All individuals with variants in gene MFSD8

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.

181 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
00080937	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CLN7	Ceroid lipofuscinosis, neuronal, 7 (OMIM:610951)	1	1	Daniel Trujillano
00081056	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CLN7	Ceroid lipofuscinosis, neuronal, 7 (OMIM:610951)	1	1	Daniel Trujillano
00132273	Pat1	Cismondi, SAG2017, Cordoba P22	-	-	-	Argentina	-	-	-	-	-	CLN	EM curvilinear profiles (CL)	1	1	Johan den Dunnen
00132274	Pat2	Cismondi, SAG2017, Cordoba P22	-	-	-	Argentina	-	15y	-	-	-	CLN	EM fingerprint-like profiles	1	1	Johan den Dunnen
00132275	Pat3	Cismondi, SAG2017, Cordoba P22	-	-	-	Argentina	-	-	-	-	-	CLN	EM fingerprint-like profiles	1	1	Johan den Dunnen
00229684	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Granular Osmiophilic Deposits	2	1	Sara Mole
00229686	-	PubMed: Kousi 2012	-	-	-	Argentina	-	-	-	-	-	CLN7	Fingerprint	1	1	Sara Mole
00229687	-	PubMed: Kousi 2009	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	1	1	Sara Mole
00229688	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	1	1	Sara Mole
00229689	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229690	-	PubMed: Kousi 2012	-	-	-	Cook Islands	-	-	-	-	-	CLN7	-	2	1	Sara Mole
00229691	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	2	1	Sara Mole
00229692	-	PubMed: Kousi 2012	-	-	-	Canada	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229693	-	?	?	-	-	Italy	?	-	-	-	-	CLN7	-	1	1	Sara Mole
00229694	-	-	?	-	-	-	?	-	-	-	-	?	?	1	1	Sara Mole
00229695	-	PubMed: Stogmann 2009	sibs	-	-	Egypt	-	-	-	-	-	CLN7	no visual failure reported	1	1	Sara Mole
00229696	-	PubMed: Stogmann 2009	-	-	-	Egypt	-	-	-	-	-	CLN7	no visual failure reported	1	1	Sara Mole
00229697	-	PubMed: Stogmann 2009	-	-	-	Egypt	-	-	-	-	-	CLN7	no visual failure reported	1	1	Sara Mole
00229698	-	PubMed: Kousi 2009	-	-	-	India	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Granular Osmiophilic Deposits	1	1	Sara Mole
00229699	-	PubMed: Kousi 2012	sibs	-	-	Canada	-	-	-	-	-	CLN7	n.a.	1	1	Sara Mole
00229700	-	PubMed: Kousi 2009	-	-	-	Netherlands	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229701	-	PubMed: Kousi 2012	CLN5: p.Trp75Arg	-	-	Turkey	-	-	-	-	-	?	n.a.	1	1	Sara Mole
00229702	-	PubMed: Kousi 2012	-	-	-	Romania	-	-	-	-	-	CLN7	Fingerprint	2	1	Sara Mole
00229703	-	F Laranjeira pers comm	-	-	-	-	African-Portuguese	-	-	-	-	CLN7	-	1	1	Sara Mole
00229704	-	F Laranjeira pers comm	-	-	-	-	African-Portuguese	-	-	-	-	CLN7	-	1	1	Sara Mole
00229705	-	PubMed: Aiello 2009 PubMed: Kousi 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	1	1	Sara Mole
00229706	-	PubMed: Siintola 2007 PubMed: Topcu 2004	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	1	1	Sara Mole
00229707	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229708	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229709	-	PubMed: Siintola 2007	sibs	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	1	1	Sara Mole
00229710	-	PubMed: Siintola 2007	CLN5: p.Lys368Arg	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229711	-	PubMed: Kousi 2009	-	-	-	Czech Republic	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	2	1	Sara Mole
00229712	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229713	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229714	-	PubMed: Kousi 2012	CLN5: p.Arg2Cys	-	-	Turkey	-	-	-	-	-	CLN7	-	2	1	Sara Mole
00229715	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229716	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229717	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229718	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229719	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	2	1	Sara Mole
00229720	-	PubMed: Kousi 2009	-	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229721	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	1	1	Sara Mole
00229722	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	2	1	Sara Mole
00229723	-	PubMed: Kousi 2009	(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)/ CLN5: p.Arg2Cys / (sibs)	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229724	-	PubMed: Kousi 2009	(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229725	-	PubMed: Kousi 2009	(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229726	-	PubMed: Kousi 2009	sibs	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229727	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229728	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229729	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229730	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229731	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229732	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229733	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229734	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229735	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229736	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229737	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229738	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229739	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	-	1	1	Sara Mole
