Global Variome shared LOVD
ZC4H2 (zinc finger, C4H2 domain containing)
LOVD v.3.0 Build 25c [
Current LOVD status
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View all transcripts of gene ZC4H2
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View all variants in gene ZC4H2
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All individuals with variants in gene ZC4H2
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.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
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
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
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.
42 entries on 1 page. Showing entries 1 - 42.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00050669
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected sibling(s), unaffected heterozygous carrier mother
M
-
United Kingdom (Great Britain)
-
-
0
Decipher
-
?
global developmental delay, talipes equinovarus, hypermetropia, stereotypic behavior
1
2
Johan den Dunnen
00050670
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
sib2
M
-
United Kingdom (Great Britain)
-
-
0
Decipher
-
?
global developmental delay, talipes equinovarus, ptosis, generalized hypotonia
1
1
Johan den Dunnen
00173465
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00183130
Family 1 / FamD139
PubMed: Hirata 2013
,
PubMed: Hu 2016
family, 6 affected males, 5 unaffected heterozygous carrier females
M
-
Germany
-
-
0
-
-
MRX;IDX
ong (flat) philtrum (HP:0000299) (1); ptosis (HP:0001488) (6); carp-shaped mouth (HP:0010806) (1); narrow shoulders or thorax (HP:0006664) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (6); distal muscle weakness (HP:0002460) (6); retardation of motor development (HP:0001263) (6); intellectual disability (HP:0001249) (6)
1
6
Johan den Dunnen
00183164
Family 5 males / FamP195
PubMed: Hirata 2013
,
PubMed: Hu 2016
4-generation family, 2 affected males, 2 symptomatic heterozygous carrier female
M
-
France
-
-
0
-
-
MRX;IDX
dwarfism (HP:0001516) (1); oral motor dysfunction (HP:0005216) (2); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); broad alveolar ridges (HP:0000187) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (2); short neck (with limited rotation) (HP:0000470) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); distal muscle weakness (HP:0002460) (2); ( (; retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (1); seizures (HP:0001250) (2); MRI diffuse cerebral atrophy (HP:0002283) (1)
1
4
Johan den Dunnen
00234016
Fam2
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234017
Fam3
Frints 2019, submitted
family, 1 affected male, 1 affected female, healthy carrier mother (mosaic)
F;M
-
Netherlands
-
-
0
-
-
WRWF
-
1
2
Vera Kalscheuer
00234018
Fam4
Frints 2019, submitted
family, 1 affected male, healthy carrier mother
M
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234019
Fam5
Frints 2019, submitted
family, 2 affected males, 1 mildly affected carrier female, 1 healthy carrier female
F;M
-
Netherlands
-
-
0
-
-
WRWF
-
1
3
Vera Kalscheuer
00234020
Fam6
Frints 2019, submitted
family, 1 affected (1M), 1 carrier mother very mildly affected
F
-
-
-
-
0
-
-
WRWF
-
1
2
Vera Kalscheuer
00234021
Fam7
Frints 2019, submitted
-
F;M
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234022
Fam8
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234023
Fam9
Frints 2019, submitted
family, 4 affected (4M), 5 heterozygous carrier female, 2 mildly affected
F;M
-
-
-
-
0
-
-
WRWF
-
1
6
Vera Kalscheuer
00234024
Fam10
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234025
Fam11
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234026
Fam12
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234027
Fam13
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234028
Fam14
Frints 2019, submitted
-
F
-
United Kingdom (Great Britain)
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234029
Fam15
Frints 2019, submitted
-
F
-
United Kingdom (Great Britain)
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234030
Fam16
Frints 2019, submitted
-
F
-
United Kingdom (Great Britain)
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234031
Fam17
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234032
Fam18
Frints 2019, submitted
-
M
-
United Kingdom (Great Britain)
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234033
Fam19
Frints 2019, submitted
family, 1 affected, healthy carrier mother
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234034
Fam20
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234035
Fam21
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234036
Fam22
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234037
Fam23
Frints 2019, submitted
-
F
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234038
Fam24
Frints 2019, submitted
-
M
-
-
-
-
0
-
-
WRWF
-
1
1
Vera Kalscheuer
00234040
Family 2-M
PubMed: Hirata 2013
5-generation family, 5 affected males, 1 symptomatic heterozygous carrier female
M
-
Germany
-
-
0
-
-
WRWF
