All individuals with variants in gene EVC2

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.

99 entries on 1 page. Showing entries 1 - 99.

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
00017613	-	PubMed: Dusi 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs	F	yes	Italy	-	-	-	-	-	NBIA1	birth weight: 3,850 g; No history of perinatal complications;Normal early developmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ¼ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs	2	1	Marianne Vos (LOVD-team)
00058524	-	-	-	M	?	Brazil	-	-	-	-	-	EVC	-	1	1	Karina Silveira
00225672	23169490-PatMKS_F2, -Fam10DG1721	PubMed: Shaheen 2013, PubMed: Alazami 2015, Journal: Alazami 2015	-	-	yes	Saudi Arabia	-	-	-	-	-	?	see paper; …, Meckel-Gruber syndrome	1	1	Johan den Dunnen
00293631	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	120	Mohammed Faruq
00293633	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	11	Mohammed Faruq
00293634	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00293635	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304998	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00307126	Pat1	PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents from same town not known to be related	F	?	Turkey	-	-	-	-	-	EVC	see paper; ..., height 124.5 cm; short limbs, polydactyly hands/feet, no syndactyly, brachydactyly; nail dysplasia; genu valgum; no cardiac malformation; hypodontia/dysplastic teeth	1	1	Johan den Dunnen
00325865	Fam1	PubMed: Valencia 2015	5-generation family, 3 affected (2F, M)	F;M	yes	Lebanon	-	-	-	-	-	EVC	see paper; ...	1	3	Johan den Dunnen
00325866	Fam2	PubMed: Valencia 2015	3-generation family, 2 affected (2M)	M	yes	Lebanon	-	-	-	-	-	EVC	see paper; ...	1	2	Johan den Dunnen
00325883	Pat7-11	PubMed: Sund 2009	-	M	-	United States	white	-	-	-	-	EVC	common atrium/partial AV canal, large patent ductus arteriosis, short stature, polydactyly	1	1	Johan den Dunnen
00325884	Pat8-3	PubMed: Sund 2009	-	M	-	United States	white	-	-	-	-	EVC	common atrium/partial AV canal, coarctation of the aorta, short stature, polydactyly	2	1	Johan den Dunnen
00325885	Pat11-3	PubMed: Sund 2009	-	F	-	United States	white	-	-	-	-	EVC	common atrium/partial AV canal, short stature, polydactyly	2	1	Johan den Dunnen
00325910	FamPatB100	PubMed: Galdzicka 2002	2-generation family, 2 affected brothers	M	-	United States	Jewish-Ashkenazi	-	-	-	-	EVC	-	2	2	Johan den Dunnen
00325911	-	PubMed: Ruiz‐Perez 2003	-	-	-	-	gypsy	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325912	-	PubMed: Ruiz‐Perez 2003	-	F;M	-	Brazil	-	-	-	-	-	EVC	see paper; ..., atrial septal defect, short limb dysplasia with genu valgum, polydactyly, multiple oral frenulae, oligodontia, dysplastic teeth	1	1	Johan den Dunnen
00325913	-	PubMed: Ruiz‐Perez 2003	patient, second-cousin parents	F	yes	-	-	-	-	-	-	EVC	short limb dysplasia, short ribs, postaxial polydactyly hands, dysplastic nails, dysplastic teeth, hyperplasia alveolar ridges, multiple oral frenulae; patent arterial duct, no other cardiac abnormality	1	1	Johan den Dunnen
00325914	-	PubMed: Ruiz‐Perez 2003	stillborn child	-	-	-	-	-	-	-	-	EVC	stillborn child, ventricular septal defect, short limbs with postaxial polydactyly hands; radiographs short limbs, classical pelvic configuration	1	1	Johan den Dunnen
00325915	-	PubMed: Ruiz‐Perez 2003	family, 2 affected sisters	F	-	Ecuador	-	-	-	-	-	EVC	disproportionate short stature, acromesomelic limb shortening, short ribs, postaxial polydactyly hands, nail dysplasia, fusion hamate and capitate; oligodontia, dysplastic teeth, multiple oral frenulae; genu valgum (1/2)	1	2	Johan den Dunnen
00325916	-	PubMed: Ruiz‐Perez 2003	family, 2 affected	-	-	-	-	-	-	-	-	EVC	ostium primum atrial septal defects, short limb dysplasia, postaxial polydactyly hands, nail dysplasia, tooth dysplasia	1	2	Johan den Dunnen
00325917	45274	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325918	38064	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325919	47440	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325920	31815	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325921	9239	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325922	9293	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325923	35113a	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325924	35142	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325925	53770	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325926	12752	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325927	34373	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00325928	31085	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325929	23757	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325930	31768	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325931	31685	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325932	48518	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325933	36151	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325934	35582	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325935	12315	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325936	20596	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325937	51235	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325938	10711	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325939	34713	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325940	36643	PubMed: Tompson 2007	-	-	-	Spain	gypsy	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325941	35537	PubMed: Tompson 2007	-	-	-	Spain	gypsy	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00325942	-	PubMed: Ye 2006	5-generation famiy, 11 affected (6F, 5M)	F	-	China	Han Chinese	-	-	-	-	WAD	see paper; ...	1	11	Johan den Dunnen
00326026	Pat21	PubMed: D'Asdia 2013	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	WAD	short stature, postaxial polydactyly, nail hypoplasia, teeth abnormalities	1	1	Johan den Dunnen
00326027	Pat22	PubMed: D'Asdia 2013	-	M	yes	Pakistan	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, narrow palate	1	1	Johan den Dunnen
00326028	Pat23	PubMed: D'Asdia 2013	-	F	yes	Afghanistan	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short limbs, hypoplastic nails, multiple oral frenula, patent ductus arteriosus, aortic valve stenosis, congenital thoracolumbar scoliosis	1	1	Johan den Dunnen
00326029	Pat24	PubMed: D'Asdia 2013	fetus	M	no	Morocco	-	-	-	-	-	EVC	postaxial polydactyly, short limbs, short ribs, partial atrioventricular canal, hypoplastic lungs, club feet	2	1	Johan den Dunnen
00326030	Pat25	PubMed: D'Asdia 2013	-	F	no	Spain	-	-	-	-	-	EVC	bilateral postaxial hands and feet polydactyly, nail hypoplasia, thin dry hair, abnormally shaped teeth, multiple oral frenula, ventricular septal defect, aortic coarctation,	1	1	Johan den Dunnen
00326031	Pat26	PubMed: D'Asdia 2013	fetus	F	no	United Kingdom (Great Britain)	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, anteriorly placed anus	3	1	Johan den Dunnen
00326032	Pat27	PubMed: D'Asdia 2013	2-generation family, 1 affected, unaffected non-carrier parents	M	no	Italy	-	-	-	-	-	EVC	normal stature, postaxial polydactyly, hypoplastic nails, hypodontia and enamel hypoplasia, abnormally shaped teeth	1	1	Johan den Dunnen
00326033	Pat28	PubMed: D'Asdia 2013	fetus	M	no	United Kingdom (Great Britain)	-	-	-	-	-	EVC	postaxial polydactyly, hypoplastic nails, atrial septal defect, patent ductus arteriosus, multiple oral frenula	2	1	Johan den Dunnen
00326034	Pat29	PubMed: D'Asdia 2013	-	F	yes	Spain	-	-	-	-	-	EVC	short stature, postaxial polydactyly, dysplastic or absent nails, sparse hair, multiple oral frenula, Shone's complex,ventricular septal defect, bilateral deafness	1	1	Johan den Dunnen
00326042	Fam1	PubMed: Ali 2010	3-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United Arab Emirates	Yemini	-	-	-	-	EVC	common atrium with dilated coronary sinus; short/thin upper lip, short/multiple frenula, irregular alveolar ridge, no natal teeth, short broad nose, long philtrum; postaxial polydactyly hands right, limb shortening mesomelic, narrow chest, nail hypoplasia; short long bones, short ribs with narrow chest, small iliac bones with downward spike	1	1	Johan den Dunnen
00326044	Fam3	PubMed: Ali 2010	3-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Egypt	-	-	-	-	-	EVC	heart AV canal defect; 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	1	Johan den Dunnen
00326046	patient	PubMed: Shen 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	China	Han	-	-	-	-	EVC	postaxial polydactyly, no cardiac anomalies, no narrow chest, short stature, distal limb shortening, dysplastic nails, no excess frenula, hypodontia, tooth abnormalities, syndactyly, no hair changes, genu valgum, abnormal clavicles	2	1	Johan den Dunnen
