All individuals with variants in gene MKKS

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.

189 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
00060204	-	-	1 familie, 3 patients	M	yes	Spain	Hispanic	-	-	-	-	BBS	retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination	2	1	María González-del Pozo
00165229	-	-	-	F	yes	Spain	-	-	-	-	-	BBS	-	1	1	Sheila Castro-Sánchez
00276325	-	-	-	F	yes	Turkey	-	00y17m	-	-	-	BBS6	Polydactyly Renal abnormalities Genital abnormalities Dental abnormalities Facial dysmorphism	1	1	Evren Gümüş
00292863	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00292864	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292865	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00309639	FamilyPat501	PubMed: Khan 2016	5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	8	Johan den Dunnen
00309641	FamilyPat503	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309642	FamilyPat505	PubMed: Khan 2016	-	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309643	FamilyPat507	PubMed: Khan 2016	-	F	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309645	FamilyPat509	PubMed: Khan 2016	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00318008	PKMR224	PubMed: Riazuddin 2017	-	-	yes	Pakistan	-	-	-	-	-	ID	Moderate ID, speech delay, strabismus, retinitis pigmentosa, polydactyly, obesity.	1	1	Johan den Dunnen
00332190	JB9	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00333365	Pat7	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334089	618	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	2	2	LOVD
00334090	619	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB2	1	1	LOVD
00358807	AR800-03	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358964	Case72007	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358972	Case70559	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358977	Case25939	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358980	Case71094	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363647	11DG1165	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00375422	RP#015	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00380358	-	PubMed: M'hamdi_2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	retinitis pigmentaria	1	1	LOVD
00380364	-	PubMed: M'hamdi_2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	retinitis pigmentaria	1	1	LOVD
00382325	154	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	2	1	LOVD
00382563	425	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382894	-	PubMed: Katsanis-2001	-	-	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations	1	1	LOVD
00382895	-	PubMed: Katsanis-2001	-	-	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations	1	1	LOVD
00382896	-	PubMed: Katsanis-2001	-	-	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations	1	1	LOVD
00382898	-	PubMed: Katsanis-2001	two BBS2 mutations found in unaffected individuals	-	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) and renal malformations (Ren)	1	1	LOVD
00383058	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	3	1	LOVD
00383081	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	3	1	LOVD
00383113	-	PubMed: Hichri-2005	-	-	-	France	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383114	-	PubMed: Hichri-2005	-	-	-	France	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383115	-	PubMed: Hichri-2005	-	-	-	France	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383116	-	PubMed: Hichri-2005	-	-	-	France	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383133	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	learning disability, polydactyly	1	1	LOVD
00383149	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, hypogonadism, learning disability	2	1	LOVD
00383154	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, hypogonadism, learning disability	2	1	LOVD
00383213	-	PubMed: Muller-2010, Katsanis 2000	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383238	-	PubMed: Muller-2010, Stone 2000	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383239	-	PubMed: Muller-2010, Stone 2000	-	-	-	-	white	-	-	-	-	retinal disease	-	2	1	LOVD
00383240	-	PubMed: Muller-2010	-	-	-	-	white	-	-	-	-	retinal disease	-	1	2	LOVD
00383285	-	PubMed: Duelund Hjortshoj-2010	-	F	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies	1	1	LOVD
00383286	-	PubMed: Duelund Hjortshoj-2010	-	M	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies	1	1	LOVD
00383287	-	PubMed: Duelund Hjortshoj-2010	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383295	-	PubMed: Duelund Hjortshoj-2010	-	M	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies; Hypogenitalism	1	1	LOVD
00383296	-	PubMed: Duelund Hjortshoj-2010	-	M	-	-	-	-	-	-	-	retinal disease	RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation	1	1	LOVD
00383322	-	PubMed: Pereiro-2010	-	F	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity, mental delay, polydactyly	1	1	LOVD
00383323	-	PubMed: Pereiro-2010	-	F	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity, mental delay, polydactyly (left-hand)	1	1	LOVD
00383330	-	PubMed: Badano-2003	-	F	no	-	white / northern European	-	-	-	-	retinal disease	-	1	1	LOVD
00383345	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383346	-	PubMed: Hoskins-2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383360	-	PubMed: Fauser-2003	-	-	no	-	European	-	-	-	-	retinal disease	-	2	1	LOVD
00383361	-	PubMed: Fauser-2003	-	-	no	-	European	-	-	-	-	retinal disease	-	1	1	LOVD
