Disease #05258 (CLN (lipofuscinosis, ceroid, neuronal (CLN)))

Official abbreviation	CLN
Name	lipofuscinosis, ceroid, neuronal (CLN)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1208
Phenotype entries for this disease	1188
Associated with 9 genes	CLCN6, CLN3, CLN5, CLN6, CLN8, DNAJC5, MFSD8, PPT1, TPP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-04-03 15:00:30 +02:00 (CEST)
Date last edited	2017-04-04 08:43:07 +02:00 (CEST)

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.

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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
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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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1208 entries on 13 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

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
00102745	HSB4165	PubMed: Sleat 2009	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	?	-	-	53y	-	-	-	CLN	-	SGSH	SGSH	2	1	Sara Mole
00102761	?	PubMed: Wisniewski 1998	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102762	?	PubMed: Wisniewski 1999	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102763	?	PubMed: Wisniewski 2000	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102764	?	PubMed: Wisniewski 2001	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102765	?	PubMed: Wisniewski 2001	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102766	?	PubMed: Wisniewski 2002	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	3	1	Sara Mole
00102767	?	PubMed: Wisniewski 2003	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102768	?	PubMed: Wisniewski 2004	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102769	?	PubMed: Wisniewski 2005	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102770	?	PubMed: Wisniewski 2006	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102771	?	PubMed: Wisniewski 2007	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102772	?	PubMed: Wisniewski 2008	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102773	?	PubMed: Sleat 1999	-	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102774	?	PubMed: Sleat 1999	-	-	-	-	Spanish/French/English/Irish/American Indian	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102775	?	PubMed: Sleat 1999	-	-	-	-	Irish/American Indian/ German	-	-	-	-	CLN	histology curvilinear; granular osmiophilic deposits	TPP1	TPP1	2	1	Sara Mole
00102776	10330339-Fam4 / CABM006	PubMed: Sleat 1999	-	-	-	Romania	-	-	-	-	-	CLN	histology fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102777	10330339-Fam5 / IGF087/79	PubMed: Sleat 1999	-	-	-	Romania	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102778	?	PubMed: Sleat 1999	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102779	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102780	?	PubMed: Sleat 1999	-	-	-	Mexico	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102781	?	PubMed: Sleat 1999	-	-	-	-	England / Scottland	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102782	?	PubMed: Sleat 1999	-	-	-	-	England / Dutch	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102783	?	PubMed: Sleat 1999	-	-	-	-	German / English	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102784	?	PubMed: Sleat 1999	-	-	-	-	German / English	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102785	?	PubMed: Sleat 1999	-	-	-	-	England / Ireland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102786	?	PubMed: Sleat 1999	-	-	-	-	Swedish-English-Irish/Scottish-Irish-Norwegian	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102787	?	PubMed: Sleat 1999	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102788	?	PubMed: Sleat 1999	-	-	-	-	Scottland-Ireland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102789	?	PubMed: Sleat 1999	-	-	-	-	English-Irish / English-Swedish	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102790	?	PubMed: Sleat 1999	-	-	-	-	English-Irish / German-Indian	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102791	?	PubMed: Sleat 1999	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102792	?	PubMed: Sleat 1999	-	-	-	Canada	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102793	?	PubMed: Sleat 1999	-	-	-	-	England / Germany	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102794	?	PubMed: Sleat 1999	-	-	-	-	Germany / Irland-Scottland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102795	?	PubMed: Sleat 1999	-	-	-	-	German-Czech/canadian-North American Indian	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102796	?	PubMed: Sleat 1999	-	-	-	Denmark	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102797	?	PubMed: Sleat 1999	-	-	-	-	Northern European	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102798	?	PubMed: Sleat 1999	-	-	-	-	England / Scottland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102799	?	PubMed: Sleat 1999	-	-	-	-	England-Ireland-Scottland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102800	?	PubMed: Sleat 1999	-	-	-	-	England-Ireland-American Indian	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102801	?	PubMed: Sleat 1999	-	-	-	-	French-Irish-German	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102802	?	PubMed: Sleat 1999	-	-	-	-	Irish-Scottish-English	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102803	?	PubMed: Sleat 1999	-	-	-	-	England / Scottland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102804	?	PubMed: Sleat 1999	-	-	-	-	France / Italy	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102805	?	PubMed: Sleat 1999	-	-	-	-	Finnish-Swedish-Norwegian/English-Scottish	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102806	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102807	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102808	?	PubMed: Sleat 1999	-	-	-	Denmark	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102809	?	PubMed: Sleat 1999	-	-	-	-	French-German-Irish-Scottish-English	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102810	?	PubMed: Sleat 1999	-	-	-	-	Czech-Ukranian-Welsh	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	3	1	Sara Mole
