Global Variome shared LOVD
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotypes for disease #00133 (WVS (Weaver syndrome (WVS)), OMIM:277590)
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Diagnosis/Initial
: initial diagnosis, before molecular testing
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Growth
: does the individual have abnormal growth (pre- and post-natal)
All options:
normal = normal growth
abnormal = growth abnormality (HP:0001507)
delayed = delayed (HP:00001510)
overgrowth = overgrowth (HP:0001548)
overgrowth prenatal = prenatal overgrowth (HP:0001548)
overgrowth postnatal = postnatal overgrowth (HP:0001548)
retardation prenatal = prenatal growth retardation (HP:0001511, IUGR)
no retardation prenatal = no prenatal growth retardation (-HP:0001511)
retardation prenatal mild = mild prenatal growth retardation (HP:0008883)
retardation prenatal moderate = moderate prenatal growth retardation (HP:0011408)
retardation prenatal severe = severe prenatal growth retardation (HP:0008846)
retardation postnatal = postnatal growth retardation (HP:0008897)
retardation postnatal mild = mild postnatal growth retardation (HP:0001530)
retardation postnatal moderate = moderate postnatal growth retardation (HP:0008855)
retardation postnatal severe = severe postnatal growth retardation (HP:0008850)
? = unknown
n/a = not analysed
Hypotonia
: does the individual have hypotonia (please specify)
All options:
appendicular = appendicular hypotonia (HP:0012389)
central = central hypotonia (HP:0011398)
facial = facial hypotonia (HP:0000297)
episodic generalized = episodic generalized hypotonia (HP:0006852)
generalized = generalized hypotonia (HP:0001290, +)
generalized defect NMJ = generalized hypotonia due to defect at neuromuscular junction (HP:0003397)
infantile axial = infantile axial hypotonia (HP:0009062)
infantile muscular = infantile muscular hypotonia (HP:0008947)
muscular = muscular hypotonia (HP:0001252)
muscular severe = severe muscular hypotonia (HP:0006829)
muscular trunk = muscular hypotonia trunk (HP:0008936)
neonatal = neonatal hypotonia (HP:0001319)
neonatal generalized = generalized neonatal hypotonia (HP:0008935)
neonatal severe males = severe neonatal hypotonia in males (HP:0006830)
oral motor = oral motor hypotonia (HP:0030190)
no = no hypotonia (-)
? = unknown
n/a = not analysed
Protein
: result from protein staining
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
61 entries on 1 page. Showing entries 1 - 61.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
Phenotype ID
Age/Onset
Diagnosis/Initial
Inheritance
Age/Examination
Diagnosis/Definite
Age/Diagnosis
Phenotype/Onset
Phenotype details
Growth
Hypotonia
Protein
Owner
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
10 per page
25 per page
50 per page
100 per page
Legend
How to query
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators