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - - - - WVS - NSD1 NSD1 1 1 Johan den Dunnen
00101371 - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - - - - WVS - NSD1 NSD1 1 1 Johan den Dunnen
00164478 - - - F no - - - - - - WVS - EZH2 EZH2 1 1 Patrick R. Blackburn
00296379 DiscoveryPat8 PubMed: Choufani 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - WVS see paper; ... EZH2 EZH2 1 1 Johan den Dunnen
00296410 Case1 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2.6 SD, OFC +5.5 SD, current height +4.5 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; periventricular leukomalacia, clinodactyly EZH2 EZH2 1 1 Johan den Dunnen
00296411 Case2 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS OFC +1.9 SD, current height +3.3 SD; no intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296412 Case3 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS OFC +2.5 SD, current height +0.1 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; hypertension EZH2 EZH2 1 1 Johan den Dunnen
00296413 Case4 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +1.8 SD, OFC +3.6 SD, current height -0.7 SD; mild intellectual disability; hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; scoliosis, idiopathic thrombocytopenic purpura EZH2 EZH2 1 1 Johan den Dunnen
00296414 Case6 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2 SD, OFC +2.1 SD, current height +2.7 SD; moderate intellectual disability; hypotonia; no camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age; EZH2 EZH2 1 1 Johan den Dunnen
00296415 Case7 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +4.2 SD, length +4.2 SD, OFC +2.9 SD, current height +4.2 SD; severe intellectual disability; hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; scoliosis, clinodactyly, “boutonniere” EZH2 EZH2 1 1 Johan den Dunnen
00296416 Case8 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +1.8 SD, OFC +0.8 SD, current height +2 SD; mild intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; strabismus EZH2 EZH2 1 1 Johan den Dunnen
00296417 Case9 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +0.7 SD, OFC +0.4 SD, current height +3.5 SD; moderate intellectual disability; no hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; 2/3 toe syndactyly, cerebellar infarct EZH2 EZH2 1 1 Johan den Dunnen
00296418 Case2/Case10 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +1.3 SD, length +3.9 SD, OFC +1.5 SD, current height +3.4 SD; mild intellectual disability; no hypertonia; no hypotonia; umbilical hernia; no tumor; advanced bone age; conductive hearing loss EZH2 EZH2 1 1 Johan den Dunnen
00296419 Case11 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296420 Case12 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +1.1 SD, length +1.8 SD, OFC +1.6 SD, current height +2 SD; mild intellectual disability; no hypertonia; no hypotonia; camptodactyly; umbilical hernia; no tumor; talipes EZH2 EZH2 1 1 Johan den Dunnen
00296421 Case13 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight -0.6 SD, length +1.1 SD, OFC +1.3 SD, current height +3.7 SD; moderate intellectual disability; no hypertonia; no hypotonia; umbilical hernia; no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296422 Case14 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS mild intellectual disability; no tumor; R shoulder dislocation EZH2 EZH2 1 1 Johan den Dunnen
00296423 Case15 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS current height +4 SD; no intellectual disability; no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296424 Case16 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2.8 SD, length +2.6 SD, OFC +2.4 SD, current height +3.9 SD; hypotonia; no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296425 Case17 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight -1.6 SD, OFC +0.3 SD, current height +2 SD; moderate intellectual disability; no hypertonia; no hypotonia; no camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age; cone shaped epiphyses EZH2 EZH2 1 1 Johan den Dunnen
00296426 Case18 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS OFC +0.6 SD, current height +1.2 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no umbilical hernia; no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296427 Case20 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2.1 SD, OFC +0.4 SD, current height +6.9 SD; no tumor; advanced bone age; EZH2 EZH2 1 1 Johan den Dunnen
00296428 Case21 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +0.9 SD, length +2 SD, current height +3 SD; moderate intellectual disability; no tumor; advanced bone age; febrile seizures, ventriculomeg EZH2 EZH2 1 1 Johan den Dunnen
00296429 Case24 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +0.4 SD, OFC -1.5 SD, current height +2.2 SD; mild intellectual disability; no hypertonia; no hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; talipes, clinodactyly EZH2 EZH2 1 1 Johan den Dunnen
00296430 Case25 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2.3 SD, length +2 SD, OFC +2.3 SD, current height +5.2 SD; mild intellectual disability; no hypertonia; no hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; EZH2 EZH2 1 1 Johan den Dunnen
00296431 Case26 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +0.7 SD, length +0.7 SD, OFC +1.2 SD, current height +2.3 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; umbilical hernia; no tumor; advanced bone age; neonatal hypocalcemia, ventriculomeg EZH2 EZH2 1 1 Johan den Dunnen
00296432 Case27 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +1.7 SD, length +3 SD, OFC +0.3 SD, current height +2 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; EZH2 EZH2 1 1 Johan den Dunnen
00296433 Case30 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +0.9 SD, length +2.2 SD, OFC +4 SD, current height +4.4 SD; moderate intellectual disability; hypertonia; no hypotonia; camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age; submucous cleft palate EZH2 EZH2 1 1 Johan den Dunnen
00296434 Case32 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +0.3 SD, length -0.5 SD, OFC +3.4 SD, current height +2.4 SD; mild intellectual disability; no tumor; advanced bone age; immune deficiency EZH2 EZH2 1 1 Johan den Dunnen
00296435 Case11/Case35 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +1.9 SD, OFC +2.6 SD, current height +2.7 SD; no intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; talipes, strabismus, scoliosis EZH2 EZH2 1 1 Johan den Dunnen
00296436 Case37 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +0.8 SD, length +3 SD, OFC +1.4 SD, current height +3.8 SD; moderate intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; cryptorchidism, clinodactyly EZH2 EZH2 1 1 Johan den Dunnen
00296437 Case39 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +1.1 SD, OFC +1.9 SD, current height +3.2 SD; no hypertonia; hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; ventriculomeg, clinodactyly, ventricular septal defect EZH2 EZH2 1 1 Johan den Dunnen
00296438 Case41 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight +2.3 SD, OFC +3 SD, current height +4.2 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; EZH2 EZH2 1 1 Johan den Dunnen
00296439 Case42 PubMed: Tatton-Brown 2013 - F - - - - - - - WVS birth weight -1.1 SD, length -0.1 SD, OFC +1.6 SD, current height +1.5 SD; moderate intellectual disability; hypertonia; no hypotonia; camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; scoliosis, ventriculomeg, periventricular leukomalacia, clinodactyly EZH2 EZH2 1 1 Johan den Dunnen
00296440 Case15/Case47 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - - - - WVS OFC +4.5 SD, current height +4.1 SD; mild intellectual disability; hypertonia; no hypotonia; camptodactyly; no doughy skin; umbilical hernia; no tumor; “boutonniere”, pectus excavatum, hydrocele EZH2 EZH2 1 1 Johan den Dunnen
00296441 Case48 PubMed: Tatton-Brown 2013 - M - - - - - - - WVS birth weight +3.2 SD, OFC -0.9 SD; severe intellectual disability; hypertonia; no hypotonia; camptodactyly; no doughy skin; no umbilical hernia; no tumor; talipes,scoliosis, pachy- and polymicrogyria EZH2 EZH2 1 1 Johan den Dunnen
00306142 78 - - F - China - - - - - WVS - EZH2 EZH2 1 1 Sha Hong
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