dwarfism (HP:0001516) (2); long (flat) philtrum (HP:0000299) (2); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (2); ptosis (HP:0001488) (3); upturned nares (HP:0000463) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (3); short neck (with limited rotation) (HP:0000470) (2); neonatal respiratory distress (HP:0002643) (3); humeroscapular mobility restriction (HP:0006467) (2); narrow shoulders or thorax (HP:0006664) (3); poor feeding (HP:0002022) (4); kyphosis, lordosis or scoliosis (HP:0002751) (3); congenital hip dislocations or hip flexion contractures (HP:0001374) (4); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (3); proximally placed thumbs (HP:0009623) (2); camptodactyly (HP:0001215) (5); ulnar deviation finger (HP:0009465) (3); proximally placed toes (HP:0001780) (4); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (5); high anterior hairline (HP:0000294) (2); distal muscle weakness (HP:0002460) (2); edema or fat pads (hands and/or feet) (HP:0007514) (3); retardation of motor development (HP:0001263) (5); intellectual disability (HP:0001249) (5); spasticity (HP:0001257) (5); seizures (HP:0001250) (4); MRI delayed myelination (HP:0002188) (2); MRI diffuse cerebral atrophy (HP:0002283) (3)
1
6
Johan den Dunnen
00234041
Family 2-F
PubMed: Hirata 2013
heterozygous females
F
-
Germany
-
-
0
-
-
WRWF
equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1)
1
1
Johan den Dunnen
00234042
Family 3-M
PubMed: Hirata 2013
4-generation family, 5 affected males, 7 symptomatic heterozygous carrier female
M
-
Netherlands
-
-
0
-
-
WRWF
dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (5); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (5); broad alveolar ridges (HP:0000187) (5); high-arched palate (HP:0000218) (5); carp-shaped mouth (HP:0010806) (5); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (5); humeroscapular mobility restriction (HP:0006467) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (2); short limbs (HP:0009826) (2); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (2); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (2); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); high anterior hairline (HP:0000294) (5); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1)
1
12
Johan den Dunnen
00234043
Family 3-F
PubMed: Hirata 2013
heterozygous females
F
-
Netherlands
-
-
0
-
-
WRWF
urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (3); intellectual disability (HP:0001249) (3); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (3); camptodactyly (HP:0001215) (5)
1
7
Johan den Dunnen
00234044
Family 4-M
PubMed: Hirata 2013
2-generation family, 2 affected males, 1 symptomatic heterozygous carrier female
M
-
Australia
-
-
0
-
-
WRWF
drooling (HP:0002307) (2); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (2); seizures (HP:0001250) (1);
1
3
Johan den Dunnen
00234045
Family 4-F
PubMed: Hirata 2013
heterozygous female
F
-
Australia
-
-
0
-
-
WRWF
intellectual disability (HP:0001249) (1)
1
1
Johan den Dunnen
00234047
Family 5-F
PubMed: Hirata 2013
heterozygous females
F
-
France
-
-
0
-
-
WRWF
intellectual disability (HP:0001249) (2)
1
2
Johan den Dunnen
00234048
simplex case 1
PubMed: Hirata 2013
sporadic male patient
M
-
Germany
-
-
0
-
-
WRWF
dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (1); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (1); broad alveolar ridges (HP:0000187) (1); high-arched palate (HP:0000218) (1); carp-shaped mouth (HP:0010806) (1); drooling (HP:0002307) (1); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (1); humeroscapular mobility restriction (HP:0006467) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (1); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); high anterior hairline (HP:0000294) (1); distal muscle weakness (HP:0002460) (1); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); spasticity (HP:0001257) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1); MRI diffuse cerebral atrophy (HP:0002283) (1)
1
1
Johan den Dunnen
00234049
simplex case 2
PubMed: Hirata 2013
heterozygous female
F
-
United States
-
-
0
-
-
WRWF
urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1)
1
1
Johan den Dunnen
00234050
simplex case 3
PubMed: Hirata 2013
heterozygous female
F
-
Spain
-
-
0
-
-
WRWF
urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1)
1
1
Johan den Dunnen
00306143
79
-
-
F
-
China
-
-
-
-
-
WRWF
-
1
1
Sha Hong
00307187
D15-0320
PubMed: Ravenscroft 2020
,
Journal: Ravenscroft 2020
-
-
-
Australia
-
-
0
-
-
DA
distal arthrogryposis; rocker bottom foot; hip contracture; amyoplasia
1
1
Gianina Ravenscroft
00307214
D17-0141
PubMed: Ravenscroft 2020
,
Journal: Ravenscroft 2020
-
-
-
Australia
-
-
0
-
-
DA
distal arthrogryposis; abnormality extraocular muscles
1
1
Gianina Ravenscroft
00307217
D17-0639
PubMed: Ravenscroft 2020
,
Journal: Ravenscroft 2020
-
-
-
Australia
-
-
0
-
-
DA
distal arthrogryposis; weakness of facial musculature; ptosis; keratosis pilaris; sleep apnea; atrial septal defect; dilatation renal pelvis
1
1
Gianina Ravenscroft
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