00383362	-	PubMed: Eichers-2009, Beales 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383363	-	PubMed: Eichers-2009, Beales 2003	both affected individuals have inherited two BBS1 mutant alleles (one missesnse and one frameshift) but only one of the two carries a third mutant allele of BBS6 (missense).	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383367	-	PubMed: Eichers-2009, Beales 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383369	-	PubMed: Eichers-2009, Beales 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383370	-	PubMed: Eichers-2009, Katsanis 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383371	-	PubMed: Eichers-2009, Katsanis 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383374	-	PubMed: Eichers-2009, Katsanis 2002	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383466	RP1573	PubMed: Castro-Sanchez 2019	-	F	-	Spain	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383663	12	PubMed: Manara 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384678	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384679	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384680	-	PubMed: Feuillan-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384704	-	PubMed: Billingsley-2010	-	M	-	-	Portuguese	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384705	-	PubMed: Billingsley-2010	-	M	-	-	Newfoundland	-	-	-	-	retinal disease	weight anomalies, digit anomaly, severe cognitive impairment	1	1	LOVD
00384706	-	PubMed: Billingsley-2010	-	F	-	-	French-Canadian	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384707	-	PubMed: Billingsley-2010	-	M	-	-	Arabic	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384713	-	PubMed: Billingsley-2010	-	F	-	-	Irish	-	-	-	-	retinal disease	weight anomalies, digit anomaly	1	1	LOVD
00384723	-	PubMed: Billingsley-2010	-	F	-	-	British	-	-	-	-	retinal disease	weight anomalies, digit anomaly	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	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
00384827	-	PubMed: Abu-Safieh-2012	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00385182	-	PubMed: Chen-2011	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00385240	-	PubMed: Redin-2012	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385247	-	PubMed: Redin-2012	-	-	-	Tunisia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385257	-	PubMed: Schaefer-2011	-	-	-	France	french	-	-	-	-	retinal disease	Polydactyly, kidney features, retinitis pigmentosa, hydrometrocolpos, urogenital sinus malformation	2	1	LOVD
00385285	-	PubMed: M'hamdi-2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation	2	1	LOVD
00385306	-	PubMed: Imhoff-2011	additional mutation	-	-	-	South African Black/European/Asian	-	-	-	-	retinal disease	-	2	1	LOVD
00385346	-	PubMed: Deveault-2011	novel	M	-	-	Mexican/Norwegian/Danish	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, renal structure anomaly, Liver str, Liver fx,Cryptochidism	1	1	LOVD
00385347	-	PubMed: Deveault-2011	-	M	-	-	Ghanian	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hearing abn, Heart anomaly, HBP, AsthmaCryptochidismHyperphagia, Teeth crowding, Sleep apnea, RTIs	1	1	LOVD
00385348	-	PubMed: Deveault-2011	-	M	-	-	Spanish	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, Diabetes, Heart anomaly, Asthma	1	1	LOVD
00385349	-	PubMed: Deveault-2011	-	F	-	-	Spanish	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Abnormal genitaliaHyperphagia, OCD, ADD	1	1	LOVD
00385361	-	PubMed: Deveault-2011	-	F	yes	-	Croatian	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Scoliosis, HBP, DiabetesDepression, Hirsutism	1	1	LOVD
00385370	-	PubMed: Deveault-2011	-	F	yes	-	Arabic	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly,	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	1	1	LOVD
00385583	AR850(A2878)-4	PubMed: Janssen-2011	-	-	-	-	Northern-Europe	-	-	-	-	retinal disease	retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, AST,DD,MC,SD,SYN	1	1	LOVD
00385599	A786-II1	PubMed: Janssen-2011	-	-	-	Macedonia	-	-	-	-	-	retinal disease	postaxial polydactyly, obesity, hypogonadism, renal anomalies	1	1	LOVD
00385600	AR800(A2870)-03	PubMed: Janssen-2011	-	-	-	-	Northern-Europe	-	-	-	-	retinal disease	Retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism	1	1	LOVD
00385619	20NCE	PubMed: de Castro-Miró-2014	-	M	-	-	-	-	-	-	-	retinal disease	-	1	3	LOVD
00385948	-	PubMed: Gonzalez-del Pozo-2013	-	F	-	Spain	spanish	-	-	-	-	retinal disease	Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, normal weight, learning disabilities	2	1	LOVD
00385949	-	PubMed: Gonzalez-del Pozo-2013	-	M	-	Spain	spanish	-	-	-	-	retinal disease	Night blindness, retinitis pigmentosa, postaxial polydactyly both feet, Obese, learning disabilities, kidney cysts, kidney transplant, poor coordination	2	1	LOVD
00385950	-	PubMed: Gonzalez-del Pozo-2013	-	M	-	Spain	spanish	-	-	-	-	retinal disease	Night blindness, retinitis pigmentosa, postaxial polydactyly one foot, Overweight, learning disabilities	2	1	LOVD
00387444	-	PubMed: Castro Sanchez 2015	-	M	-	Spain	Spanish	-	-	-	-	retinal disease	retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, urogenital anomalies, renal abnormalities, Asthma	1	1	LOVD
00387475	-	PubMed: Castro Sanchez 2015	-	F	yes	Spain	Spanish	-	-	-	-	retinal disease	retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital anomalies, renal abnormalities,	1	1	LOVD

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

Global Variome shared LOVD

MKKS (McKusick-Kaufman syndrome)