All individuals with variants in gene BBS12

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.

147 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	Variants	Panel size	Owner
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	1	1	Global Variome, with Curator vacancy
00034032	-	PubMed: Waters 2015, Journal: Waters 2015	-	-	-	-	-	-	-	-	-	BBS	-	2	1	Johan den Dunnen
00034033	-	PubMed: Waters 2015, Journal: Waters 2015	-	-	-	-	-	-	-	-	-	BBS	-	2	1	Johan den Dunnen
00100116	61274	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	RP, deafness	1	1	James Hejtmancik
00293533	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	14	Mohammed Faruq
00293534	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00299641	FamGC3626Pat2	PubMed: Arno 2017	2-generation family, 1 affeted	M	-	-	-	-	-	-	-	retinal disease	see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90	1	1	Johan den Dunnen
00332219	JB42	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00333356	Pat16	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333358	Pat8	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335086	706Z	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	Bardet Biedl-like syndrome; 16y-diagnosis visual impairment	2	1	LOVD
00335332	Pat96	PubMed: Bravo-Gil 2017	-	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Nereida Bravo Gil
00358967	Case71315	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359027	10001098	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379370	-	PubMed: Harville-2010	-	-	yes	Turkey	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity	1	1	LOVD
00379371	-	PubMed: Harville-2010	-	-	yes	Pakistan	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, hypogonadism, renal anomalies	1	1	LOVD
00379372	-	PubMed: Harville-2010	-	-	yes	Pakistan	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, hypogonadism, renal anomalies	1	1	LOVD
00382487	349	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382488	350	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382803	-	PubMed: Song-2011	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383069	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383100	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383140	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00383151	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, learning disability	1	1	LOVD
00383271	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	2	2	LOVD
00383272	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383273	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	1	LOVD
00383274	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383275	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	Gypsy	-	-	-	-	retinal disease	-	1	5	LOVD
00383276	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	1	2	LOVD
00383277	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	1	LOVD
00383278	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383279	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383280	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383300	-	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
00383301	-	PubMed: Duelund Hjortshoj-2010	-	M	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Hypogenitalism	1	1	LOVD
00383302	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383318	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383319	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383324	-	PubMed: Pereiro-2010	-	M	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity, mental delay, polydactyly (left-foot)	1	1	LOVD
00383325	-	PubMed: Pereiro-2010	-	M	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity, mental delay, polydactyly	1	1	LOVD
00383326	-	PubMed: Pereiro-2010	-	F	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity, mental delay, polydactyly	1	1	LOVD
00383327	-	PubMed: Pereiro-2010	-	F	-	Spain	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383328	-	PubMed: Pereiro-2010	-	M	-	Spain	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383655	4	PubMed: Manara 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383657	6	PubMed: Manara 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383660	9	PubMed: Manara 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383840	-	PubMed: Hariri 2018	-	?	-	-	-	-	-	-	-	retinal disease	BCVA OD-OS: 20/50-20/60	2	1	LOVD
00384605	FC51: II.2	PubMed: Jaffal 2019	-	F	no	Lebanon	-	-	-	-	-	retinal disease	Visual acuity: 20/100–20/1	2	1	LOVD
00384701	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384702	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384703	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384714	-	PubMed: Billingsley-2010	-	F	-	-	Turkish	-	-	-	-	retinal disease	digit anomaly, moderate cognitive impairment	1	1	LOVD
00384716	-	PubMed: Billingsley-2010	-	M	-	-	South African Black	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384717	-	PubMed: Billingsley-2010	-	M	-	-	South African Black	-	-	-	-	retinal disease	weight anomalies, digit anomaly, moderate cognitive impairment	2	1	LOVD
00384718	-	PubMed: Billingsley-2010	-	F	-	-	South African Black	-	-	-	-	retinal disease	weight anomalies, digit anomaly, severe cognitive impairment	1	1	LOVD
00384719	-	PubMed: Billingsley-2010	-	M	-	-	South African Black	-	-	-	-	retinal disease	weight anomalies, digit anomaly, moderate cognitive impairment	1	1	LOVD