00326065	Pat24	PubMed: Valencia 2009	-	-	yes	Turkey	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326066	Pat15	PubMed: Valencia 2009	-	-	no	Brazil	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326067	Pat2	PubMed: Valencia 2009	-	-	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326068	Pat19	PubMed: Valencia 2009	-	-	yes	Egypt	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326069	Pat23	PubMed: Valencia 2009	-	-	yes	Brazil	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326070	Pat25	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326071	Pat9	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326072	Pat32	PubMed: Valencia 2009	-	-	yes	France	Algeria	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326073	Pat10	PubMed: Valencia 2009	-	-	yes	Egypt	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326074	Pat17	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326075	Pat11	PubMed: Valencia 2009	-	-	yes	Egypt	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326076	Pat4	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326077	Pat1	PubMed: Valencia 2009	-	-	no	United States	-	-	-	-	-	EVC	-	2	1	Johan den Dunnen
00326078	Pat28	PubMed: Valencia 2009	-	-	yes	Turkey	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326079	Pat6	PubMed: Valencia 2009	-	-	no	Spain	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326080	Pat14	PubMed: Valencia 2009	-	-	yes	Spain	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326081	Pat16	PubMed: Valencia 2009	-	-	yes	Spain	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326082	Pat35	PubMed: Valencia 2009	-	-	yes	Jordan	-	-	-	-	-	EVC	-	1	1	Johan den Dunnen
00326083	Pat33	PubMed: Valencia 2009	4-generation family, 5 affected (3F, 2M)	F;M	no	United Kingdom (Great Britain)	-	-	-	-	-	WAD	-	1	5	Johan den Dunnen
00326084	Pat26	PubMed: Valencia 2009	2-generation family, 1 affected, unaffected non-carrier parents	-	no	Switzerland	-	-	-	-	-	WAD	-	1	1	Johan den Dunnen
00326085	Pat27	PubMed: Valencia 2009	3-generation family, 5 affected (F, 4M)	F;M	no	Italy	-	-	-	-	-	WAD	-	1	5	Johan den Dunnen
00327547	family	PubMed: Beck 2014	2-generation family, 5 affected (2F, 3M)	F;M	yes	Iraq	-	-	-	-	-	retinal disease	see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease	3	5	Johan den Dunnen
00331429	10DG1721	PubMed: Maddirevula 2018	family	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Neonatal death, Potter facies, Sloping forehead, Hypertelorism, Low-set ears, Occipital en No	1	1	LOVD
00359444	-	-	-	-	-	(Brazil)	-	-	-	-	-	EVC	-	1	1	Cynthia Silveira
00388425	R02-082A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388426	R06-193	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	polydactyly	1	1	LOVD
00388427	R08-353A	PubMed: Zhang-2019	-	-	-	-	Latino	-	-	-	-	?	polydactyly	1	1	LOVD
00388428	R09-040A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388429	R09-040D	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388430	R96-138	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388431	R98-219A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	polydactyly	2	1	LOVD
00388459	R10-640A	PubMed: Zhang-2019	Unsolved case: biallelic causative mutations not identify	-	-	-	white	-	-	-	-	?	-	1	1	LOVD
00388460	R02-363A	PubMed: Zhang-2019	Unsolved case: biallelic causative mutations not identify	-	-	-	Unknown	-	-	-	-	?	-	1	1	LOVD
00388466	R97-291	PubMed: Zhang-2019	Unsolved case: biallelic causative mutations not identify	-	-	-	white	-	-	-	-	?	-	1	1	LOVD
00388468	R03-383A	PubMed: Zhang-2019	Unsolved case: biallelic causative mutations not identify	-	-	-	Latino	-	-	-	-	?	-	1	1	LOVD
00434900	L50014	-	2-generations family, 1 affected patient, unaffected heterozygous carrier parents	F	no	Mexico	Mexico	>16y	-	-	-	EVC	HP:0000007 Autosomal recessive inheritance HP:0008921 Neonatal short-limb short stature HP:0008873 Disproportionate short-limb short stature HP:0000668 Hypodontia HP:0002857 Genu valgum HP:0001162 Postaxial hand polydactyly HP:0002164 Nail dysplasia HP:0000968 Ectodermal dysplasia	1	1	Glustein Pozo
00453756	BAV488	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	aortic valve replacement; large ascending aneurysm,CHARGE syndrome	1	1	Johan den Dunnen
00453757	BAV334	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	root aneurysm	1	1	Johan den Dunnen
00453807	BAV483	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	-	1	1	Johan den Dunnen
00459489	TID-10 V1	-	-	M	yes	Pakistan	-	-	-	-	-	EVC	-	1	3	Amatul Raqeeb Jawaid

Legend

How to query

Global Variome shared LOVD

EVC2 (Ellis van Creveld syndrome 2)