All individuals with variants in gene EVC

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:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

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. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, 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.

95 entries on 1 page. Showing entries 1 - 95.

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
00058525	-	-	-	?	?	Brazil	-	-	-	-	-	EVC	-	1	1	Karina Silveira
00293637	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	126	Mohammed Faruq
00299448	Fam1	PubMed: Ayhan 2014	4-generation family, 3 affected brothers	M	yes	Turkey	-	-	-	-	-	INFM	see paper; ..., azoospermia (3/4), oligozoospermia (1/4)	1	3	Johan den Dunnen
00304999	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00307008	-	-	-	M	no	Italy	-	-	-	-	-	EVC	Partial AVCD with common atrium, postaxial polydactyly of the left hand and both feet, and agenesis of the upper lateral incisors bilaterally	4	1	Francesca Piceci Sparascio
00307010	-	-	-	F	no	Italy	-	-	-	-	-	EVC	Single atrium with partial AVCD, and persistent left superior vena cava draining into the left atrium. Bilateral postaxial polydactyly of hands (operated at 4 years) and feet. X-ray showed clinodactyly of the 5th finger, postaxial polydactyly of toes, proximal fusion between 3rd and 4th, and 5th and 6th toes and metatarsal bones at left. Nails showed no abnormalities. Oral anomalies included agenesis of both upper lateral incisors and lower central incisor bilaterally, and multiple frenula between the upper lip and gingiva.	4	1	Francesca Piceci Sparascio
00307090	Pat16086	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	parents not available	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00307091	Pat15219	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	2-generation family, 1 affected, unaffected heterozygous parents (father Weyers acrodental dysostosis)	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00307092	FamAmish	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	large multigeneration family	F;M	-	United States	Amish	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00307093	PatNCL16	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00307094	PatNCL14	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00307095	PatNCL12	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00307096	FanEVC015Pat16218	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	2-generation family, 1 affected, unaffected heterozygous parents/sister	F	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00307097	PatI1	affected father and daughter	-	F;M	-	-	-	-	-	-	-	EVC	father/daughter postaxial polydactyly hands and feet, partial atrioventricular canal with common atrium and agenesis upper lateral incisors bilaterally with enamel abnormalities	1	2	Johan den Dunnen
00307098	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307099	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307100	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307101	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307102	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307103	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307104	-	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00307127	Pat2	PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011	2-generation family, 1 affected, unaffacted parents	M	-	Sri Lanka	-	-	-	-	-	EVC	see paper; ..., height 151 cm; short limbs, polydactyly hands/right foot, no syndactyly, brachydactyly; nail dysplasia; genu valgum; atrial septal defect; hypodontia/dysplastic teeth	2	1	Johan den Dunnen
00325881	Pat10-3	PubMed: Sund 2009	-	M	-	United States	white, Hispanic	-	-	-	-	EVC	common atrium/partial AV canal, short stature, polydactyly	1	1	Johan den Dunnen
00325882	Pat4-12	PubMed: Sund 2009	-	F	-	United States	African American	-	-	-	-	EVC	ccommon atrium/partial AV canal, short stature, polydactyly	1	1	Johan den Dunnen
00325886	Fam1	PubMed: Temtamy 2008	4-generation family, 3 affected sibs (F, 2M)	F;M	yes	Egypt	-	-	-	-	-	EVC	see paper; ...	1	3	Johan den Dunnen
00325887	-	PubMed: Temtamy 2008	-	-	no	Italy	-	-	-	-	-	EVC	see paper; ...	2	1	Johan den Dunnen
