All individuals with variants in gene TTC8

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.

112 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
00050467	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected sibling(s)	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	muscular hypotonia of the trunk, delayed speech and language development, high palate, short philtrum, prominent fingertip pads	1	2	Johan den Dunnen
00059888	-	-	2-generation family, 3 affecteds	-	yes	Saudi Arabia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059889	-	-	2-generation family, 3 affecteds	-	yes	Saudi Arabia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059890	-	-	2-generation family, 3 affecteds	-	yes	Pakistan	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059891	-	-	2-generation family, 3 affecteds	-	yes	-	Africa, North	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059892	-	-	-	-	yes	Lebanon	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059893	Fam57009	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059894	Fam57006	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059895	Fam57019	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059896	-	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00059897	-	-	5-generation family, 4 affecteds	-	yes	Pakistan	-	-	-	-	-	RP	-	1	1	Ivo F.A.C. Fokkema
00060174	-	-	-	-	no	-	white	-	-	-	-	BBS	-	2	1	Ivo F.A.C. Fokkema
00060175	-	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060176	-	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060177	-	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060178	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Ivo F.A.C. Fokkema
00060179	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060180	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060181	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060182	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060183	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060184	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060185	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060186	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060187	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060188	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060189	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060190	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060191	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060192	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060193	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060194	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060195	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060196	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060197	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060198	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060199	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060200	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00060201	-	-	-	-	-	-	-	-	-	-	-	BBS	-	1	1	Ivo F.A.C. Fokkema
00100099	61179	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	-	1	1	James Hejtmancik
00233264	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1197 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233265	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233266	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233267	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233268	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233269	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233270	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233271	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233272	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233273	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233274	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00240462	-	-	-	M	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00325436	2583	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal systrophy	1	1	Johan den Dunnen
00358818	AR704-0311	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00372684	RP263	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372725	RP308	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372727	RP323	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372744	RP304	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373366	-	PubMed: Van Huet 2015	-	-	-	Netherlands	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375424	RP#018	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376318	-	PubMed: Avela 2019	-	-	-	Finland	Finnish	-	-	-	-	retinal disease	-	2	1	LOVD
00376753	13	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376758	18	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376783	49	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376789	56	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379366	-	PubMed: Harville-2010	-	-	yes	Turkey	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity, hypogonadism	1	1	LOVD
00379367	-	PubMed: Harville-2010	-	-	yes	Pakistan	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity, hypogonadism, mental retardation, developmental delay, brachycephaly, hypotonia	1	1	LOVD
00379368	-	PubMed: Harville-2010	-	-	yes	Pakistan	-	-	-	-	-	retinal disease	Retinitis pigmentosa, polydactyly, obesity, hypogonadism, mental retardation, developmental delay, brachycephaly, situs inversus	1	1	LOVD
00380365	-	PubMed: M'hamdi_2014	-	M	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	arterial hypertension, retinitis pigmentaria	1	1	LOVD
00381635	-	PubMed: Eisenberger-2013	-	M	no	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381640	-	PubMed: Eisenberger-2013	-	M	?	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381958	III:I	PubMed: Ravesh 2018	FamilyA	F	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382292	121	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382607	470	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	2	1	LOVD
00382608	471	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383198	-	PubMed: Bin-2009	-	-	-	-	Jamaican/Trinidadian	-	-	-	-	retinal disease	-	1	1	LOVD
00383242	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	Lebanese	-	-	-	-	retinal disease	-	2	1	LOVD
00383243	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	3	LOVD
00383244	-	PubMed: Muller-2010, PubMed: Stoetzel 2006	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00383662	11	PubMed: Manara 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383762	RD18070021_A	PubMed: Gao 2019	-	?	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384789	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	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
00384839	-	PubMed: Abu-Safieh-2012	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, deafness,	1	1	LOVD
00385179	-	PubMed: Chen-2011	-	-	-	-	Tunisian	-	-	-	-	retinal disease	-	1	1	LOVD
00385184	-	PubMed: Chen-2011	-	-	-	-	Arabic	-	-	-	-	retinal disease	-	1	1	LOVD
00385185	-	PubMed: Chen-2011	-	-	-	-	white	-	-	-	-	retinal disease	-	1	1	LOVD
00385251	-	PubMed: Redin-2012	-	-	-	Tunisia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385259	-	PubMed: Schaefer-2011	-	-	-	France	french	-	-	-	-	retinal disease	Polydactyly, kidney features, obesity, retinitis pigmentosa, hydrometrocolpos with bleeding, vaginal atresia,	1	1	LOVD
00385286	-	PubMed: M'hamdi-2014	-	M	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	obesity, retinitis pigmentosa, polydactyly, hypogenitalism, mental retardation	1	1	LOVD
00385353	-	PubMed: Deveault-2011	-	-	-	-	French	-	-	-	-	retinal disease	-	1	1	LOVD
00385354	-	PubMed: Deveault-2011	-	M	-	-	French	-	-	-	-	retinal disease	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Asthma, DislipidemiaTeeth crowding, Micropenis, Cholelithiasis	2	1	LOVD
00385386	-	PubMed: Deveault-2011	-	M	-	-	French	-	-	-	-	retinal disease	-	1	1	LOVD
00385557	A2506	PubMed: Janssen-2011	-	-	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa, postaxial polydactyly, obesity, AZ,MR,NE	1	1	LOVD
00385559	A2513	PubMed: Janssen-2011	-	-	-	-	Hispanic	-	-	-	-	retinal disease	retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, FL,GASTS,MR	1	1	LOVD
00386172	RPN-284	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388311	C:IV-1	PubMed: Ullah-2017	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly both hands and feet, obesity, hypogonadism, cognitive Impairment, clinodactyly	1	1	LOVD
00388312	C:IV-2	PubMed: Ullah-2017	-	M	yes	Pakistan	-	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly both hands and left foot, obesity, hypogonadism, cognitive Impairment, clinodactyly	1	1	LOVD
00388313	C:IV-6	PubMed: Ullah-2017	-	F	yes	Pakistan	-	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly left foot, obesity, cognitive Impairment	1	1	LOVD

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Global Variome shared LOVD

TTC8 (tetratricopeptide repeat domain 8)