Disease #00603 (EVC (Ellis-van Creveld syndrome (EVC)), OMIM:225500)

Official abbreviation	EVC
Name	Ellis-van Creveld syndrome (EVC)
OMIM ID	225500
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	157
Phenotype entries for this disease	149
Associated with 2 genes	EVC, EVC2
Associated tissues	-
Disease features	-
Remarks	-

Individuals

Legend

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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.

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157 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00058524	-	-	-	M	?	Brazil	-	-	-	-	-	EVC	-	EVC, EVC2	EVC2	1	1	Karina Silveira
00058525	-	-	-	?	?	Brazil	-	-	-	-	-	EVC	-	EVC, EVC2	EVC	1	1	Karina Silveira
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	DYNC2H1, DYNC2LI1, EVC, EVC2, WDR35	EVC	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.	DYNC2H1, DYNC2LI1, EVC, EVC2, WDR35	EVC	4	1	Francesca Piceci Sparascio
00307090	Pat16086	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	parents not available	-	-	-	-	-	-	-	-	EVC	-	EVC	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	-	EVC	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	-	EVC	EVC	2	1	Johan den Dunnen
00307093	PatNCL16	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00307094	PatNCL14	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00307095	PatNCL12	PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000	-	-	-	-	-	-	-	-	-	EVC	-	EVC	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	-	EVC	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	EVC	EVC	1	2	Johan den Dunnen
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	EVC2	EVC2	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	EVC	EVC	2	1	Johan den Dunnen
00325865	Fam1	PubMed: Valencia 2015	5-generation family, 3 affected (2F, M)	F;M	yes	Lebanon	-	-	-	-	-	EVC	see paper; ...	EVC2	EVC2	1	3	Johan den Dunnen
00325866	Fam2	PubMed: Valencia 2015	3-generation family, 2 affected (2M)	M	yes	Lebanon	-	-	-	-	-	EVC	see paper; ...	EVC2	EVC2	1	2	Johan den Dunnen
00325881	Pat10-3	PubMed: Sund 2009	-	M	-	United States	white, Hispanic	-	-	-	-	EVC	common atrium/partial AV canal, short stature, polydactyly	EVC	EVC	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	EVC	EVC	1	1	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	EVC2	EVC2	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	EVC2	EVC2	2	1	Johan den Dunnen
00325885	Pat11-3	PubMed: Sund 2009	-	F	-	United States	white	-	-	-	-	EVC	common atrium/partial AV canal, short stature, polydactyly	EVC2	EVC2	2	1	Johan den Dunnen
00325886	Fam1	PubMed: Temtamy 2008	4-generation family, 3 affected sibs (F, 2M)	F;M	yes	Egypt	-	-	-	-	-	EVC	see paper; ...	EVC	EVC, STK32B	1	3	Johan den Dunnen
00325887	-	PubMed: Temtamy 2008	-	-	no	Italy	-	-	-	-	-	EVC	see paper; ...	EVC	EVC, STK32B	2	1	Johan den Dunnen
00325888	52453	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325889	44736	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325890	39596	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325891	33411	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325892	31682	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325893	GC24941	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	2	1	Johan den Dunnen
00325894	19242	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325895	51185	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325896	GC30714	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325897	36148	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325898	34829	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325899	42597	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325900	31765	PubMed: Tompson 2007	-	-	-	Portugal	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325901	31773	PubMed: Tompson 2007	-	-	-	Portugal	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325902	13524	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325903	33566	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	2	1	Johan den Dunnen
00325904	29726	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325905	12705	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	2	1	Johan den Dunnen
00325906	11089	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325907	12539	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325908	GM13310	PubMed: Tompson 2007	-	-	-	United States	Amish	-	-	-	-	EVC	-	EVC	EVC	1	1	Johan den Dunnen
00325909	family	PubMed: Ulucan 2008	5-generation family, 13 affected (3F, 11M)	F;M	yes	Turkey	-	-	-	-	-	EVC	-	EVC	EVC	1	13	Johan den Dunnen
00325910	FamPatB100	PubMed: Galdzicka 2002	2-generation family, 2 affected brothers	M	-	United States	Jewish-Ashkenazi	-	-	-	-	EVC	-	EVC2	EVC2	2	2	Johan den Dunnen
00325911	-	PubMed: Ruiz‐Perez 2003	-	-	-	-	gypsy	-	-	-	-	EVC	-	EVC2	EVC2	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	EVC2	EVC2	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	EVC2	EVC2	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	EVC2	EVC2	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)	EVC2	EVC2	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	EVC2	EVC2	1	2	Johan den Dunnen
00325917	45274	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325918	38064	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	2	1	Johan den Dunnen
00325919	47440	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325920	31815	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	2	1	Johan den Dunnen
00325921	9239	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	2	1	Johan den Dunnen
00325922	9293	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325923	35113a	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325924	35142	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325925	53770	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325926	12752	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	2	1	Johan den Dunnen
00325927	34373	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	2	1	Johan den Dunnen
00325928	31085	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325929	23757	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325930	31768	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325931	31685	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325932	48518	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325933	36151	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325934	35582	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325935	12315	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325936	20596	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325937	51235	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325938	10711	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325939	34713	PubMed: Tompson 2007	-	-	-	-	-	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325940	36643	PubMed: Tompson 2007	-	-	-	Spain	gypsy	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00325941	35537	PubMed: Tompson 2007	-	-	-	Spain	gypsy	-	-	-	-	EVC	-	EVC2	EVC2	1	1	Johan den Dunnen
00326006	Pat1	PubMed: D'Asdia 2013	fetus	-	no	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, common atrium, tricuspid valve anomaly	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	1	1	Johan den Dunnen
00326010	Pat5	PubMed: D'Asdia 2013	-	F	yes	Iraq	-	-	-	-	-	EVC	short stature, postaxial polydactyly, neonatal teeth	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	2	1	Johan den Dunnen
00326015	Pat10	PubMed: D'Asdia 2013	fetus	F	yes	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short limbs, short ribs	EVC, EVC2	EVC	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	EVC, EVC2	EVC	2	1	Johan den Dunnen
00326017	Pat12	PubMed: D'Asdia 2013	fetus	-	yes	Italy	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, partial atrioventricular canal	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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,	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	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	EVC, EVC2	EVC	1	1	Johan den Dunnen
00326025	Pat20	PubMed: D'Asdia 2013	-	-	no	Ireland	-	-	-	-	-	EVC	-	EVC, EVC2	EVC	2	1	Johan den Dunnen
00326027	Pat22	PubMed: D'Asdia 2013	-	M	yes	Pakistan	-	-	-	-	-	EVC	short stature, postaxial polydactyly, short ribs, narrow palate	EVC, EVC2	EVC2	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	EVC, EVC2	EVC2	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	EVC, EVC2	EVC2	2	1	Johan den Dunnen

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Global Variome shared LOVD