00325888	52453	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325889	44736	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325890	39596	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325891	33411	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325892	31682	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325893	GC24941	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325894	19242	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325895	51185	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325896	GC30714	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325897	36148	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325898	34829	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325899	42597	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325900	31765	PubMed: Tompson 2007	-	-	-	Portugal	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325901	31773	PubMed: Tompson 2007	-	-	-	Portugal	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325902	13524	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325903	33566	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325904	29726	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325905	12705	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325906	11089	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325907	12539	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325908	GM13310	PubMed: Tompson 2007	-	-	-	United States	Amish	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325909	family	PubMed: Ulucan 2008	5-generation family, 13 affected (3F, 11M)	F;M	yes	Turkey	-	-	-	-	-	EVC	-	1	13	Johan den Dunnen
00326006	Pat1	PubMed: D'Asdia 2013	fetus	-	no	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, common atrium, tricuspid valve anomaly	1	1	Johan den Dunnen
00326007	Pat2	PubMed: D'Asdia 2013	-	M	yes	Portugal	-	-	-	-	-	EVC	short stature, postaxial polydactyly, hypoplasia of the third phalanges in hands and feet, nail hypoplasia, hypodontia, ichthyosis	1	1	Johan den Dunnen
00326008	Pat3	PubMed: D'Asdia 2013	-	M	no	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short limbs, short ribs, hypoplastic nails, multiple oral frenula	2	1	Johan den Dunnen
00326009	Pat4	PubMed: D'Asdia 2013	fetus	M	yes	Pakistan	-	-	-	-	-	EVC	postaxial polydactyly, short limbs, short ribs, pulmonary hypoplasia, atrial septal defect	1	1	Johan den Dunnen
00326010	Pat5	PubMed: D'Asdia 2013	-	F	yes	Iraq	-	-	-	-	-	EVC	short stature, postaxial polydactyly, neonatal teeth	1	1	Johan den Dunnen
00326011	Pat6	PubMed: D'Asdia 2013	-	M	no	Romania	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, hypodontia, abnormally shaped teeth, multiple oral frenula, narrow palate, atrial septal defect, club foot, frequent respiratory infections, facial anomalies	2	1	Johan den Dunnen
00326012	Pat7	PubMed: D'Asdia 2013	fetus	-	no	Australia	-	-	-	-	-	EVC	postaxial polydactyly, short limbs, short ribs, no oral frenulae, hypoplastic left ventricle, left ventricle outflow tract obstruction, ventricular septal defect, postaxial polydactyly, anteriorly placed anus, club feet, facial anomalies, syndactyly, coronal cleft in lumbar vertebrae, gallbladder hypoplasia, pyelectasia	2	1	Johan den Dunnen
00326013	Pat8	PubMed: D'Asdia 2013	fetus	M	no	Australia	-	-	-	-	-	EVC	postaxial polydactyly, short limbs, hypoplastic left heart with mitral stenosis, aortic valve atresia, left ventricular and aortic hypoplasia, micrognathia, facial anomalies, syndactyly	2	1	Johan den Dunnen
00326014	Pat9	PubMed: D'Asdia 2013	-	F	no	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, atrial septal defect, hypodontia, carpal bone fusion, bowed humeri, onychodystrophy, brachydactyly	2	1	Johan den Dunnen
00326015	Pat10	PubMed: D'Asdia 2013	fetus	F	yes	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short limbs, short ribs	1	1	Johan den Dunnen
00326016	Pat11	PubMed: D'Asdia 2013	-	M	no	Italy	-	-	-	-	-	EVC	postaxial polydactyly, hypoplastic nails, multiple oral frenula, teeth anomalies, atrioventricular block	2	1	Johan den Dunnen
00326017	Pat12	PubMed: D'Asdia 2013	fetus	-	yes	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, partial atrioventricular canal	1	1	Johan den Dunnen
00326018	Pat13	PubMed: D'Asdia 2013	-	M	no	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, hypoplastic nails, multiple oral frenula, hypodontia and enamel hypoplasia, patent foramen ovale, hypospadias	2	1	Johan den Dunnen
00326019	Pat14	PubMed: D'Asdia 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Slovakia (Slovak Republic)	-	-	-	-	-	EVC	postaxial polydactyly, short limbs, dysplastic nails, gingival anomalies, complete atrioventricular canal	1	1	Johan den Dunnen
