All individuals with variants in gene BBS4

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.

141 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
00080932	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	BBS4	Bardet-Biedl syndrome 4 (OMIM:615982)	1	1	Daniel Trujillano
00155389	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	BBS	-	1	1	Dror Sharon
00291295	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00303623	Family_30	PubMed: Makrythanasis 2014	family, 3 affected	-	yes	Iraq	-	-	-	-	-	?	see paper; ..., syndromic intellectual disability/developmental delay	1	3	Johan den Dunnen
00304479	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00308965	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308966	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308967	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00332187	JB319	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	2	1	LOVD
00333419	RD1–12	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358806	32/3	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358807	AR800-03	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358808	AR400-03	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358811	AR888-0311	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358814	AR634-03	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00359028	12009772	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00363430	Pat6	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363683	12DG0398	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	2	1	LOVD
00363736	13DG1032	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00363745	13DG2246	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00379356	-	PubMed: Harville-2010	-	-	yes	United Arab Emirates	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity, hypogonadism	1	1	LOVD
00379357	-	PubMed: Harville-2010	-	-	yes	Turkey	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal anomalies	1	1	LOVD
00380283	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380353	-	PubMed: M'hamdi_2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	Facial palsy,retinitis pigmentaria	1	1	LOVD
00382217	46	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383069	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383083	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383090	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383100	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383111	-	PubMed: Hichri-2005	-	-	-	France	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383112	-	PubMed: Hichri-2005	-	-	-	France	Gypsy	-	-	-	-	retinal disease	-	1	1	LOVD
00383132	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	learning disability, polydactyly	1	1	LOVD
00383194	-	PubMed: Bin-2009	-	F	-	-	Italian	-	-	-	-	retinal disease	obesity, brachydactyly/clinodactyly/ polydactyly, severe cognitive impairment, developmental delay	1	1	LOVD
00383229	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383230	-	PubMed: Muller-2010	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	2	LOVD
00383231	-	PubMed: Muller-2010	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	1	LOVD
00383232	-	PubMed: Muller-2010	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	5	LOVD
00383233	-	PubMed: Muller-2010	-	-	-	-	Algeria	-	-	-	-	retinal disease	-	1	4	LOVD
00383234	-	PubMed: Muller-2010	-	-	-	-	Turkish	-	-	-	-	retinal disease	-	1	1	LOVD
00383313	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383314	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383315	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383340	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383342	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383343	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	7	LOVD
00383344	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	20	LOVD
00383350	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383351	-	PubMed: Hoskins-2003	substitution was detected in both an affected mother and her affected daughter.	-	-	-	-	-	-	-	-	retinal disease	-	1	2	LOVD
00383358	-	PubMed: Fauser-2003	-	-	no	-	European	-	-	-	-	retinal disease	-	1	1	LOVD
00383359	-	PubMed: Fauser-2003	-	-	no	-	European	-	-	-	-	retinal disease	-	1	1	LOVD
00383373	-	PubMed: Eichers-2009, Badano 2003	one unaffected sibling and the unaffected mother of this BBS patient carry one mutant BBS2 allele and two mutant BBS4 alleles.	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383376	-	PubMed: Eichers-2009, Fauser 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383377	-	PubMed: Eichers-2009, Fauser 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383662	11	PubMed: Manara 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384671	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384672	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384673	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384674	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384727	-	PubMed: Billingsley-2010	-	-	-	-	Pakistani	-	-	-	-	retinal disease	-	1	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