00102811	?	PubMed: Sleat 1999	-	-	-	-	Polish/Swedish-French-Bohemian	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102812	?	PubMed: Sleat 1999	-	-	-	-	Poland-Germany/Norway	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102813	?	PubMed: Sleat 1999	-	-	-	Poland	-	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102814	?	PubMed: Sleat 1999	-	-	-	-	Norway-Germany-Poland	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102815	?	PubMed: Sleat 1999	-	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102816	?	PubMed: Sleat 1999	-	-	-	-	English-German/Hungarian-Polish-Russian	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102817	?	PubMed: Sleat 1999	-	-	-	-	Poland-Germany	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102818	?	PubMed: Sleat 1999	-	-	-	Mexico	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102819	?	PubMed: Sleat 1999	-	-	-	-	England / Ireland	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102820	?	PubMed: Sleat 1999	-	-	-	-	Germany-Ireland-Poland-England	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102821	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102822	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	1	1	Sara Mole
00102823	?	PubMed: Sleat 1999	-	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102824	?	PubMed: Sleat 1999	-	-	-	United Kingdom (Great Britain)	England	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102825	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102826	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102827	?	PubMed: Sleat 1999	-	-	-	-	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102828	?	PubMed: Sleat 1999	-	-	-	Spain	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102829	?	PubMed: Sleat 1999	-	-	-	-	Romania/Canada	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102830	10356316-Pat1	PubMed: Hartikainen 1999	2-generation family, 1 affected, unaffected heterozygous carrier parents/sisters	F	no	United States	Scottland - Ireland- England	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102831	10356316-Pat2	PubMed: Hartikainen 1999	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Lebanon	-	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102832	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102833	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102834	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102835	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102836	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	-	TPP1	TPP1	2	1	Sara Mole
00102837	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102838	?	PubMed: Zhong 2000	-	-	-	United States	-	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed; granular osmiophilic deposits	TPP1	TPP1	2	1	Sara Mole
00102839	?	PubMed: Simonati 2000	-	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102840	?	PubMed: Berry-Kravis 2000	-	-	-	-	European / Native American	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102841	?	PubMed: Berry-Kravis 2000	-	-	-	Turkey	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102842	?	PubMed: Tessa 2000	-	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102843	?	PubMed: Tessa 2000	sibs	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102844	?	PubMed: Tessa 2000	-	-	-	Italy	-	-	-	-	-	CLN	histology curvilinear; fingerprint, consensed	TPP1	TPP1	2	1	Sara Mole
00102845	?	PubMed: Lam 2001	-	-	-	China	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	2	1	Sara Mole
00102846	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102847	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102848	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102849	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	4	1	Sara Mole
00102850	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102851	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	4	1	Sara Mole
00102852	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	4	1	Sara Mole
00102853	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102854	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102855	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102856	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102857	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102858	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole
00102859	?	PubMed: Steinfeld 2002	-	-	-	Germany	-	-	-	-	-	CLN	histology curvilinear	TPP1	TPP1	3	1	Sara Mole

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Global Variome shared LOVD

SMN2 (survival of motor neuron 2, centromeric)