All individuals with variants in gene BBS10

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.

307 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00024245	-	PubMed: Lim 2014, Journal: Lim 2014	-	-	?	Finland	Finnish	-	-	-	-	IDDM2	Type 2 Diabetis, Obesity, one of the individuals had bilateral hypoacusis or partial hearing loss, a characteristic often associated with BBS. Two of the homozygotes are obese (body mass index [BMI] = 39.2, age = 70; BMI = 37.73, age = 67), and one of them is overweight (BMI = 28.83, age = 69). The lipid levels for one of the individuals (BMI = 37.7) showed that most of her lipid measurements are in the normal range (total cholesterol = 22nd percentile, low-density lipoprotein = 19th percentile, high-density lipoprotein = 14th percentile), but she has elevated levels of triglycerides in the 91st percentile, consistent with the obesity status. None of the three individuals were reported to have cardinal phenotypes associated with BBS such as polydactyly, intellectual disability, cystic kidney disease, or retinal dystrophy.	1	3	Marianne Vos (LOVD-team)
00034031	-	PubMed: Waters 2015, Journal: Waters 2015	-	-	-	-	-	-	-	-	-	BBS	-	2	1	Johan den Dunnen
00034034	-	PubMed: Waters 2015, Journal: Waters 2015	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Johan den Dunnen
00063269	-	-	-	-	-	-	-	-	-	-	-	PKD	-	1	1	Joshi Stephen
00095110	-	-	-	-	?	-	-	-	-	Yes	-	BBS10	-	1	1	Karen Stals
00229590	-	-	-	M	-	-	-	-	-	-	-	?	HP:0000548 (Cone/cone-rod dystrophy)	1	1	IMGAG
00290796	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00295444	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00308476	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308477	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308638	-	PubMed: Holtan 2020	6 homozygous patients	-	-	Norway	-	-	-	-	-	retinal disease	-	1	6	Global Variome, with Curator vacancy
00308957	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00325434	2405	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal systrophy	1	1	Johan den Dunnen
00328048	G001418	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00333810	6	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	2	1	LOVD
00334082	611	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	2	1	LOVD
00334083	612	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00358813	AR246-03	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358816	AR883-04	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	2	1	LOVD
00358818	AR704-0311	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358964	Case72007	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358970	Case71161	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359029	13000378	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359384	519	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00363425	Pat1	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363428	Pat4	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363431	Pat7	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363436	Pat12	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363711	12DG2094	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	2	1	LOVD
00363748	14DG1145	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00373878	OGI-430-914	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373879	OGI-430-915	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373952	P43	PubMed: Pierrottet 2014	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00379369	-	PubMed: Harville-2010	-	-	yes	Turkey	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity, hypogonadism	1	1	LOVD
00379538	IR_SS_0061	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	BBS	HP:0000662 HP:0000613 HP:0001129 HP:0000639 HP:0000551, HP:0001288, HP:0000365, HP:0000007, HP:0001513, HP:0010442	2	1	Jinu Han
00379811	2016090902	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	patient re-examined at the age of 12 years, showing Bardet-Biedl syndrome features: obesity, hypogonadism, and polydactyly.	2	1	LOVD
00380355	-	PubMed: M'hamdi_2014	-	M	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	retinitis pigmentaria	1	1	LOVD
00382215	44	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382216	45	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382350	179	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382486	348	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382602	465	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383074	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383081	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383125	-	PubMed: Laurier-2006	-	F	yes	Lebanon	Muslim Sunni	-	-	-	-	retinal disease	Polydactyly appendage right hand, cognitive impairment	1	1	LOVD
00383126	-	PubMed: Laurier-2006	-	F	yes	Lebanon	Muslim Sunni	-	-	-	-	retinal disease	Polydactyly hands feet, cognitive impairment	1	1	LOVD
00383127	-	PubMed: Laurier-2006	-	F	yes	Lebanon	Muslim Sunni	-	-	-	-	retinal disease	Polydactyly left foot, cognitive impairment	1	1	LOVD
00383128	-	PubMed: Laurier-2006	-	M	yes	Lebanon	Muslim Sunni	-	-	-	-	retinal disease	Polydactyly hands feet, cognitive impairment	1	1	LOVD