00384780	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384781	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384782	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384783	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384799	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, typical facies, bicuspid aortic valve, hypogenitalism	1	1	LOVD
00384800	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, typical facies, hypogenitalism	1	1	LOVD
00384803	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	2 unaffected siblings screened	-	no	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, typical facies, hypogenitalism	1	1	LOVD
00384812	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, renal disease, polydactyly, typical facies, hypogenitalism	1	1	LOVD
00384818	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, learning disabilities, polydactyly, aopy, hypogenitalism	1	1	LOVD
00384819	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, hypogenitalism	1	1	LOVD
00384820	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies, hypogenitalism	2	1	LOVD
00384839	-	PubMed: Abu-Safieh-2012	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, deafness,	1	1	LOVD
00385253	-	PubMed: Redin-2012	-	-	-	Tunisia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385283	-	PubMed: M'hamdi-2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	obesity, retinitis pigmentosa, polydactyly, hypogenitalism, facial palsy	1	1	LOVD
00385301	-	PubMed: Imhoff-2011	additional mutation	-	-	-	Italian	-	-	-	-	retinal disease	-	1	1	LOVD
00385318	-	PubMed: Deveault-2011	No principal mutations.	M	-	-	Jamaican/Trinidadian	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver fx	1	1	LOVD
00385320	-	PubMed: Deveault-2011	-	F	-	-	English	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hyperinsulinemia, Dislipidemia, Acanthosis nigricansLow set ears, Hypotonia, UTIs, Vocal cord cyst, Abnormal teeth	1	1	LOVD
00385332	-	PubMed: Deveault-2011	novel	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00385342	-	PubMed: Deveault-2011	-	F	-	-	Polish	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Liver fx, Dislipidemia, HyperinsulinemiaHyperphagia, Hirschprung disease, Depression	1	1	LOVD
00385343	-	PubMed: Deveault-2011	-	M	-	-	Irish	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHyperphagia, Vocal cord web, Sleep apnea	1	1	LOVD
00385350	-	PubMed: Deveault-2011	-	F	-	-	white	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Scoliosis, Osteopenia, DislipidemiaCholelithiasis	1	1	LOVD
00385375	-	PubMed: Deveault-2011	-	-	-	-	Danish/Dutch/Norwegian	-	-	-	-	retinal disease	-	1	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
00385588	KK44(A2884)-8	PubMed: Janssen-2011	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism,	1	1	LOVD
00385596	AR348(A2848)-03	PubMed: Janssen-2011	-	-	-	-	Northern-Europe	-	-	-	-	retinal disease	Retinitis pigmentosa, postaxial polydactyly, obesity,	1	1	LOVD
00385938	-	PubMed: Fattahi-2014	-	-	yes	-	Fars	-	-	-	-	retinal disease	obesity, rodcone dystrophy, strabismus, Severe to profound learning disability, polydactyly hand, polydactyly feet,speech disorder, Hirschprung-syndrome, poor-coordination	1	1	LOVD
00385946	-	PubMed: Fattahi-2014	-	-	yes	-	Fars	-	-	-	-	retinal disease	obesity, rodcone dystrophy, night blindness, learning disability, polydactyly hand, polydactyly feet, Multiple-renal-cyst, hypogonadisma, Club-foot, behavioral-problem	1	1	LOVD
00386883	121-814	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387477	RP1032	PubMed: Alvarez-Satta-2014, PubMed: Castro Sanchez 2015	2-generation family, 2 affected (brother/sister)	F	-	Saudi Arabia	Arab	-	-	-	-	retinal disease	retinal dystrophy, obesity, polydactyly,	1	2	LOVD
00387545	-	PubMed: Knopp 2015	-	M	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387549	-	PubMed: Knopp 2015	-	M	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387807	M8700050	PubMed: Hu 2019	family, 2 affected individuals, second cousin parents	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, no microcephaly	1	2	Johan den Dunnen
00388494	14017272	PubMed: Ellingsford 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388526	1	PubMed: Hirano 2020	-	M	no	Japan	-	-	-	-	-	retinal disease	rod-cone dystrophy, obesity, polydactyly, mild pyelectasis with polycysts, hepatic fibrosis: mild splenomegaly, BMI: 26.7, Imperforate anus	1	1	LOVD
00388568	OFTALMO.041	PubMed: Dineiro 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	Pretest syndrome	1	1	LOVD
00388789	73	PubMed: Weisschuh 2020	Filing key number: 37, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00388808	92	PubMed: Weisschuh 2020	Filing key number: 45, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00388831	115	PubMed: Weisschuh 2020	Filing key number: 52, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00388838	122	PubMed: Weisschuh 2020	Filing key number: 55, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD

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Global Variome shared LOVD

BBS4 (Bardet-Biedl syndrome 4)