Disease #00689 (SEDC (dysplasia, spondyloepiphyseal, congenita (SEDC)), OMIM:183900)

Official abbreviation	SEDC
Name	dysplasia, spondyloepiphyseal, congenita (SEDC)
OMIM ID	183900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	151
Phenotype entries for this disease	139
Associated with 1 gene	COL2A1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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'

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

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00024278	-	-	2-generation family, 4-affecteds (3F, M)	-	-	United States	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	4	Johan den Dunnen
00024300	-	-	-	-	-	United States	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024301	-	-	affected father and daugther	-	-	Germany	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Johan den Dunnen
00024303	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024315	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024316	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024321	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024324	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024325	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024326	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024378	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024379	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024395	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024401	-	-	affected mother and 2 sons	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	3	Johan den Dunnen
00024402	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M	COL2A1	COL2A1	1	1	Johan den Dunnen
00024404	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024405	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024406	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024407	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024408	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024409	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M	COL2A1	COL2A1	1	1	Johan den Dunnen
00024410	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024411	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M like	COL2A1	COL2A1	1	3	Johan den Dunnen
00024412	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M like	COL2A1	COL2A1	1	5	Johan den Dunnen
00024423	-	-	-	-	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024449	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024450	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024451	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024452	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024507	-	-	-	-	?	(United Kingdom (Great Britain))	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024509	-	-	-	-	?	(United Kingdom (Great Britain))	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024534	-	-	-	M	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024539	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024540	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024541	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024543	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024544	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024554	-	-	-	M	-	-	-	-	-	-	-	SEDC	-	COL2A1	-	-	1	Isabelle Touitou
00024556	-	-	-	M	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024559	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	2	1	Mouna Barat-Houari
00024560	-	-	-	M	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024561	-	-	-	F	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024564	-	-	-	M	-	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024565	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024695	-	-	-	-	?	(United Kingdom (Great Britain))	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024708	-	PubMed: Hoornaert 2006	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024709	-	PubMed: Hoornaert 2006	-	M	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024710	-	PubMed: Hoornaert 2006	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00024760	-	-	-	F	yes	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024761	-	-	Father of F2:V-1	M	yes	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024762	-	-	-	M	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00024763	-	-	-	M	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00024764	-	-	-	M	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00024765	-	-	-	M	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024766	-	-	-	F	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024767	-	-	-	F	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024768	-	-	-	M	no	China	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024774	-	-	-	?	no	(United Kingdom (Great Britain))	-	0d	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024785	-	-	-	M	?	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024796	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	-	-	2	Isabelle Touitou
00024797	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	-	-	2	Isabelle Touitou
00024799	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024804	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024807	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024809	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024829	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024837	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024839	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024840	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024844	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024846	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024852	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024853	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024858	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024863	-	PubMed: Barat-Houari	-	F	?	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024865	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024866	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00024870	-	-	-	F	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024873	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024881	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024883	-	-	-	M	-	(France)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00024906	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00024907	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M	COL2A1	COL2A1	1	1	Johan den Dunnen
00024909	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M	COL2A1	COL2A1	1	1	Johan den Dunnen
00024910	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M	COL2A1	COL2A1	1	1	Johan den Dunnen
00024911	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-M	COL2A1	COL2A1	1	1	Johan den Dunnen
00024913	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024914	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024915	-	-	-	-	-	-	-	-	-	-	-	SEDC	SEDC-S	COL2A1	COL2A1	1	1	Johan den Dunnen
00038422	-	PubMed: Li 2014	-	F	?	Japan	Japan	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00038425	-	PubMed: Mark 2011	-	M	?	(United States)	-	-	-	-	-	SEDC	18WG	COL2A1	COL2A1	1	3	Isabelle Touitou
00038435	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00038441	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00038442	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00038443	-	PubMed: Nishimura 2005	-	M	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00038444	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	3	Isabelle Touitou
00038445	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	2	Isabelle Touitou
00038454	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00038455	-	PubMed: Nishimura 2005	-	F	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou
00038456	-	PubMed: Nishimura 2005	-	M	?	-	-	-	-	-	-	SEDC	-	COL2A1	COL2A1	1	1	Isabelle Touitou

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Global Variome shared LOVD

RBBP8 (retinoblastoma binding protein 8)