Phenotypes for disease #00133 (WVS (Weaver syndrome (WVS)), OMIM:277590)

61 entries on 1 page. Showing entries 1 - 61.
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Individual ID     
0000034358 - - Unknown - - - - suspected Weaver-Syndrome - - - Andreas Laner 00035727
0000034364 - - Unknown - - - - suspected Weaver-Syndrom, combined developmental delay, adipositas, macrocephaly - - - Andreas Laner 00035724
0000034622 - - Isolated (sporadic) - - - - 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 overgrowth prenatal - - William Gibson 00047260
0000034623 - - Isolated (sporadic) - - - - 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) overgrowth prenatal hypotonia - Ana Cohen 00047261
0000034624 - - Isolated (sporadic) - - - - 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) overgrowth prenatal hypotonia - Ana Cohen 00047262
0000034625 - - Isolated (sporadic) - - - - 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 overgrowth prenatal - - Ana Cohen 00047263
0000034626 - - Isolated (sporadic) - - - - 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 overgrowth prenatal hypotonia - Ana Cohen 00047264
0000034627 - - Isolated (sporadic) - - - - 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 overgrowth prenatal hypotonia - Ana Cohen 00047265
0000034628 - - Isolated (sporadic) - - - - 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 overgrowth prenatal - - Ana Cohen 00047266
0000034631 - - Isolated (sporadic) - - - - 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 - hypotonia - Ana Cohen 00047269
0000034632 - - Isolated (sporadic) - - - - 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 - hypotonia - Ana Cohen 00047270
0000034633 - - Isolated (sporadic) - - - - Height +3.6 SD, Head circumference + 3.2 SD, Birth weight +1.4 SD, Camptodactyly, ""boutonniere " "{PMID24214728:Tatton-Brown 2013} - - Ana Cohen 00047271
0000034634 - - Isolated (sporadic) - - - - Height +6 SD, Head circumference + 4.9 SD, Moderate intellectual disability, Birth weight +3.5 SD, ""boutonniere "", Epilepsy, Pectus excavatum - - - Ana Cohen 00047272
0000034635 - - Isolated (sporadic) - - - - 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 - - - Ana Cohen 00047273
0000034636 - - Unknown - - - - 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 - hypotonia - Ana Cohen 00047274
0000034637 - - Isolated (sporadic) - - - - 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) - hypotonia - Ana Cohen 00047275
0000034638 - - Isolated (sporadic) - - - - Height +2.9 SD, Mild intellectual disability, Advanced bone age, Median cleft palate, Strabismus - hypotonia - Ana Cohen 00047276
0000034639 - - Unknown - - - - Height +3.5 SD, Head circumference +1.5 SD, Birth weight +2.2 SD, Conductive hearing loss - - - Ana Cohen 00047277
0000034640 - - Unknown - - - - Height +5.6 SD, Head circumference +1.7 SD, Mild intellectual disability, Birth weight +3.4 SD, Clinodactyly - - - Ana Cohen 00047278
0000034641 - - Isolated (sporadic) - - - - Height +5 SD, Head circumference + 1.8 SD, Mild intellectual disability, Birth weight +2.9 SD, Camptodactyly, Doughy skin, ""boutonniere "", Ventricular septal defect - hypotonia - Ana Cohen 00047279
0000034642 - - Isolated (sporadic) - - - - Height +7.6 SD, Head circumference +2.7 SD, Birth weight +3.8 SD, Camptodactyly, Doughy skin, Umbilical hernia - - - Ana Cohen 00047280
0000034643 - - Isolated (sporadic) - - - - Height +5.3 SD, Head circumference +2 SD, Birth weight +4.6 SD, Camptodactyly, Umbilical hernia, Advanced bone age - - - Ana Cohen 00047281
0000034644 - - Isolated (sporadic) - - - - 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) - - - Ana Cohen 00047282
0000034645 - - Isolated (sporadic) - - - - Height +4.6 SD, Head circumference +2.2 SD, Moderate intellectual disability, Hypertonia, Camptodactyly, Doughy skin, Advanced bone age, Clinodactyly - - - Ana Cohen 00047283
0000034647 - - Unknown - - - - Height +3.3 SD, Head circumference +3 SD, Mild intellectual disability, Birth weight +3.8 SD, Camptodactyly, Advanced bone age - - - Ana Cohen 00047285
0000079573 - - Isolated (sporadic) - - - - - - - - Johan den Dunnen 00101369
0000079574 - - Isolated (sporadic) - - - - - - - - Johan den Dunnen 00101371
0000223793 - Weaver syndrome Isolated (sporadic) - WVS - - see paper; ... - - - Johan den Dunnen 00296379