00229740	-	PubMed: Kousi 2009	-	-	-	Czech Republic	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229741	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Granular Osmiophilic Deposits	1	1	Sara Mole
00229742	-	PubMed: Kousi 2012	-	-	-	Spain	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229743	-	PubMed: Kousi 2012	-	-	-	Spain	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229744	-	PubMed: Kousi 2012	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	-	1	1	Sara Mole
00229745	-	PubMed: Siintola 2007	CLN5: p.Lys368Arg	-	-	India	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229746	-	PubMed: Siintola 2007	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	1	1	Sara Mole
00229747	-	PubMed: Kousi 2012	CLN5: p.Lys368Arg	-	-	Turkey	-	-	-	-	-	CLN7	-	1	1	Sara Mole
00229748	-	?	?	-	-	-	?	-	-	-	-	CLN7	?	1	1	Sara Mole
00229749	-	-	?	-	-	-	?	-	-	-	-	?	?	1	1	Sara Mole
00229750	-	PubMed: Siintola 2007	CLN5: p.Arg2Cys; p.Trp75Arg	-	-	Turkey	-	-	-	-	-	CLN7	No vacuoles	1	1	Sara Mole
00229751	-	PubMed: Aiello 2009	-	-	-	Italy;France	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	2	1	Sara Mole
00229752	-	PubMed: Aldahmesh 2009	sibs	-	-	Saudi Arabia	-	-	-	-	-	CLN7	No inclusions	1	1	Sara Mole
00229753	-	PubMed: Aldahmesh 2009	-	-	-	Saudi Arabia	-	-	-	-	-	CLN7	No inclusions	1	1	Sara Mole
00229754	-	PubMed: Aldahmesh 2009	-	-	-	Saudi Arabia	-	-	-	-	-	CLN7	No inclusions	1	1	Sara Mole
00229755	-	PubMed: Kousi 2012	Which are disease mutations?	-	-	Mexico	-	-	-	-	-	?	No inclusions	1	1	Sara Mole
00229756	-	PubMed: Siintola 2007	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	1	1	Sara Mole
00229757	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	1	1	Sara Mole
00229758	-	PubMed: Kousi 2009	-	-	-	Albania;Greece	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	1	1	Sara Mole
00229759	-	PubMed: Kousi 2012	CLN5: p.Leu198Pro	-	-	Turkey	-	-	-	-	-	?	n.a.	1	1	Sara Mole
00229760	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	?	n.a.	1	1	Sara Mole
00229761	-	PubMed: Kousi 2012	-	-	-	Argentina	-	-	-	-	-	CLN7	Fingerprint	1	1	Sara Mole
00293545	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	136	Mohammed Faruq
00293546	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304982	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00307878	?	-	-	F	yes	United Arab Emirates	-	-	-	-	-	CLN7	Hearing impairment, Optic atrophy, Dementia, Intellectual disability, Failure to thrive, Abnormal facial shape, Developmental regression, Scoliosis, Multiple joint contractures, Respiratory failure, Myoclonic spasms, Gastrostomy tube feeding in infancy, Brain atrophy, Neurodevelopmental delay, Abnormality of movement	1	1	Corina-Marcela Rus
00307879	?	-	-	M	?	Saudi Arabia	-	-	-	-	-	CLN7	Hypertelorism, Delayed speech and language development, Global developmental delay, Cerebellar atrophy, Cerebral atrophy, Unsteady gait, Abnormality of the cerebral white matter, Lower limb muscle weakness, Abnormal thalamic MRI signal intensity	1	1	Corina-Marcela Rus
00307880	?	-	-	F	-	Lebanon	-	-	-	-	-	CLN7	Seizures, Motor delay, Developmental regression, Abnormality of the cerebral white matter	1	1	Corina-Marcela Rus
00307955	16DG0485	PubMed: Anazi 2017	familial	M	-	-	-	-	-	-	-	ID	see paper; ..., Developmental regression, Seizures, Hypertonia, Hyporeflexia, Abnormal facial shape	1	1	Johan den Dunnen
00316199	patient	PubMed: Kim 2019	-	F	-	United States	-	-	-	-	splice-modulating antisense oligonucleotide treatment	?	see paper; ..., 6y-insidious onset of blindness, ataxia, seizures, developmental regression; 3y-right foot began turn inward; 4y-pulling books close to face at bedtime; 5y-modest language and social regression, increased clumsiness and stumbling; 6y-progression of symptoms accelerated	2	1	Johan den Dunnen
00328114	G005235	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328130	G005501	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328234	G008157	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328296	W000168	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00333927	350	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1b	2	1	LOVD
00335194	134	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	12y-diagnosis visual impairment	2	1	LOVD
00361625	08DG-00245	PubMed: Anazi 2017	familial	F	yes	Saudi Arabia	-	-	-	-	-	ID	not syndromic; Neurodegeneration	1	1	Johan den Dunnen
00374395	S-1912	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Seizures, shivering, walking difficulty, loss of vision and progressive neuroregression	1	1	Johan den Dunnen
00374396	S-4504	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Progressive myoclonic epilepsy, unsteadiness while walking, regression of milestones and speech difficulty	1	1	Johan den Dunnen
00374397	S-2284	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Developmental delay, myoclonic jerks, frequent falls and ataxia. MRI showed cerebellar atrophy	1	1	Johan den Dunnen

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Global Variome shared LOVD

MFSD8 (major facilitator superfamily domain contain...)