All individuals with variants in gene BBS9

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.

148 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
00000076	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00050553	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, generalized seizures, abnormal facial shape, autism, long tapered fingers, narrow mouth, short upturned nose, upslanted palpebral fissure, abnormal muscle tone	1	1	Johan den Dunnen
00059924	-	-	Previous tests done: BBS-A	-	-	-	-	-	-	-	-	BBS	-	1	1	Julia Lopez
00063833	-	-	-	M	yes	Pakistan	-	-	-	-	-	BBS	CRD/RP, polydactyly, obesity, intellectual disability, hypogonadism. Left kidney: focal caliectasis in upper and interpolar region. Elevated liver enzymes, hypodontia, speech disability, gynaecomastia.	1	1	Muhammad Ajmal
00095115	-	-	-	-	?	-	-	-	-	Yes	-	BBS9	-	2	1	Karen Stals
00152527	-	-	-	-	-	-	-	-	-	-	-	CRS	sagittal craniosynostosis (HP:0004442)	1	1	Anshuman Sewda
00152528	-	-	-	-	-	-	-	-	-	-	-	CRS	unicoronal synostosis, right (HP:0011315)	1	1	Anshuman Sewda
00155390	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	BBS	-	1	2	Dror Sharon
00240424	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00276327	-	-	-	F	yes	Turkey	-	04y	-	-	-	BBS9	Obesity Rod cone dystrophy Polydactyly Renal abnormalities Genital abnormalities Behavioral problems Facial dysmorphism Cardiac abnormalities	1	1	Evren Gümüş
00294433	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294434	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00294435	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	29	Mohammed Faruq
00294436	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00294437	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00294438	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	15	Mohammed Faruq
00308675	-	PubMed: Kim 2019	-	-	-	Korea	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308971	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00325445	2831	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal systrophy	1	1	Johan den Dunnen
00332542	Pat29	PubMed: Comander 2017	proband	F	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00333361	Pat1	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00334088	617	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00358720	-	PubMed: Carrigan 2016	-	-	-	Ireland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358808	AR400-03	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358955	Case29870	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358963	Case71762	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362926	LCA70	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363437	Pat13	PubMed: Ece Solmaz 2015	patient	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363744	13DG2231	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00378069	IR_SH_0052	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	BBS	HP:0000662 HP:0000613 HP:0001129 HP:0000639 HP:0001483, HP:0000551, HP:0001288, HP:0000007, HP:0032122, HP:0001162, HP:0001513	2	1	Jinu Han
00380358	-	PubMed: M'hamdi_2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	retinitis pigmentaria	1	1	LOVD
00381170	-	PubMed: Neveling-2013	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00382495	357	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382496	358	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382603	466	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383074	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383083	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383118	-	PubMed: Nishimura-2005	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383119	-	PubMed: Nishimura-2005	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383120	-	PubMed: Nishimura-2005	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383121	-	PubMed: Nishimura-2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	2	LOVD
00383122	-	PubMed: Nishimura-2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	2	LOVD
00383123	-	PubMed: Nishimura-2005	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383124	-	PubMed: Nishimura-2005	-	M	-	-	-	-	-	-	-	retinal disease	-	1	2	LOVD
00383142	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, hypogonadism, learning disability	1	1	LOVD
00383148	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00383206	-	PubMed: Leitch-2008	-	M	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa, severe obesity, polydactyly, mental retardation, renal disease, developmental delayDA,	1	1	LOVD
00383245	-	PubMed: Muller-2010	-	-	-	-	white	-	-	-	-	retinal disease	-	1	2	LOVD
00383246	-	PubMed: Muller-2010	-	-	-	-	white	-	-	-	-	retinal disease	-	2	2	LOVD
00383247	-	PubMed: Muller-2010	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383248	-	PubMed: Muller-2010	-	-	-	-	Turkish	-	-	-	-	retinal disease	-	1	1	LOVD