0000223823 - Weaver syndrome Familial, autosomal dominant - 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 - - - Johan den Dunnen 00296410
0000223824 - Weaver syndrome Familial, autosomal dominant - 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; - - - Johan den Dunnen 00296411
0000223825 - Weaver syndrome Familial, autosomal dominant - 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 - - - Johan den Dunnen 00296412
0000223826 - Weaver syndrome Unknown - 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 - - - Johan den Dunnen 00296413
0000223827 - Weaver syndrome Isolated (sporadic) - 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; - - - Johan den Dunnen 00296414
0000223828 - Weaver syndrome Unknown - 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” - - - Johan den Dunnen 00296415
0000223829 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296416
0000223830 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296417
0000223831 - Weaver syndrome Familial, autosomal dominant - 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 - - - Johan den Dunnen 00296418
0000223832 - Weaver syndrome Familial, autosomal dominant - WVS - - no tumor; - - - Johan den Dunnen 00296419
0000223833 - Weaver syndrome Familial, autosomal dominant - 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 - - - Johan den Dunnen 00296420
0000223834 - Weaver syndrome Familial, autosomal dominant - 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; - - - Johan den Dunnen 00296421
0000223835 - Weaver syndrome Familial, autosomal dominant - WVS - - mild intellectual disability; no tumor; R shoulder dislocation - - - Johan den Dunnen 00296422
0000223836 - Weaver syndrome Familial, autosomal dominant - WVS - - current height +4 SD; no intellectual disability; no tumor; - - - Johan den Dunnen 00296423
0000223837 - Weaver syndrome Unknown - WVS - - birth weight +2.8 SD, length +2.6 SD, OFC +2.4 SD, current height +3.9 SD; hypotonia; no tumor; - - - Johan den Dunnen 00296424
0000223838 - Weaver syndrome Familial, autosomal dominant - 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 - - - Johan den Dunnen 00296425
0000223839 - Weaver syndrome Familial, autosomal dominant - WVS - - OFC +0.6 SD, current height +1.2 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no umbilical hernia; no tumor; - - - Johan den Dunnen 00296426
0000223840 - Weaver syndrome Unknown - WVS - - birth weight +2.1 SD, OFC +0.4 SD, current height +6.9 SD; no tumor; advanced bone age; - - - Johan den Dunnen 00296427
0000223841 - Weaver syndrome Unknown - WVS - - birth weight +0.9 SD, length +2 SD, current height +3 SD; moderate intellectual disability; no tumor; advanced bone age; febrile seizures, ventriculomeg - - - Johan den Dunnen 00296428
0000223842 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296429
0000223843 - Weaver syndrome Isolated (sporadic) - 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; - - - Johan den Dunnen 00296430
0000223844 - Weaver syndrome Familial, autosomal dominant - 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 - - - Johan den Dunnen 00296431
0000223845 - Weaver syndrome Familial, autosomal dominant - 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; - - - Johan den Dunnen 00296432
0000223846 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296433
0000223847 - Weaver syndrome Unknown - 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 - - - Johan den Dunnen 00296434
0000223848 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296435
0000223849 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296436
0000223850 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296437
0000223851 - Weaver syndrome Isolated (sporadic) - 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; - - - Johan den Dunnen 00296438
0000223852 - Weaver syndrome Isolated (sporadic) - 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 - - - Johan den Dunnen 00296439
0000223853 - Weaver syndrome Unknown - 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 - - - Johan den Dunnen 00296440
0000223854 - Weaver syndrome Unknown - 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 - - - Johan den Dunnen 00296441
0000231986 - - Unknown - - - - - - - - Sha Hong 00306142
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