Disease #04224 (STL (Stickler syndrome (STL)))

Official abbreviation	STL
Name	Stickler syndrome (STL)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	96
Phenotype entries for this disease	93
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-03-13 12:21:54 +01:00 (CET)
Date last edited	N/A

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'

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.

96 entries on 1 page. Showing entries 1 - 96.

Legend

How to query

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
00155750	-	-	-	M	no	United Kingdom (Great Britain)	White	22y	-	-	-	STL	HP:0004327 Abnormality of the vitreous humor HP:0000545 Myopia HP:0000110 Renal dysplasia	BMP4	BMP4	1	5	Thomas Nixon
00165221	-	-	-	M	no	United Kingdom (Great Britain)	White	62y	-	-	-	STL	HP:0000541 Retinal detachment HP:0000545 Myopia HP:0000407 Sensorineural hearing impairment HP:0011800 Midface retrusion HP:0000278 Retrognathia	BMP4	BMP4	1	1	Thomas Nixon
00165222	-	-	-	F	no	United Kingdom (Great Britain)	-	61y	-	-	-	STL	HP:0000541 Retinal detachment HP:0000545 Myopia HP:0000407 Sensorineural hearing impairment HP:0000278 Retrognathia	BMP4	BMP4	1	1	Thomas Nixon
00165224	-	-	-	F	no	United Kingdom (Great Britain)	-	59y	-	-	-	STL	HP:0000541 Retinal detachment HP:0000545 Myopia HP:0000407 Sensorineural hearing impairment HP:0011800 Midface retrusion HP:0000278 Retrognathia	BMP4	BMP4	1	1	Thomas Nixon
00165225	-	-	-	M	no	United Kingdom (Great Britain)	White	21y	-	-	-	STL	HP:0004327 Abnormality of the vitreous humor HP:0000545 Myopia	BMP4	BMP4	1	1	Thomas Nixon
00248495	-	-	5-generation family, 8 affecteds	-	-	-	-	-	-	-	-	STL	-	COL9A3	COL9A3	1	8	LOVD
00281846	-	PubMed: Richards 2013	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281847	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281849	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281850	-	PubMed: Poulson 2004, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281852	-	PubMed: Richards 2013	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281857	-	PubMed: Poulson 2004, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281860	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281866	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281870	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281874	-	PubMed: Richards 2012	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281876	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281877	-	PubMed: Richards 2010	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281879	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281884	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281887	-	PubMed: Richards 2013	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281892	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281894	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281895	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281896	-	PubMed: Robin 1993, PubMed: Richards 1996, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281897	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281898	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281900	-	PubMed: Richards 2010	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281901	-	PubMed: Richards 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281902	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281903	-	PubMed: Martin 1999	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281904	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281905	-	PubMed: Richards 2013	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00281907	-	PubMed: Richards 2013	-	-	-	-	-	-	-	-	-	STL	-	COL11A1	COL11A1	1	1	Global Variome, with Curator vacancy
00282191	-	PubMed: Alzahrani 2015	-	-	-	-	-	-	-	-	-	STL	-	LOXL3	LOXL3	1	1	Global Variome, with Curator vacancy
00283192	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283195	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283196	-	PubMed: Robin 1993, PubMed: Brunner 1994, PubMed: Vikkula 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283198	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283200	-	PubMed: Robin 1993, PubMed: Vuoristo 2004, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283203	-	PubMed: Iwasa 2015	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283204	-	PubMed: van Beelen 2012	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283207	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00283215	-	-	-	-	-	-	-	-	-	-	-	STL	-	COL11A2	COL11A2	1	1	Global Variome, with Curator vacancy
00299638	-	-	-	M	no	Russia	-	03y	-	-	-	STL	-	-	COL9A3	2	1	Peter Sparber
00311014	-	-	-	F	?	Italy	-	-	-	-	-	STL	-	-	COL11A1	2	1	Lucia Micale
00311016	-	-	-	-	-	(Italy)	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00311018	-	-	-	M	-	(Italy)	-	-	-	-	-	STL	-	-	COL11A2	1	1	Lucia Micale
00311020	-	-	-	F	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00311022	-	-	-	F	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00363190	Family 1	PubMed: Rad 2022	2-generation family, 1 affected, unaffected heterozygous parents	F	yes	Iran	-	-	-	-	-	STL	-	-	COL9A3	1	1	Barbara Vona
00363191	Family 2	PubMed: Rad 2022	2-generation family, 2 affected brothers, unaffected heterozygous parents	M	yes	Iran	-	-	-	-	-	STL	-	-	COL9A3	1	2	Barbara Vona
00363192	Family 3	PubMed: Rad 2022	2-generation family, affected brother/sister, unaffected heterozygous parents	F;M	yes	Iran	-	-	-	-	-	STL	-	-	COL9A3	1	2	Barbara Vona
00379743	IR_GH_0085	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	STL	HP:0030515, HP:0000639, HP:0000365, HP:0001263, HP:0000006, HP:0011003, HP:0000175, HP:0003196, HP:0004327, HP:0000519	-	COL11A1	1	1	Jinu Han
00417014	-	PubMed: Micale 2020	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417015	-	PubMed: Micale 2020	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417017	-	PubMed: Micale 2020	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417018	-	PubMed: Micale 2020	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417023	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417025	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417026	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00417037	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL11A1	1	1	Lucia Micale
00417042	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00417057	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00417069	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00417079	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00417098	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00417148	-	-	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Lucia Micale
00431788	P-0148	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL12A1, COL2A1	3	1	Maria Pia Leone
00431790	P-0150	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Maria Pia Leone
00431791	P-0151	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL2A1	1	1	Maria Pia Leone
00431821	P-0182	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	STL	-	-	COL5A1	1	1	Maria Pia Leone
00444096	-	-	-	-	-	Japan	-	-	-	-	-	STL	-	COL2A1	COL2A1	1	1	Kosei Hasegawa
00444180	FamA	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444181	FamB	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444182	FamC	PubMed: Choi 2021	family, 2 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	2	Johan den Dunnen
00444183	FamD	PubMed: Choi 2021	family, 3 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	3	Johan den Dunnen
00444184	FamE	PubMed: Choi 2021	family, 2 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	2	Johan den Dunnen
00444185	FamF	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444186	FamG	PubMed: Choi 2021	family, 2 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL11A1	COL11A1	1	2	Johan den Dunnen
00444187	FamH	PubMed: Choi 2021	family, 2 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL11A1	COL11A1	1	2	Johan den Dunnen
00444188	FamI;Pat12	PubMed: Choi 2021, PubMed: Moon 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444189	FamJ	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444190	FamK;Pat11	PubMed: Choi 2021, PubMed: Moon 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444191	FamL	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444192	FamM	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444193	FamN	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444194	FamO	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444195	FamP	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444196	FamQ	PubMed: Choi 2021	family, 5 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	5	Johan den Dunnen
00444197	FamR	PubMed: Choi 2021	family, 4 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	4	Johan den Dunnen
00444198	FamS	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL11A1	COL11A1	1	1	Johan den Dunnen
00444199	FamT	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444200	FamU	PubMed: Choi 2021	family, 2 patients	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL11A1	COL11A1	1	2	Johan den Dunnen
00444201	FamV	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen
00444202	FamW	PubMed: Choi 2021	family, 1 patient	-	-	Korea	-	-	-	-	-	STL	see paper; ...	COL2A1	COL2A1	1	1	Johan den Dunnen

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Global Variome shared LOVD

CANT1 (calcium activated nucleotidase 1)