00383294	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383298	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383521	?	PubMed: Kim 2019	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384602	FA4: V.3	PubMed: Jaffal 2019	-	F	yes	Lebanon	-	-	-	-	-	retinal disease	Visual acuity: 20/30–20/2	1	1	LOVD
00384684	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	2	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	1	1	LOVD
00384729	-	PubMed: Billingsley-2010	-	M	-	-	Hispanic	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384730	-	PubMed: Billingsley-2010	-	M	-	-	Hispanic	-	-	-	-	retinal disease	weight anomalies, digit anomaly	2	1	LOVD
00384731	-	PubMed: Billingsley-2010	-	F	-	-	Hispanic	-	-	-	-	retinal disease	weight anomalies, digit anomaly	2	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
00384815	-	PubMed: Abu-Safieh-2012	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	1	1	LOVD
00384816	-	PubMed: Abu-Safieh-2012	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, renal disease, polydactyly,	1	1	LOVD
00384817	-	PubMed: Abu-Safieh-2012	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	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
00384823	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect	1	1	LOVD
00384824	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect	1	1	LOVD
00384832	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, hydrometrocolpos	2	1	LOVD
00384833	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, hydrometrocolpos	2	1	LOVD
00384835	-	PubMed: Abu-Safieh-2012, Stoetzel 2006	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, renal disease, polydactyly, hydrometrocolpos	1	1	LOVD
00384836	-	PubMed: Abu-Safieh-2012, Stoetzel 2006	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, renal disease, polydactyly, hypogenitalism	1	1	LOVD
00384838	-	PubMed: Abu-Safieh-2012	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	1	1	LOVD
00384839	-	PubMed: Abu-Safieh-2012	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, deafness,	1	1	LOVD
00385180	-	PubMed: Chen-2011	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00385230	-	PubMed: Redin-2012	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385286	-	PubMed: M'hamdi-2014	-	M	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	obesity, retinitis pigmentosa, polydactyly, hypogenitalism, mental retardation	1	1	LOVD
00385307	-	PubMed: Imhoff-2011	additional mutation	-	-	-	South African Black/European/Asian	-	-	-	-	retinal disease	-	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
00385355	-	PubMed: Deveault-2011	-	-	-	-	French	-	-	-	-	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
00385384	-	PubMed: Deveault-2011	-	M	-	-	French	-	-	-	-	retinal disease	-	1	1	LOVD
00385580	AR847(A2877)-03	PubMed: Janssen-2011	-	-	-	-	Northern-Europe	-	-	-	-	retinal disease	postaxial polydactyly, obesity, renal anomalies, AST,DD,MY,SD	2	1	LOVD
00385581	AR847(A2877)-03	PubMed: Janssen-2011	-	-	-	-	Northern-Europe	-	-	-	-	retinal disease	postaxial polydactyly, obesity, renal anomalies, AST,DD,MY,SD	2	1	LOVD
00385590	PB233(A2013)-II1	PubMed: Janssen-2011	-	-	-	Turkey	-	-	-	-	-	retinal disease	retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, MR	1	1	LOVD
00385591	A2499	PubMed: Janssen-2011	-	-	-	-	-	-	-	-	-	retinal disease	Retinitis pigmentosa, postaxial polydactyly, renal anomalies	1	1	LOVD
00385602	A3260-II1	PubMed: Janssen-2011	-	-	-	United States	-	-	-	-	-	retinal disease	postaxial polydactyly, renal anomalies	1	1	LOVD
00385643	R1-04	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa,	1	1	LOVD
00385644	R1-05	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa,	1	1	LOVD
00385645	AR082-03	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa,	1	1	LOVD
00385937	-	PubMed: Fattahi-2014	-	-	yes	-	Mazani	-	-	-	-	retinal disease	obesity, rp, myopia, polydactyly hand, polydactyly feet, hypogonadisma, Nystagmus, congenital-cardiac-anomaly, Hirschprung-syndrome, brachydactyly	1	1	LOVD
00385947	-	PubMed: Fattahi-2014	-	-	yes	-	Turk	-	-	-	-	retinal disease	obesity, cataract, night blindness, strabismus, Moderate learning disability, polydactyly hand, polydactyly feet, speech disorder, Behavioral-problem, developmental-delay, dental-anomaly, Hirschprung-syndrome	1	1	LOVD
00386869	003-390	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387131	157	PubMed: Jauregui 2020	-	F	-	(United States)	Hispanic	-	-	-	-	retinal disease	-	1	1	LOVD
00387904	M9100015	PubMed: Hu 2019	family, 3 affected individuals, first cousin parents once removed	-	yes	Iran	Persia	-	-	-	-	ID	syndromic intellectual disability, no microcephaly	1	3	Johan den Dunnen
00388141	-	PubMed: Qi_2017	-	F	-	China	Chinese	-	-	-	-	retinal disease	polydipsia, polyuria, kidney malformations (renal cysts), renal dysfunction, retinal degeneration, cognitive impairment, polydactyly, enamel hypoplasia, short stature and myocardial damage.	1	1	LOVD
00388508	15009450	PubMed: Ellingsford 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388792	76	PubMed: Weisschuh 2020	Filing key number: 40, 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

BBS9 (Bardet-Biedl syndrome 9)