Disease #02997 (CLN7 (lipofuscinosis, ceroid, neuronal, type 7 (CLN7)), OMIM:610951)

Official abbreviation	CLN7
Name	lipofuscinosis, ceroid, neuronal, type 7 (CLN7)
OMIM ID	610951
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	82
Phenotype entries for this disease	81
Associated with 1 gene	MFSD8
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-11-04 11:44:16 +01:00 (CET)

Individuals

Legend

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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'

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82 entries on 1 page. Showing entries 1 - 82.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00080937	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CLN7	Ceroid lipofuscinosis, neuronal, 7 (OMIM:610951)	MFSD8	MFSD8	1	1	Daniel Trujillano
00081056	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CLN7	Ceroid lipofuscinosis, neuronal, 7 (OMIM:610951)	MFSD8	MFSD8	1	1	Daniel Trujillano
00229684	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Granular Osmiophilic Deposits	MFSD8	MFSD8	2	1	Sara Mole
00229686	-	PubMed: Kousi 2012	-	-	-	Argentina	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	1	1	Sara Mole
00229687	-	PubMed: Kousi 2009	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	1	1	Sara Mole
00229688	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	1	1	Sara Mole
00229689	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229690	-	PubMed: Kousi 2012	-	-	-	Cook Islands	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	2	1	Sara Mole
00229691	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	2	1	Sara Mole
00229692	-	PubMed: Kousi 2012	-	-	-	Canada	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229693	-	?	?	-	-	Italy	?	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229695	-	PubMed: Stogmann 2009	sibs	-	-	Egypt	-	-	-	-	-	CLN7	no visual failure reported	MFSD8	MFSD8	1	1	Sara Mole
00229696	-	PubMed: Stogmann 2009	-	-	-	Egypt	-	-	-	-	-	CLN7	no visual failure reported	MFSD8	MFSD8	1	1	Sara Mole
00229697	-	PubMed: Stogmann 2009	-	-	-	Egypt	-	-	-	-	-	CLN7	no visual failure reported	MFSD8	MFSD8	1	1	Sara Mole
00229698	-	PubMed: Kousi 2009	-	-	-	India	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Granular Osmiophilic Deposits	MFSD8	MFSD8	1	1	Sara Mole
00229699	-	PubMed: Kousi 2012	sibs	-	-	Canada	-	-	-	-	-	CLN7	n.a.	MFSD8	MFSD8	1	1	Sara Mole
00229700	-	PubMed: Kousi 2009	-	-	-	Netherlands	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229702	-	PubMed: Kousi 2012	-	-	-	Romania	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	2	1	Sara Mole
00229703	-	F Laranjeira pers comm	-	-	-	-	African-Portuguese	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229704	-	F Laranjeira pers comm	-	-	-	-	African-Portuguese	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229705	-	PubMed: Aiello 2009 PubMed: Kousi 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	1	1	Sara Mole
00229706	-	PubMed: Siintola 2007 PubMed: Topcu 2004	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	1	1	Sara Mole
00229707	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229708	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229709	-	PubMed: Siintola 2007	sibs	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	1	1	Sara Mole
00229710	-	PubMed: Siintola 2007	CLN5: p.Lys368Arg	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229711	-	PubMed: Kousi 2009	-	-	-	Czech Republic	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	2	1	Sara Mole
00229712	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229713	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229714	-	PubMed: Kousi 2012	CLN5: p.Arg2Cys	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	2	1	Sara Mole
00229715	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229716	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229717	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229718	-	PubMed: Kousi 2012	-	-	-	Czech Republic	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229719	-	PubMed: Kousi 2012	-	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	2	1	Sara Mole
00229720	-	PubMed: Kousi 2009	-	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229721	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	1	1	Sara Mole
00229722	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	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	-	MFSD8	MFSD8	1	1	Sara Mole
00229724	-	PubMed: Kousi 2009	(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	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	MFSD8	MFSD8	1	1	Sara Mole
