All individuals with variants in gene BBS1

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.

470 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00000029	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000070	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00001787	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00001788	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00081102	-	Haer-Wigman 2016	-	?	no	-	-	-	-	-	-	CORD	-	1	1	Lonneke Haer-Wigman
00081418	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	1	1	Chris Kay
00081419	-	Kay, submitted EJHG	-	-	-	Peru	-	-	-	-	-	HD	-	1	1	Chris Kay
00088150	-	-	4-generation family, 1 affected	-	-	Spain	-	-	-	-	-	BBS	-	1	1	Global Variome, with Curator vacancy
00144157	-	PubMed: Katagiri 2014	index patient	M	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00155382	MOL0391	PubMed: Sharon 2019	family	M	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	3	Dror Sharon
00155383	MOL0745	PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019	-	M	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	4	Dror Sharon
00155384	-	Sharon, submitted	-	M	yes	Israel	Morocco;Jewish	-	-	-	-	BBS	-	1	1	Dror Sharon
00207813	30484961-Fam	PubMed: Tavares 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Canada	-	-	-	-	-	BBS	best corrected visual acuity right, left eye (14y): 20/400, 20/600; anterior segment: normal; retinal exam (15y): macular atrophy, vessel attenuation, bone spicules; electroretinogram amplitude (1y): severe rod-cone dystrophy; neurological findings (13y): absent seizures, autism, normal brain magnetic resonance imaging, head circumference: 57 cm; kidney (age 13y): normal structure and function; liver (age 13y): fatty infiltration, normal transaminases; lipidsa (age 13y) cholesterol 6.4 mmol/l (elevated); triglyceride: 8.63 mmol/L (elevated); heart: situs solitus, levocardia; spleen: mild splenomegaly; digits: postaxial polydactyly in 3 limbs; weight: BMI 38.9; menarche: 13y; development: delayed; other: recurrent ear infections, strabism	2	1	Johan den Dunnen
00233218	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	7	Yoshito Koyanagi
00233219	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	5	Yoshito Koyanagi
00233220	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233221	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233222	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233223	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233224	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233225	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233226	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233227	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233228	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233229	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233230	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233231	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233232	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233233	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	20	Yoshito Koyanagi
00269434	-	-	-	F	-	Korea	-	-	-	-	-	BBS1	severe obesity, polydactylyl, amenorrhea	2	1	Jinu Han
00290481	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290482	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00308475	-	PubMed: Holtan 2020	2 patients with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308637	-	PubMed: Holtan 2020	4 homozygous patients	-	-	Norway	-	-	-	-	-	retinal disease	-	1	4	Global Variome, with Curator vacancy
00308953	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308954	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308955	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308956	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00327395	M59 II-1	Doucette 2021, submitted	affected male of a 3 sibling family, 2 affected brothers, 1 unaffected sister, parents both unaffected indicating likely recessive inheritance, or X-linked given the sex difference	M	no	Canada	-	-	-	-	-	BBS1	-	2	2	Lance P Doucette
00327398	M59 II-2	Doucette 2021, submitted	affected sibling in a 3 generation family, two affected brothers, one unaffected sister, parents are unaffected indicating either X-linked or autosomal recessive modes of inheritance	M	no	Canada	-	-	-	Yes	-	BBS1	Fundus/History: Mild pigment mottling in macular Ocular Coherence Tomography: Parafoveal loss of the ellipsoid zone Electroretinogram: Rod-cone dystrophy; cone flicker reduced ; 10 Hz dim flicker not recordable	2	1	Lance P Doucette
00327930	B240051	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327941	B240073	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327963	B240272	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328072	G004718	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328083	G005000	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328189	G007690	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328217	G007741	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328483	15002227	PubMed: Taylor 2017	family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	cone-rod dystrophy (HP:0000510)	1	1	LOVD
00328505	14002664	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556), polydactyly (HP:0010442), obesity (HP:0001513)	1	1	LOVD
00331734	RP-2228	PubMed: Sanchez-Navarro 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	retinitis pigmentosa, intellectual disability, overweight since infancy, brachydactyly, chronic renal failure, renal transplant	2	1	LOVD
00332193	JB274	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332200	JB307	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332210	JB284	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00333396	RD6–01	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333807	3	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333808	4	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333809	5	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333891	258	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiii	1	1	LOVD
00333892	259	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiii	1	2	LOVD
00333920	343	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1b	1	1	LOVD
00334069	598	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	2	1	LOVD
00334070	599	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	2	2	LOVD
00334071	600	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334072	601	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334073	602	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334074	603	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334075	604	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334076	605	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334077	606	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334078	607	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334079	608	PubMed: Stone 2017	family, 4 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	4	LOVD
00334080	609	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00334081	610	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	2	1	LOVD
00335083	1845	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	28y-diagnosis visual impairment	2	1	LOVD
00335084	8355	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	Bardet Biedl-like syndrome; 10y-diagnosis visual impairment	2	1	LOVD
00335085	9834	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	Bardet Biedl syndrome; 11y-diagnosis visual impairment	2	1	LOVD
00358719	-	PubMed: Carrigan 2016	-	-	-	Ireland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358810	AR380-03	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	2	1	LOVD
00358811	AR888-0311	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	2	1	LOVD
00358812	AR240-03	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	2	1	LOVD
00358813	AR246-03	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	2	1	LOVD
00358861	Fam19PatIV6	PubMed: Suzuki 2016	4-generstion family, 4 affected (F, 3M)	M	yes	Oman	-	-	-	-	-	JBTS	severe intellectual disability; severe developmental delay; hypotonia, neonatal dysregulated breathing; retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; polydactyly	1	4	LOVD
00358871	Fam19Pat2	PubMed: Suzuki 2016	sibling	-	yes	Oman	-	-	-	-	-	JBTS	moderate intellectual disability; severe developmental delay; hypotonia, neonatal dysregulated breathing; retina problems; coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly	1	1	LOVD
00358947	Case71472	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358968	Case29303	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359024	12003699	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359025	13013491	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359026	13000497	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359369	95	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00359372	488	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00362059	FamAPatII2	PubMed: Fadaie 2022	2-generation family, 1 affected, unaffected heterozygous carrier mother/sister	M	no	Netherlands	-	-	-	-	-	RP	cataract and nystagmus	2	1	Zeinab Fadaie
00362060	FamBPatII1	PubMed: Fadaie 2022	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Netherlands	-	-	-	-	-	RP	-	2	1	Zeinab Fadaie
00362061	FamCPatII1	PubMed: Fadaie 2022	-	M	no	Ireland	-	-	-	-	-	RP	-	2	1	Zeinab Fadaie
00362062	FamDPatII1	PubMed: Fadaie 2022	2-generation family, 1 affected, unaffected heterozygous carrier mother	F	no	England	-	-	-	-	-	RP	-	2	1	Zeinab Fadaie
00363426	Pat2	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363427	Pat3	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363429	Pat5	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373367	-	PubMed: Van Huet 2015	-	-	-	Netherlands	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373822	FamRP368PatIII8	PubMed: Méndez-Vidal 2014	4-generation family, 5 affected (4F, M), 4 RP/1 BBS	F	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	5	LOVD
00373824	FamRP368PatIV2	PubMed: Méndez-Vidal 2014	-	F	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen

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Global Variome shared LOVD

BBS1 (Bardet-Biedl syndrome 1)