00384720	-	PubMed: Billingsley-2010	-	M	-	-	South African Black	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384726	-	PubMed: Billingsley-2010	-	-	-	-	Egyptian	-	-	-	-	retinal disease	phenotypes overlapping with MKKS and ALMS (non-alcoholic, steatohepatitis, gynaecomasty, asthma, cryptorchidism, scoliosis, osteopenia, gum disease and endocrine anomalies)	2	1	LOVD
00384727	-	PubMed: Billingsley-2010	-	-	-	-	Pakistani	-	-	-	-	retinal disease	-	1	1	LOVD
00384728	-	PubMed: Billingsley-2010	-	F	-	-	West African	-	-	-	-	retinal disease	polydactyly of two limbs, congenital heart disease, genitourinary sinus anomalies and distal vaginal stenosis with secondary hydrocolpos and hydronephrosis at birth, digit anomaly, combined BBS/MKKS phenotype	2	1	LOVD
00384732	-	PubMed: Billingsley-2010	-	F	-	-	Canadian Native Indian (Dene)	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384733	-	PubMed: Billingsley-2010	-	-	-	-	Canadian Native Indian (Dene)	-	-	-	-	retinal disease	-	1	1	LOVD
00384734	-	PubMed: Billingsley-2010	-	M	-	-	Canadian Native Indian (Dene)	-	-	-	-	retinal disease	-	1	1	LOVD
00384832	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, hydrometrocolpos	1	1	LOVD
00384833	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, hydrometrocolpos	1	1	LOVD
00384834	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00385156	41	PubMed: Jiman 2020	-	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	HP:0000556 Retinal dystrophy; HP:0010442 Polydactyly; HP:0001249 Intellectual disability; HP:0001513 Obesity; HP:0000750 Delayed speech and language development; HP:0000662 Nyctalopia; HP:0011003 Severe Myopia;	1	1	LOVD
00385181	-	PubMed: Chen-2011	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00385186	-	PubMed: Chen-2011	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00385222	-	PubMed: Chen-2011	-	-	-	-	Tunisian	-	-	-	-	retinal disease	-	2	1	LOVD
00385262	-	PubMed: Schaefer-2011	-	-	-	France	french	-	-	-	-	retinal disease	Polydactyly, kidney features, , hydrometrocolpos with bleeding, urogenital sinus	1	1	LOVD
00385313	-	PubMed: Imhoff-2011	additional mutation	-	-	-	Ghanian	-	-	-	-	retinal disease	-	1	1	LOVD
00385314	-	PubMed: Imhoff-2011	additional mutation	-	yes	-	Dene	-	-	-	-	retinal disease	-	2	1	LOVD
00385315	-	PubMed: Imhoff-2011	novel, No principal mutations.	-	-	-	Grenadian	-	-	-	-	retinal disease	-	1	1	LOVD
00385316	-	PubMed: Imhoff-2011	novel, No principal mutations.	-	-	-	Grenadian	-	-	-	-	retinal disease	-	1	1	LOVD
00385326	-	PubMed: Deveault-2011	-	-	-	-	English/Irish/Scottish	-	-	-	-	retinal disease	-	1	1	LOVD
00385332	-	PubMed: Deveault-2011	novel	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00385362	-	PubMed: Deveault-2011	-	F	yes	-	Pakistani	-	-	-	-	retinal disease	weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Heart anomalyTeeth crowding, Dysmorphic	1	1	LOVD
00385365	-	PubMed: Deveault-2011	novel	-	yes	-	Somalian	-	-	-	-	retinal disease	-	2	1	LOVD
00385374	-	PubMed: Deveault-2011	-	-	-	-	South African Black	-	-	-	-	retinal disease	-	2	1	LOVD
00385375	-	PubMed: Deveault-2011	-	-	-	-	Danish/Dutch/Norwegian	-	-	-	-	retinal disease	-	1	1	LOVD
00385376	-	PubMed: Deveault-2011	-	F	-	-	South African Black	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHydrometrocolpos	2	1	LOVD
00385377	-	PubMed: Deveault-2011	-	M	-	-	El-Salvadorian	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Hearing abn, DiabetesDepression, Emotional lability, Teeth	1	1	LOVD
00385378	-	PubMed: Deveault-2011	-	M	-	-	white	-	-	-	-	retinal disease	distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos	2	1	LOVD
00385379	-	PubMed: Deveault-2011	-	F	-	-	white	-	-	-	-	retinal disease	distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos	2	1	LOVD
00385380	-	PubMed: Deveault-2011	-	F	-	-	white	-	-	-	-	retinal disease	showedbilateraldiffuse cystic renal dysplasia with a relatively well-preserved nephrogenesis and an expanded medulla with dilated dysplastic collecting ducts	1	1	LOVD
00385381	-	PubMed: Deveault-2011	-	M	-	-	French	-	-	-	-	retinal disease	-	1	1	LOVD
00385382	-	PubMed: Deveault-2011	-	F	-	-	French	-	-	-	-	retinal disease	-	2	1	LOVD
00385383	-	PubMed: Deveault-2011	-	F	-	-	French	-	-	-	-	retinal disease	-	1	1	LOVD
00385389	-	PubMed: Dulfer-2010	-	M	-	-	French	-	-	-	-	retinal disease	-	2	1	LOVD
00385390	-	PubMed: Dulfer-2010	-	M	-	-	French	-	-	-	-	retinal disease	-	2	1	LOVD
00385569	AR248(A2843)-05	PubMed: Janssen-2011	-	-	-	-	Northern-Europe	-	-	-	-	retinal disease	retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, COM,SD	1	1	LOVD
00385604	A3227-II1	PubMed: Janssen-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385629	M333	PubMed: Alvarez-Satta-2014	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	1	1	LOVD
00385630	B63	PubMed: Alvarez-Satta-2014	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	2	1	LOVD
00385631	B179	PubMed: Alvarez-Satta-2014	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	2	1	LOVD
00385632	FRPN65a	PubMed: Alvarez-Satta-2014	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	2	1	LOVD
00385633	FRPN15a	PubMed: Alvarez-Satta-2014	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	2	1	LOVD
00385634	GBB4	PubMed: Alvarez-Satta-2014	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	2	1	LOVD

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

Global Variome shared LOVD

BBS12 (Bardet-Biedl syndrome 12)