00229726	-	PubMed: Kousi 2009	sibs	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229727	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229728	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229729	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229730	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229731	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229732	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229733	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229734	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229735	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229736	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229737	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229738	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229739	-	PubMed: Kousi 2009	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229740	-	PubMed: Kousi 2009	-	-	-	Czech Republic	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229741	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Granular Osmiophilic Deposits	MFSD8	MFSD8	1	1	Sara Mole
00229742	-	PubMed: Kousi 2012	-	-	-	Spain	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229743	-	PubMed: Kousi 2012	-	-	-	Spain	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229744	-	PubMed: Kousi 2012	-	-	-	Czech Republic	Roma	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229745	-	PubMed: Siintola 2007	CLN5: p.Lys368Arg	-	-	India	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229746	-	PubMed: Siintola 2007	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	1	1	Sara Mole
00229747	-	PubMed: Kousi 2012	CLN5: p.Lys368Arg	-	-	Turkey	-	-	-	-	-	CLN7	-	MFSD8	MFSD8	1	1	Sara Mole
00229748	-	?	?	-	-	-	?	-	-	-	-	CLN7	?	MFSD8	MFSD8	1	1	Sara Mole
00229750	-	PubMed: Siintola 2007	CLN5: p.Arg2Cys; p.Trp75Arg	-	-	Turkey	-	-	-	-	-	CLN7	No vacuoles	MFSD8	MFSD8	1	1	Sara Mole
00229751	-	PubMed: Aiello 2009	-	-	-	Italy;France	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	2	1	Sara Mole
00229752	-	PubMed: Aldahmesh 2009	sibs	-	-	Saudi Arabia	-	-	-	-	-	CLN7	No inclusions	MFSD8	MFSD8	1	1	Sara Mole
00229753	-	PubMed: Aldahmesh 2009	-	-	-	Saudi Arabia	-	-	-	-	-	CLN7	No inclusions	MFSD8	MFSD8	1	1	Sara Mole
00229754	-	PubMed: Aldahmesh 2009	-	-	-	Saudi Arabia	-	-	-	-	-	CLN7	No inclusions	MFSD8	MFSD8	1	1	Sara Mole
00229756	-	PubMed: Siintola 2007	-	-	-	Turkey	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	1	1	Sara Mole
00229757	-	PubMed: Aiello 2009	-	-	-	Italy	-	-	-	-	-	CLN7	Fingerprint/Curvilinear	MFSD8	MFSD8	1	1	Sara Mole
00229758	-	PubMed: Kousi 2009	-	-	-	Albania;Greece	-	-	-	-	-	CLN7	Fingerprint/Curvilinear/Rectilinear	MFSD8	MFSD8	1	1	Sara Mole
00229761	-	PubMed: Kousi 2012	-	-	-	Argentina	-	-	-	-	-	CLN7	Fingerprint	MFSD8	MFSD8	1	1	Sara Mole
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	MFSD8	MFSD8	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	MFSD8	MFSD8	1	1	Corina-Marcela Rus
00307880	?	-	-	F	-	Lebanon	-	-	-	-	-	CLN7	Seizures, Motor delay, Developmental regression, Abnormality of the cerebral white matter	MFSD8	MFSD8	1	1	Corina-Marcela Rus
00433029	-	-	-	F;M	yes	Egypt	-	-	-	-	-	CLN7	-	-	MFSD8	1	2	Alaaeldin Fayez
00455537	Subject #1	Venier 2024, submitted	-	M	no	Argentina	-	-	-	-	-	CLN7	HP:0003678 (present);HP:0000572 (present);HP:0002180 (present);HP:0002353 (present);HP:0002373 (present);HP:0000708 (present);HP:0000752 (present);HP:0001249 (present);HP:0030891 (present);HP:0007207 (present);HP:0011147 (present);HP:0001336 (present) (present);HP:0011813 (present);HP:0002059 (present)	CLN3, CLN5, CLN6, CLN8, DNAJC5, MFSD8, PPT1, TPP1	MFSD8	1	1	Favio Pesaola
00455615	Subject #2	Venier 2024, submitted	-	F	no	Argentina	-	-	-	-	-	CLN7	HP:0000750 (present);HP:0001272 (present);HP:0030891 (present);HP:0002353 (present);HP:0002312 (present);HP:0006887 (present)	-	MFSD8	2	1	Favio Pesaola
00455616	Subject #3	Venier 2024, submitted	-	F	no	Paraguay	-	-	-	-	-	CLN7	HP:0003678 (present);HP:0000572 (present);HP:0002180 (present);HP:0002353 (present);HP:0002373 (present);HP:0000708 (present);HP:0000752 (present);HP:0001249 (present);HP:0030891 (present);HP:0007207 (present);HP:0011147 (present);HP:0001336 (present) (present);HP:0011813 (present);HP:0002059 (present)	-	MFSD8	1	1	Favio Pesaola
00455618	Subject #4	Venier 2024, submitted	-	M	no	Argentina	-	-	-	-	-	CLN7	HP:0030891 (present);HP:0001272 (present);HP:0002353 (present);HP:0008035 (present);HP:0000543 (present);HP:0007965 (present);HP:0002123 (present);HP:0007270 (present);HP:0001336 (present);HP:0001347 (present)	-	MFSD8	2	1	Favio Pesaola
00455619	Subject #5	Venier 2024, submitted	-	F	no	Argentina	-	-	-	-	-	CLN7	HP:0000750 (present);HP:0001272 (present);HP:0030891 (present);HP:0002353 (present);HP:0002312 (present);HP:0006887 (present);HP:0001251 (present)	-	MFSD8	1	1	Favio Pesaola

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Global Variome shared LOVD