00383131	-	PubMed: Laurier-2006	-	M	yes	Lebanon	Muslim Sunni	-	-	-	-	retinal disease	Polydactyly hands feet	2	1	LOVD
00383134	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, learning disability	1	1	LOVD
00383139	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00383155	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, learning disability	1	1	LOVD
00383186	-	PubMed: Gerth-2008	-	F	-	-	-	-	-	-	-	retinal disease	Overweight, Polydactyly, Kidney anomaly, Dev delayed	2	1	LOVD
00383188	-	PubMed: Gerth-2008	-	F	-	-	-	-	-	-	-	retinal disease	Overweight, Polydactyly, Kidney anomaly, Dev delayed	2	1	LOVD
00383189	-	PubMed: Gerth-2008	-	M	-	-	-	-	-	-	-	retinal disease	Overweight, Polydactyly, Kidney anomaly, Dev delayed	2	1	LOVD
00383193	-	PubMed: Gerth-2008	-	M	-	-	-	-	-	-	-	retinal disease	Obese, Clinodactyly, Kidney anomaly	2	1	LOVD
00383200	-	PubMed: Leitch-2008	-	M	-	-	Lebanese	-	-	-	-	retinal disease	retinitis pigmentosa, obesity, polydactyly, mental retardation, renal disease, developmental delaySeizures	1	1	LOVD
00383201	-	PubMed: Leitch-2008	-	M	-	-	Saudi Arabian	-	-	-	-	retinal disease	retinitis pigmentosa, obesity, polydactyly, mental retardation, developmental delayDF,	1	1	LOVD
00383247	-	PubMed: Muller-2010	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383249	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Lebanese	-	-	-	-	retinal disease	-	2	1	LOVD
00383250	-	PubMed: Muller-2010, {PMID:Stoetzel 2006; 17160889}, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383251	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	4	1	LOVD
00383252	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Newfoundland	-	-	-	-	retinal disease	-	2	1	LOVD
00383253	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383254	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Lebanese	-	-	-	-	retinal disease	-	2	1	LOVD
00383255	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383256	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	C Newfoundland	-	-	-	-	retinal disease	-	2	1	LOVD
00383257	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	5	LOVD
00383258	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383259	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383260	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	2	LOVD
00383261	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383262	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383263	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Newfoundland	-	-	-	-	retinal disease	-	2	4	LOVD
00383264	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	2	1	LOVD
00383265	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Portugese	-	-	-	-	retinal disease	-	2	1	LOVD
00383266	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	2	1	LOVD
00383267	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Lebanese	-	-	-	-	retinal disease	-	2	10	LOVD
00383268	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383269	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383270	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Portugese	-	-	-	-	retinal disease	-	2	1	LOVD
00383284	-	PubMed: Duelund Hjortshoj-2010	-	F	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly	1	1	LOVD
00383285	-	PubMed: Duelund Hjortshoj-2010	-	F	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies	1	1	LOVD
00383288	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383290	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383291	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383295	-	PubMed: Duelund Hjortshoj-2010	-	M	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies; Hypogenitalism	1	1	LOVD
00383297	-	PubMed: Duelund Hjortshoj-2010	-	M	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; Hypogenitalism	2	1	LOVD
00383316	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383317	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383653	2	PubMed: Manara 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383656	5	PubMed: Manara 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383658	7	PubMed: Manara 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383659	8	PubMed: Manara 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383661	10	PubMed: Manara 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384639	2	PubMed: Atmis 2019	-	F	-	Turkey	-	-	-	-	-	retinal disease	polycystic kidney, polydactyly, brachydactyly, retinitis pigmentosa, obesity	1	1	LOVD
00384640	3	PubMed: Atmis 2019	-	F	-	Turkey	-	-	-	-	-	retinal disease	polycystic kidney, polydactyly, obesity, retinitis pigmentosa	1	1	LOVD
00384641	4	PubMed: Atmis 2019	-	M	-	Turkey	-	-	-	-	-	retinal disease	polydactyly, polyuria, increased renal echogenicity, retinitis pigmentosa	1	1	LOVD
00384642	5	PubMed: Atmis 2019	-	M	-	Turkey	-	-	-	-	-	retinal disease	polydactyly, polyuria, increased renal echogenicity, retinitis pigmentosa	1	1	LOVD
00384643	6	PubMed: Atmis 2019	-	F	-	Turkey	-	-	-	-	-	retinal disease	Polycystic kidney, Hematocolpos, polyuria, retinitis pigmentosa, brachydactyly	1	1	LOVD

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Global Variome shared LOVD

BBS10 (Bardet-Biedl syndrome 10)