00326020	Pat15	PubMed: D'Asdia 2013	-	M	yes	Turkey	-	-	-	-	-	EVC	postaxial polydactyly, uncle with polydactyly hypoplastic nails, multiple oral frenula, neonatal teeth, hypoplastic left heart syndrome, aortic coarctation	1	1	Johan den Dunnen
00326021	Pat16	PubMed: D'Asdia 2013	-	F	no	Yugoslavia	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, hypoplastic nails, multiple oral frenula, irregular alveolar ridge, premature eruption of teeth, partial atrioventicular canal, aortic coarctation,	2	1	Johan den Dunnen
00326022	Pat17	PubMed: D'Asdia 2013	-	F	no	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, hypoplastic nails, enamel hypoplasia, hypodontia, abnormally shaped teeth, delayed eruption of teeth, common atrium, tricuspid and mitral valve anomalies, patent ductus arteriosus, genu valgum	2	1	Johan den Dunnen
00326023	Pat18	PubMed: D'Asdia 2013	fetus	M	no	United Kingdom (Great Britain)	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short limbs, hypoplastic nails, partial atrioventricular canal	2	1	Johan den Dunnen
00326024	Pat19	PubMed: D'Asdia 2013	-	M	yes	Algeria	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia	1	1	Johan den Dunnen
00326025	Pat20	PubMed: D'Asdia 2013	-	-	no	Ireland	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326041	family	PubMed: Umm-e-Kalsoom 2009	4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	EVC	see paper; ...	1	1	Johan den Dunnen
00326043	Fam2PatV1	PubMed: Ali 2010	4-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	Sudan	-	-	-	-	-	EVC	common atrium with dilated coronary sinus; short/thin upper lip, short/multiple frenula, irregular alveolar ridge, natal teeth, short broad nose, long philtrum; postaxial polydactyly hands, limb shortening mesomelic, narrow chest, nail hypoplasia; short long bones, short ribs with narrow chest, small iliac bones with downward spike	1	2	Johan den Dunnen
00326047	Pat29	PubMed: Valencia 2009	-	-	yes	Turkey	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326048	Pat30	PubMed: Valencia 2009	-	-	yes	Turkey	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326049	Pat8	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326050	Pat21	PubMed: Valencia 2009	-	-	no	Mexico	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326051	Pat12	PubMed: Valencia 2009	-	-	yes	Egypt	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326052	Pat18	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326053	Pat5	PubMed: Valencia 2009	-	-	yes	Spain	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326054	Pat7	PubMed: Valencia 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Spain	-	-	-	-	-	EVC	-	3	1	Johan den Dunnen
00326055	Pat38	PubMed: Valencia 2009	-	-	yes	Jordan	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326056	Pat39	PubMed: Valencia 2009	-	-	yes	Jordan	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326057	Pat3	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326058	Pat22	PubMed: Valencia 2009	-	-	yes	Qatar	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326059	Pat13	PubMed: Valencia 2009	-	-	yes	Egypt	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326060	Pat37	PubMed: Valencia 2009	-	-	yes	Jordan	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326061	Pat31	PubMed: Valencia 2009	-	-	yes	Israel	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326062	Pat36	PubMed: Valencia 2009	-	-	no	Netherlands	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326063	Pat34	PubMed: Valencia 2009	-	-	yes	Turkey	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326064	Pat20	PubMed: Valencia 2009	-	-	yes	Egypt	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00331428	16DG0331	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Micromelia, Narrow chest	1	1	LOVD
00388421	R04-476A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388422	R06-546	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388423	R95-337	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388424	R11-131A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	1	1	LOVD
00414339	WHP6	PubMed: Sun 2018	-	F	-	China	-	-	-	-	-	?	-	1	1	LOVD
00416254	Pat12	PubMed: Monroe 2016	-	M	-	Netherlands	-	-	-	-	-	?	diminished length growth (−5.5 SD) from birth, stationary stiff joints; general severe delayed development; facial dysmorphic features, blepharophimosis, small mouth, poor mimicry; brachydactyly, generalized stiffness, contractures	1	1	Johan den Dunnen

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Global Variome shared LOVD

EVC (Ellis van Creveld syndrome)